Author: "Greene, Mark H" / Publisher: nature publishing group - Searchworks@Jio Institute Digital Library Search Results

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1. Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155

Author: Chang, Suhwan, Wang, Rui-Hong, Akagi, Keiko, Kim, Kyung-Ae, Martin, Betty K., Cavallone, Luca, Haines, Diana C., Basik, Mark, Mai, Phuong, Poggi, Elizabeth, Isaacs, Claudine, Looi, Lai M., Mun, Kein S., Greene, Mark H., Byers, Stephen W., Teo, Soo H., Deng, Chu-Xia, and Sharan, Shyam K.
Subjects: Tumor suppressor genes -- Physiological aspects -- Research, MicroRNA -- Physiological aspects -- Research, BRCA mutations -- Physiological aspects -- Research, Biological sciences, Health
Abstract: BRCA1, a well-known tumor suppressor with multiple interacting partners, is predicted to have diverse biological functions. However, so far its only well-established role is in the repair of damaged DNA and cell cycle regulation. In this regard, the etiopathological study of low-penetrant variants of BRCA1 provides an opportunity to uncover its other physiologically important functions. Using this rationale, we studied the R1699Q variant of BRCA1, a potentially moderate-risk variant, and found that it does not impair DNA damage repair but abrogates the repression of microRNA-155 (miR-155), a bona fide oncomir. Mechanistically, we found that BRCA1 epigenetically represses miR-155 expression via its association with HDAC2, which deacetylates histones H2A and H3 on the miR-155 promoter. We show that overexpression of miR-155 accelerates but the knockdown of miR-155 attenuates the growth of tumor cell lines in vivo. Our findings demonstrate a new mode of tumor suppression by BRCA1 and suggest that miR-155 is a potential therapeutic target for BRCA1-deficient tumors., The protein encoded by human breast cancer susceptibility gene BRCA1 is involved in DNA damage repair and cell cycle progression (1-3). BRCA1 has two distinct functional domains: the N-terminal RING [...]
Published: 2011
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2. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Author: Zhan, Haoyu, Ahearn, Thomas U., Lecarpentier, Julie, Barnes, Daniel, Beesley, Jonathan, Qi, Guanghao, Hang, Xia, O'Mara, Tracy A., Zhao, Ni, Bolla, Manjeet K., Dunning, Alison M., Dennis, Joe, Wang, Qin, Abu Ful, Zumuruda, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Auer, Paul L., Azzollini, Jacopo, Barrowdale, Daniel, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Ana, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bonanni, Bernardo, Bondavalli, Davide, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Broeks, Annegien, Brucker, Sara Y., Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Byers, Helen, Caldes, Trinidad, Caligo, Maria A., Calvello, Mariarosaria, Campa, Daniele, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Christiaens, Melissa, Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Cornelissen, Sten, Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Diez, Orland, Domchek, Susan M., Doerk, Thilo, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Foretova, Lenka, Fostira, Florentia, Friedman, Eitan, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M., Garber, Judy, Garcia-Saenz, Jose A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hake, Christopher R., Hall, Per, Hamann, Ute, Harkness, Elaine F., Heemskerk-Gerritsen, Bernadette A. M., Hillemanns, Peter, Hogervorst, Frans B. L., Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Huebner, Hanna, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Khan, Sofia, Khusnutdinova, Elza, Kitahara, Cari M., Ko, Yon-Dschun, Konstantopoulou, Irene, Koppert, Linetta B., Koutros, Stella, Kristensen, Vessela N., Laenkholm, Anne-Vibeke, Lambrechts, Diether, Larsson, Susanna C., Laurent-Puig, Pierre, Lazaro, Conxi, Lazarova, Emilija, Lejbkowicz, Flavio, Leslie, Goska, Lesueur, Fabienne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loud, Jennifer T., Lubinski, Jan, Lukomska, Alicja, Maclnnis, Robert J., Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matricardi, Laura, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Mingazheva, Elvira, Montagna, Marco, Mulligan, Anna Marie, Mulot, Claire, Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Newman, William G., Nielsens, Finn C., Nikitina-Zake, Liene, Nodora, Jesse, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan, Orr, Nick, Papi, Laura, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T., Peissel, Bernard, Peixoto, Ana, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Piedmonte, Marion, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Prokofyeva, Darya, Rack, Brigitte, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad U., Rennert, Gad, Rennert, Hedy S., Risch, Harvey A., Romero, Atocha, Rookus, Matti A., Ruebner, Matthias, Ruediger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P., Sawyer, Elinor J., Scheuner, Maren T., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schoettker, Ben, Schuermann, Peter, Senter, Leigha, Sharma, Priyanka, Sherman, Mark E., Shu, Xiao-Ou, Singer, Christian F., Smichkoska, Snezhana, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony J., Szabo, Csilla, I, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Terry, MaryBeth, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A. E. M., Tomlinson, Ian, Torres, Diana, Troester, Melissa A., Truong, Therese, Tung, Nadine, Untch, Michael, Vachon, Celine M., van den Ouweland, Ans M. W., van der Kolk, Lizet E., van Veen, Elke M., vanRensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zheng, Wei, Zorn, Kristin K., Milne, Roger L., Kraft, Peter, Simard, Jacques, Pharoah, Paul D. P., Michailidou, Kyriaki, Antoniou, Antonis C., Schmidt, Marjanka K., Chenevix-Trench, Georgia, Easton, Douglas F., Chatterjee, Nilanjan, Garcia-Closas, Montserrat, Zhan, Haoyu, Ahearn, Thomas U., Lecarpentier, Julie, Barnes, Daniel, Beesley, Jonathan, Qi, Guanghao, Hang, Xia, O'Mara, Tracy A., Zhao, Ni, Bolla, Manjeet K., Dunning, Alison M., Dennis, Joe, Wang, Qin, Abu Ful, Zumuruda, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Auer, Paul L., Azzollini, Jacopo, Barrowdale, Daniel, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Ana, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bonanni, Bernardo, Bondavalli, Davide, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Broeks, Annegien, Brucker, Sara Y., Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Byers, Helen, Caldes, Trinidad, Caligo, Maria A., Calvello, Mariarosaria, Campa, Daniele, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Christiaens, Melissa, Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Cornelissen, Sten, Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Diez, Orland, Domchek, Susan M., Doerk, Thilo, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Foretova, Lenka, Fostira, Florentia, Friedman, Eitan, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M., Garber, Judy, Garcia-Saenz, Jose A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hake, Christopher R., Hall, Per, Hamann, Ute, Harkness, Elaine F., Heemskerk-Gerritsen, Bernadette A. M., Hillemanns, Peter, Hogervorst, Frans B. L., Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Huebner, Hanna, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Khan, Sofia, Khusnutdinova, Elza, Kitahara, Cari M., Ko, Yon-Dschun, Konstantopoulou, Irene, Koppert, Linetta B., Koutros, Stella, Kristensen, Vessela N., Laenkholm, Anne-Vibeke, Lambrechts, Diether, Larsson, Susanna C., Laurent-Puig, Pierre, Lazaro, Conxi, Lazarova, Emilija, Lejbkowicz, Flavio, Leslie, Goska, Lesueur, Fabienne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loud, Jennifer T., Lubinski, Jan, Lukomska, Alicja, Maclnnis, Robert J., Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matricardi, Laura, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Mingazheva, Elvira, Montagna, Marco, Mulligan, Anna Marie, Mulot, Claire, Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Newman, William G., Nielsens, Finn C., Nikitina-Zake, Liene, Nodora, Jesse, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan, Orr, Nick, Papi, Laura, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T., Peissel, Bernard, Peixoto, Ana, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Piedmonte, Marion, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Prokofyeva, Darya, Rack, Brigitte, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad U., Rennert, Gad, Rennert, Hedy S., Risch, Harvey A., Romero, Atocha, Rookus, Matti A., Ruebner, Matthias, Ruediger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P., Sawyer, Elinor J., Scheuner, Maren T., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schoettker, Ben, Schuermann, Peter, Senter, Leigha, Sharma, Priyanka, Sherman, Mark E., Shu, Xiao-Ou, Singer, Christian F., Smichkoska, Snezhana, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony J., Szabo, Csilla, I, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Terry, MaryBeth, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A. E. M., Tomlinson, Ian, Torres, Diana, Troester, Melissa A., Truong, Therese, Tung, Nadine, Untch, Michael, Vachon, Celine M., van den Ouweland, Ans M. W., van der Kolk, Lizet E., van Veen, Elke M., vanRensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zheng, Wei, Zorn, Kristin K., Milne, Roger L., Kraft, Peter, Simard, Jacques, Pharoah, Paul D. P., Michailidou, Kyriaki, Antoniou, Antonis C., Schmidt, Marjanka K., Chenevix-Trench, Georgia, Easton, Douglas F., Chatterjee, Nilanjan, and Garcia-Closas, Montserrat
Abstract: Genome-wide analysis identifies 32 loci associated with breast cancer susceptibility, accounting for estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype(1-3). To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P < 5.0 x 10(-8)), 15 of which showed evidence for associations with at least one tumor feature (false discovery rate < 0.05). Five loci showed associations (P < 0.05) in opposite directions between luminal and non-luminal subtypes. In silico analyses showed that these five loci contained cell-specific enhancers that differed between normal luminal and basal mammary cells. The genetic correlations between five intrinsic-like subtypes ranged from 0.35 to 0.80. The proportion of genome-wide chip heritability explained by all known susceptibility loci was 54.2% for luminal A-like disease and 37.6% for triple-negative disease. The odds ratios of polygenic risk scores, which included 330 variants, for the highest 1% of quantiles compared with middle quantiles were 5.63 and 3.02 for luminal A-like and triple-negative disease, respectively. These findings provide an improved understanding of genetic predisposition to breast cancer subtypes and will inform the development of subtype-specific polygenic risk scores.
Published: 2020
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3. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Author: Fachal, Laura, Aschard, Hugues, Beesley, Jonathan, Barnes, Daniel R., Allen, Jamie, Kar, Siddhartha, Pooley, Karen A., Dennis, Joe, Michailidou, Kyriaki, Turman, Constance, Soucy, Penny, Lemacon, Audrey, Lush, Michael, Tyrer, Jonathan P., Ghoussaini, Maya, Marjaneh, Mahdi Moradi, Jiang, Xia, Agata, Simona, Aittomaki, Kristiina, Rosario Alonso, M., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Auber, Bernd, Auer, Paul L., Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Amie M., Blomqvist, Carl, Blot, William, Bogdanova, Natalia, V, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Borg, Ake, Bosse, Kristin, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Brock, Ian W., Brooks-Wilson, Angela, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Cai, Qiuyin, Caldes, Trinidad, Caligo, Maria A., Camp, Nicola J., Campbell, Ian, Canzian, Federico, Carroll, Jason S., Carter, Brian D., Castelao, Jose E., Chiquette, Jocelyne, Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Collee, J. Margriet, Cornelissen, Sten, Couch, Fergus J., Cox, Angela, Cross, Simon S., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S., Domchek, Susan M., Doerk, Thilo, dos-Santos-Silva, Isabel, Droit, Arnaud, Dubois, Stephane, Dumont, Martine, Duran, Mercedes, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Fletcher, Olivia, Floris, Giuseppe, Flyger, Henrik, Foretova, Lenka, Foulkes, William D., Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gago-Dominguez, Manuela, Gambino, Gaetana, Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Saenz, Jose A., Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Tibiletti, Maria Grazia, Greene, Mark H., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guenel, Pascal, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hartikainen, Jaana M., Hartman, Mikael, He, Wei, Healey, Catherine S., Heemskerk-Gerritsen, Bernadette A. M., Heyworth, Jane, Hillemanns, Peter, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hopper, John L., Howell, Anthony, Huang, Guanmengqian, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Iwasaki, Motoki, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jankowitz, Rachel C., John, Esther M., Johnson, Nichola, Jones, Michael E., Jukkola-Vuorinen, Arja, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Kerin, Michael J., Khusnutdinova, Elza, Kiiski, Johanna, I, Kirk, Judy, Kitahara, Cari M., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Koutros, Stella, Kubelka-Sabit, Katerina, Kwong, Ava, Kyriacou, Kyriacos, Laitman, Yael, Lambrechts, Diether, Lee, Eunjung, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindblom, Annika, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Loud, Jennifer T., Lubinski, Jan, MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matsuo, Keitaro, Maurer, Tabea, Mavroudis, Dimitrios, Mayes, Rebecca, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Miller, Nicola, Montagna, Marco, Moreno, Fernando, Muir, Kenneth, Mulligan, Anna Marie, Munoz-Garzon, Victor M., Muranen, Taru A., Narod, Steven A., Nassir, Rami, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Finn C., Nikitina-Zake, Liene, Norman, Aaron, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan, Orr, Nick, Osorio, Ana, Pankratz, V. Shane, Papp, Janos, Park, Sue K., Park-Simon, Tjoung-Won, Parsons, Michael T., Paul, James, Pedersen, Inge Sokilde, Peissel, Bernard, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Angel Pujana, Miquel, Pylkas, Katri, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rau-Murthy, Rohini, Rennert, Gad, Risch, Harvey A., Robson, Mark, Romero, Atocha, Rossing, Maria, Saloustros, Emmanouil, Sanchez-Herrero, Estela, Sandler, Dale P., Santamarina, Marta, Saunders, Christobel, Sawyer, Elinor J., Scheuner, Maren T., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schoettker, Ben, Schuermann, Peter, Scott, Christopher, Scott, Rodney J., Senter, Leigha, Seynaeve, Caroline M., Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Shu, Xiao-Ou, Singer, Christian F., Slavin, Thomas P., Smichkoska, Snezhana, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Sutter, Christian, Swerdlow, Anthony J., Tamimi, Rulla M., Tan, Yen Yen, Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Tengstroem, Maria, Teo, Soo Hwang, Terry, Mary Beth, Teul, Alex, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A. E. M., Tomlinson, Ian, Torres, Diana, Torres-Mejia, Gabriela, Troester, Melissa A., Truong, Therese, Tung, Nadine, Tzardi, Maria, Ulmer, Hans-Ulrich, Vachon, Celine M., van Asperen, Christi J., van der Kolk, Lizet E., van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vogel, Maartje J., Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Yannoukakos, Drakoulis, Zhang, Yan, Zheng, Wei, Hunter, David, Pharoah, Paul D. P., Chang-Claude, Jenny, Garcia-Closas, Montserrat, Schmidt, Marjanka K., Milne, Roger L., Kristensen, Vessela N., French, Juliet D., Edwards, Stacey L., Antoniou, Antonis C., Chenevix-Trench, Georgia, Simard, Jacques, Easton, Douglas F., Kraft, Peter, Dunning, Alison M., Mari, Veronique, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Lallaoui, Hakima, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valerie, Lasset, Christine, Revillion, Francoise, Vennin, Paul, Muller, Daniele, Gomes, Denise Molina, Ingster, Olivier, Coupier, Isabelle, Pujol, Pascal, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, Bera, Odile, Rose, Mickaelle, Baurand, Amandine, Bertolone, Geoffrey, Faivre, Laurence, Dreyfus, Hlne, Leroux, Dominique, Venat-Bouvet, Laurence, Bezieau, Stephane, Delnatte, Capucine, Chiesa, Jean, Gilbert-Dussardier, Brigitte, Gesta, Paul, Prieur, Fabienne Prieur, Bronner, Myriam, Sokolowska, Johanna, Coulet, Florence, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Leone, Melanie, Fert-Ferrer, Sandra, Jiao, Yue, Lesueur, Fabienne Lesueur, Barouk-Simonet, Emmanuelle, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Toulas, Christine, Reimineras, Audrey, Sobol, Hagay, Bressac-de Paillerets, Brigitte, Cabaret, Odile, Caron, Olivier, Guillaud-Bataille, Marine, Rouleau, Etienne, Belotti, Muriel, Buecher, Bruno, Caputo, Sandrine, Colas, Chrystelle, De Pauw, Antoine, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Moncoutier, Virginie, Saule, Claire, Donaldson, Alan, Murray, Alex, Brady, Angela, Brewer, Carole, Pottinger, Caroline, Miller, Clare, Gallagher, David, Gregory, Helen, Cook, Jackie, Eason, Jacqueline, Adlard, Julian, Barwell, Julian, Ong, Kai-Ren, Snape, Katie, Walker, Lisa, Izatt, Louise, Side, Lucy, Rogers, Mark T., Porteous, Mary E., Ahmed, Munaza, Morrison, Patrick J., Brennan, Paul, Eeles, Ros, Davidson, Rosemarie, Sexton, Adrienne, Christian, Alice, Trainer, Alison, Spigelman, Allan, Fellows, Andrew, Shelling, Andrew, De Fazio, Anna, Blackburn, Anneke, Crook, Ashley, Meiser, Bettina, Patterson, Briony, Clarke, Christine, Hunt, Clare, Scott, Clare, Amor, David, Marsh, Deb, Edkins, Edward, Salisbury, Elizabeth, Haan, Eric, Neidermayr, Eveline, Macrea, Finlay, Farshid, Gelareh, Lindeman, Geoff, Trench, Georgia, Mann, Graham, Giles, Graham, Gill, Grantley, Thorne, Heather, Hickie, Ian, Winship, Ingrid, Flanagan, James, Kollias, James, Visvader, Jane, Taylor, Jessica, Burke, Jo, Saunus, Jodi, Forbes, John, Hopper, John, French, Juliet, Tucker, Kathy, Wu, Kathy, Phillips, Kelly, Lipton, Lara, Andrews, Leslie, Lobb, Lizz, Walker, Logan, Kentwell, Maira, Spurdle, Mandy, Cummings, Margaret, Gleeson, Margaret, Harris, Marion, Jenkins, Mark, Young, Mary Anne, Delatycki, Martin, Wallis, Mathew, Burgess, Matthew, Price, Melanie, Brown, Melissa, Southey, Melissa, Bogwitz, Michael, Field, Michael, Friedlander, Michael, Gattas, Michael, Saleh, Mona, Hayward, Nick, Pachter, Nick, Cohen, Paul, Duijf, Pascal, James, Paul, Simpson, Pete, Fong, Peter, Butow, Phyllis, Williams, Rachael, Kefford, Rick, Scott, Rodney, Milne, Roger, Balleine, Rosemary, Dawson, SarahJane, Lok, Sheau, O'Connell, Shona, Greening, Sian, Nightingale, Sophie, Edwards, Stacey, Fox, Stephen, Mclachlan, Sue-Anne, Lakhani, Sunil, Antill, Yoland, Aalfs, Cora, Meijers-Heijboer, Hanne, van Engelen, Klaartje, Gille, Hans, Boere, Ingrid, Collee, Margriet, van Deurzen, Carolien, Hooning, Maartje, Obdeijn, Inge-Marie, van den Ouweland, Ans, Seynaeve, Caroline, Siesling, Sabine, Verloop, Janneke, van Asperen, Christi, van Cronenburg, Twiggy, Blok, Rien, de Boer, Maaike, Garcia, Encarna Gomez, Adank, Muriel, Hogervorst, Frans, Jenner, Denise, van Leeuwen, Flora, Rookus, Matti, Russell, Nicola, Schmidt, Marjanka, van den Belt-Dusebout, Sandra, Kets, Carolien, Mensenkamp, Arjen, de Bock, Truuske, van Der Hout, Annemieke, Mourits, Marian, Oosterwijk, Jan, Ausems, Margreet, Koudijs, Marco, Marsh, Deborah, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, Dinny, Sachchithananthan, Mythily, Fachal, Laura, Aschard, Hugues, Beesley, Jonathan, Barnes, Daniel R., Allen, Jamie, Kar, Siddhartha, Pooley, Karen A., Dennis, Joe, Michailidou, Kyriaki, Turman, Constance, Soucy, Penny, Lemacon, Audrey, Lush, Michael, Tyrer, Jonathan P., Ghoussaini, Maya, Marjaneh, Mahdi Moradi, Jiang, Xia, Agata, Simona, Aittomaki, Kristiina, Rosario Alonso, M., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Auber, Bernd, Auer, Paul L., Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Amie M., Blomqvist, Carl, Blot, William, Bogdanova, Natalia, V, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Borg, Ake, Bosse, Kristin, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Brock, Ian W., Brooks-Wilson, Angela, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Cai, Qiuyin, Caldes, Trinidad, Caligo, Maria A., Camp, Nicola J., Campbell, Ian, Canzian, Federico, Carroll, Jason S., Carter, Brian D., Castelao, Jose E., Chiquette, Jocelyne, Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Collee, J. Margriet, Cornelissen, Sten, Couch, Fergus J., Cox, Angela, Cross, Simon S., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S., Domchek, Susan M., Doerk, Thilo, dos-Santos-Silva, Isabel, Droit, Arnaud, Dubois, Stephane, Dumont, Martine, Duran, Mercedes, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Fletcher, Olivia, Floris, Giuseppe, Flyger, Henrik, Foretova, Lenka, Foulkes, William D., Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gago-Dominguez, Manuela, Gambino, Gaetana, Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Saenz, Jose A., Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Tibiletti, Maria Grazia, Greene, Mark H., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guenel, Pascal, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hartikainen, Jaana M., Hartman, Mikael, He, Wei, Healey, Catherine S., Heemskerk-Gerritsen, Bernadette A. M., Heyworth, Jane, Hillemanns, Peter, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hopper, John L., Howell, Anthony, Huang, Guanmengqian, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Iwasaki, Motoki, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jankowitz, Rachel C., John, Esther M., Johnson, Nichola, Jones, Michael E., Jukkola-Vuorinen, Arja, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Kerin, Michael J., Khusnutdinova, Elza, Kiiski, Johanna, I, Kirk, Judy, Kitahara, Cari M., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Koutros, Stella, Kubelka-Sabit, Katerina, Kwong, Ava, Kyriacou, Kyriacos, Laitman, Yael, Lambrechts, Diether, Lee, Eunjung, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindblom, Annika, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Loud, Jennifer T., Lubinski, Jan, MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matsuo, Keitaro, Maurer, Tabea, Mavroudis, Dimitrios, Mayes, Rebecca, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Miller, Nicola, Montagna, Marco, Moreno, Fernando, Muir, Kenneth, Mulligan, Anna Marie, Munoz-Garzon, Victor M., Muranen, Taru A., Narod, Steven A., Nassir, Rami, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Finn C., Nikitina-Zake, Liene, Norman, Aaron, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan, Orr, Nick, Osorio, Ana, Pankratz, V. Shane, Papp, Janos, Park, Sue K., Park-Simon, Tjoung-Won, Parsons, Michael T., Paul, James, Pedersen, Inge Sokilde, Peissel, Bernard, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Angel Pujana, Miquel, Pylkas, Katri, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rau-Murthy, Rohini, Rennert, Gad, Risch, Harvey A., Robson, Mark, Romero, Atocha, Rossing, Maria, Saloustros, Emmanouil, Sanchez-Herrero, Estela, Sandler, Dale P., Santamarina, Marta, Saunders, Christobel, Sawyer, Elinor J., Scheuner, Maren T., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schoettker, Ben, Schuermann, Peter, Scott, Christopher, Scott, Rodney J., Senter, Leigha, Seynaeve, Caroline M., Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Shu, Xiao-Ou, Singer, Christian F., Slavin, Thomas P., Smichkoska, Snezhana, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Sutter, Christian, Swerdlow, Anthony J., Tamimi, Rulla M., Tan, Yen Yen, Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Tengstroem, Maria, Teo, Soo Hwang, Terry, Mary Beth, Teul, Alex, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A. E. M., Tomlinson, Ian, Torres, Diana, Torres-Mejia, Gabriela, Troester, Melissa A., Truong, Therese, Tung, Nadine, Tzardi, Maria, Ulmer, Hans-Ulrich, Vachon, Celine M., van Asperen, Christi J., van der Kolk, Lizet E., van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vogel, Maartje J., Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Yannoukakos, Drakoulis, Zhang, Yan, Zheng, Wei, Hunter, David, Pharoah, Paul D. P., Chang-Claude, Jenny, Garcia-Closas, Montserrat, Schmidt, Marjanka K., Milne, Roger L., Kristensen, Vessela N., French, Juliet D., Edwards, Stacey L., Antoniou, Antonis C., Chenevix-Trench, Georgia, Simard, Jacques, Easton, Douglas F., Kraft, Peter, Dunning, Alison M., Mari, Veronique, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Lallaoui, Hakima, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valerie, Lasset, Christine, Revillion, Francoise, Vennin, Paul, Muller, Daniele, Gomes, Denise Molina, Ingster, Olivier, Coupier, Isabelle, Pujol, Pascal, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, Bera, Odile, Rose, Mickaelle, Baurand, Amandine, Bertolone, Geoffrey, Faivre, Laurence, Dreyfus, Hlne, Leroux, Dominique, Venat-Bouvet, Laurence, Bezieau, Stephane, Delnatte, Capucine, Chiesa, Jean, Gilbert-Dussardier, Brigitte, Gesta, Paul, Prieur, Fabienne Prieur, Bronner, Myriam, Sokolowska, Johanna, Coulet, Florence, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Leone, Melanie, Fert-Ferrer, Sandra, Jiao, Yue, Lesueur, Fabienne Lesueur, Barouk-Simonet, Emmanuelle, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Toulas, Christine, Reimineras, Audrey, Sobol, Hagay, Bressac-de Paillerets, Brigitte, Cabaret, Odile, Caron, Olivier, Guillaud-Bataille, Marine, Rouleau, Etienne, Belotti, Muriel, Buecher, Bruno, Caputo, Sandrine, Colas, Chrystelle, De Pauw, Antoine, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Moncoutier, Virginie, Saule, Claire, Donaldson, Alan, Murray, Alex, Brady, Angela, Brewer, Carole, Pottinger, Caroline, Miller, Clare, Gallagher, David, Gregory, Helen, Cook, Jackie, Eason, Jacqueline, Adlard, Julian, Barwell, Julian, Ong, Kai-Ren, Snape, Katie, Walker, Lisa, Izatt, Louise, Side, Lucy, Rogers, Mark T., Porteous, Mary E., Ahmed, Munaza, Morrison, Patrick J., Brennan, Paul, Eeles, Ros, Davidson, Rosemarie, Sexton, Adrienne, Christian, Alice, Trainer, Alison, Spigelman, Allan, Fellows, Andrew, Shelling, Andrew, De Fazio, Anna, Blackburn, Anneke, Crook, Ashley, Meiser, Bettina, Patterson, Briony, Clarke, Christine, Hunt, Clare, Scott, Clare, Amor, David, Marsh, Deb, Edkins, Edward, Salisbury, Elizabeth, Haan, Eric, Neidermayr, Eveline, Macrea, Finlay, Farshid, Gelareh, Lindeman, Geoff, Trench, Georgia, Mann, Graham, Giles, Graham, Gill, Grantley, Thorne, Heather, Hickie, Ian, Winship, Ingrid, Flanagan, James, Kollias, James, Visvader, Jane, Taylor, Jessica, Burke, Jo, Saunus, Jodi, Forbes, John, Hopper, John, French, Juliet, Tucker, Kathy, Wu, Kathy, Phillips, Kelly, Lipton, Lara, Andrews, Leslie, Lobb, Lizz, Walker, Logan, Kentwell, Maira, Spurdle, Mandy, Cummings, Margaret, Gleeson, Margaret, Harris, Marion, Jenkins, Mark, Young, Mary Anne, Delatycki, Martin, Wallis, Mathew, Burgess, Matthew, Price, Melanie, Brown, Melissa, Southey, Melissa, Bogwitz, Michael, Field, Michael, Friedlander, Michael, Gattas, Michael, Saleh, Mona, Hayward, Nick, Pachter, Nick, Cohen, Paul, Duijf, Pascal, James, Paul, Simpson, Pete, Fong, Peter, Butow, Phyllis, Williams, Rachael, Kefford, Rick, Scott, Rodney, Milne, Roger, Balleine, Rosemary, Dawson, SarahJane, Lok, Sheau, O'Connell, Shona, Greening, Sian, Nightingale, Sophie, Edwards, Stacey, Fox, Stephen, Mclachlan, Sue-Anne, Lakhani, Sunil, Antill, Yoland, Aalfs, Cora, Meijers-Heijboer, Hanne, van Engelen, Klaartje, Gille, Hans, Boere, Ingrid, Collee, Margriet, van Deurzen, Carolien, Hooning, Maartje, Obdeijn, Inge-Marie, van den Ouweland, Ans, Seynaeve, Caroline, Siesling, Sabine, Verloop, Janneke, van Asperen, Christi, van Cronenburg, Twiggy, Blok, Rien, de Boer, Maaike, Garcia, Encarna Gomez, Adank, Muriel, Hogervorst, Frans, Jenner, Denise, van Leeuwen, Flora, Rookus, Matti, Russell, Nicola, Schmidt, Marjanka, van den Belt-Dusebout, Sandra, Kets, Carolien, Mensenkamp, Arjen, de Bock, Truuske, van Der Hout, Annemieke, Mourits, Marian, Oosterwijk, Jan, Ausems, Margreet, Koudijs, Marco, Marsh, Deborah, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, Dinny, and Sachchithananthan, Mythily
Abstract: Fine-mapping of causal variants and integration of epigenetic and chromatin conformation data identify likely target genes for 150 breast cancer risk regions. Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes.
Published: 2020

4. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Author: Ferreira, Manuel A., Gamazon, Eric R., Al-Ejeh, Fares, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Azzollini, Jacopo, Balmana, Judith, Barnes, Daniel R., Barrowdale, Daniel, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bolla, Manjeet K., Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Caldes, Trinidad, Caligo, Maria A., Campa, Daniele, Campbell, Ian, Canzian, Federico, Carter, Jonathan, Carter, Brian D., Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Doerk, Thilo, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Ejlertsen, Bent, Ellberg, Carolina, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gago-Dominguez, Manuela, Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, He, Wei, Heyworth, Jane, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoover, Robert N., Hopper, John L., Hulick, Peter J., Humphreys, Keith, Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jankowitz, Rachel C., John, Esther M., Johnson, Nichola, Joseph, Vijai, Karlan, Beth Y., Khusnutdinova, Elza, Kiiski, Johanna, I, Ko, Yon-Dschun, Jones, Michael E., Konstantopoulou, Irene, Kristensen, Vessela N., Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindstrom, Sara, Long, Jirong, Loud, Jennifer T., Lubinski, Jan, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Maurer, Tabea, Mavroudis, Dimitrios, McGuffog, Lesley, Meindl, Alfons, Menon, Usha, Michailidou, Kyriaki, Miller, Austin, Montagna, Marco, Moreno, Fernando, Moserle, Lidia, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nevelsteen, Ines, Nielsen, Finn C., Nikitina-Zake, Liene, Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan, Osorio, Ana, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Peterlongo, Paolo, Pharoah, Paul D. P., Plaseska-Karanfilska, Dijana, Poppe, Bruce, Presneau, Nadege, Radice, Paolo, Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Saloustros, Emmanouil, Sanden, Kristin, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Soucy, Penny, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stone, Jennifer, Swerdlow, Anthony J., Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Terry, Mary Beth, Teule, Alex, Thomassen, Mads, Thoene, Kathrin, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Truong, Therese, Tung, Nadine, Vachon, Celine M., van Asperen, Christi J., van den Ouweland, Ans M. W., van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Wang, Qin, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Ziogas, Argyrios, Kraft, Peter, Antoniou, Antonis C., Zheng, Wei, Easton, Douglas F., Milne, Roger L., Beesley, Jonathan, Chenevix-Trench, Georgia, Arnold, Norbert, Auber, Bernd, Bogdanova-Markov, Nadja, Borde, Julika, Caliebe, Almuth, Ditsch, Nina, Dworniczak, Bernd, Engert, Stefanie, Faust, Ulrike, Gehrig, Andrea, Hahnen, Eric, Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Just, Walter, Kast, Karin, Larsen, Mirjam, Lemke, Johannes, Niederacher, Dieter, Ott, Claus-Eric, Platzer, Konrad, Pohl-Rescigno, Esther, Ramser, Juliane, Rhiem, Kerstin, Steinemann, Doris, Sutter, Christian, Varon-Mateeva, Raymonda, Wang-Gohrke, Shan, Weber, Bernhard H. F., Prieur, Fabienne, Pujol, Pascal, Sagne, Charlotte, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Stoppa-Lyonnet, Dominique, Venat-Bouvet, Laurence, Adlard, Julian, Ahmed, Munaza, Barwell, Julian, Brady, Angela, Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Evans, D. Gareth, Gregory, Helen, Hanson, Helen, Henderson, Alex, Hodgson, Shirley, Izatt, Louise, Kennedy, M. John, Lalloo, Fiona, Miller, Clare, Morrison, Patrick J., Ong, Kai-ren, Perkins, Jo, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Harrington, Patricia A., Heemskerk-Gerritsen, Bernadette A. M., Rookus, Matti A., Seynaeve, Caroline M., van der Baan, Frederieke H., van der Hout, Annemieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Deurzen, Carolien H. M., van Doorn, Helena C., van Engelen, Klaartje, van Hest, Liselotte, van Os, Theo A. M., Verhoef, Senno, Vogel, Maartje J., Wijnen, Juul T., Miron, Alexander, Kapuscinski, Miroslav, Bane, Anita, Ross, Eric, Buys, Saundra S., Conner, Thomas A., Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane, Forbes, John, Lee, Soon C., Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas, Yip, Desmond, Ferreira, Manuel A., Gamazon, Eric R., Al-Ejeh, Fares, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Azzollini, Jacopo, Balmana, Judith, Barnes, Daniel R., Barrowdale, Daniel, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bolla, Manjeet K., Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Caldes, Trinidad, Caligo, Maria A., Campa, Daniele, Campbell, Ian, Canzian, Federico, Carter, Jonathan, Carter, Brian D., Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Doerk, Thilo, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Ejlertsen, Bent, Ellberg, Carolina, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gago-Dominguez, Manuela, Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, He, Wei, Heyworth, Jane, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoover, Robert N., Hopper, John L., Hulick, Peter J., Humphreys, Keith, Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jankowitz, Rachel C., John, Esther M., Johnson, Nichola, Joseph, Vijai, Karlan, Beth Y., Khusnutdinova, Elza, Kiiski, Johanna, I, Ko, Yon-Dschun, Jones, Michael E., Konstantopoulou, Irene, Kristensen, Vessela N., Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindstrom, Sara, Long, Jirong, Loud, Jennifer T., Lubinski, Jan, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Maurer, Tabea, Mavroudis, Dimitrios, McGuffog, Lesley, Meindl, Alfons, Menon, Usha, Michailidou, Kyriaki, Miller, Austin, Montagna, Marco, Moreno, Fernando, Moserle, Lidia, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nevelsteen, Ines, Nielsen, Finn C., Nikitina-Zake, Liene, Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan, Osorio, Ana, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Peterlongo, Paolo, Pharoah, Paul D. P., Plaseska-Karanfilska, Dijana, Poppe, Bruce, Presneau, Nadege, Radice, Paolo, Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Saloustros, Emmanouil, Sanden, Kristin, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Soucy, Penny, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stone, Jennifer, Swerdlow, Anthony J., Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Terry, Mary Beth, Teule, Alex, Thomassen, Mads, Thoene, Kathrin, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Truong, Therese, Tung, Nadine, Vachon, Celine M., van Asperen, Christi J., van den Ouweland, Ans M. W., van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Wang, Qin, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Ziogas, Argyrios, Kraft, Peter, Antoniou, Antonis C., Zheng, Wei, Easton, Douglas F., Milne, Roger L., Beesley, Jonathan, Chenevix-Trench, Georgia, Arnold, Norbert, Auber, Bernd, Bogdanova-Markov, Nadja, Borde, Julika, Caliebe, Almuth, Ditsch, Nina, Dworniczak, Bernd, Engert, Stefanie, Faust, Ulrike, Gehrig, Andrea, Hahnen, Eric, Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Just, Walter, Kast, Karin, Larsen, Mirjam, Lemke, Johannes, Niederacher, Dieter, Ott, Claus-Eric, Platzer, Konrad, Pohl-Rescigno, Esther, Ramser, Juliane, Rhiem, Kerstin, Steinemann, Doris, Sutter, Christian, Varon-Mateeva, Raymonda, Wang-Gohrke, Shan, Weber, Bernhard H. F., Prieur, Fabienne, Pujol, Pascal, Sagne, Charlotte, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Stoppa-Lyonnet, Dominique, Venat-Bouvet, Laurence, Adlard, Julian, Ahmed, Munaza, Barwell, Julian, Brady, Angela, Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Evans, D. Gareth, Gregory, Helen, Hanson, Helen, Henderson, Alex, Hodgson, Shirley, Izatt, Louise, Kennedy, M. John, Lalloo, Fiona, Miller, Clare, Morrison, Patrick J., Ong, Kai-ren, Perkins, Jo, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Harrington, Patricia A., Heemskerk-Gerritsen, Bernadette A. M., Rookus, Matti A., Seynaeve, Caroline M., van der Baan, Frederieke H., van der Hout, Annemieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Deurzen, Carolien H. M., van Doorn, Helena C., van Engelen, Klaartje, van Hest, Liselotte, van Os, Theo A. M., Verhoef, Senno, Vogel, Maartje J., Wijnen, Juul T., Miron, Alexander, Kapuscinski, Miroslav, Bane, Anita, Ross, Eric, Buys, Saundra S., Conner, Thomas A., Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane, Forbes, John, Lee, Soon C., Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas, and Yip, Desmond
Abstract: Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.
Published: 2019

5. Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Author: Qian, Frank, Rookus, Matti A., Leslie, Goska, Risch, Harvey A., Greene, Mark H., Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomaki, Kristiina, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Ausems, Margreet G. E. M., Azzollini, Jacopo, Barrowdale, Daniel, Barwell, Julian, Benitez, Javier, Bialkowska, Katarzyna, Bonadona, Valerie, Borde, Julika, Borg, Ake, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Carter, Jonathan, Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Collee, J. Margriet, Collonge-Rame, Marie-Agnes, Couch, Fergus J., Daly, Mary B., Delnatte, Capucine, Diez, Orland, Domchek, Susan M., Dorfling, Cecilia M., Eason, Jacqueline, Easton, Douglas F., Eeles, Ros, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Feliubado, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Garcia-Barberan, Vanesa, Gehrig, Andrea, Glendon, Gord, Godwin, Andrew K., Garcia, Encarna B. Gomez, Hamann, Ute, Hauke, Jan, Hopper, John L., Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, Janavicius, Ramunas, John, Esther M., Karlan, Beth Y., Kets, Carolien M., Laitman, Yael, Lazaro, Conxi, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Loud, Jennifer T., Lubinski, Jan, Lukomska, Alicja, McGuffog, Lesley, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Miller, Austin, Montagna, Marco, Mooij, Thea M., Mouret-Fourme, Emmanuelle, Nathanson, Katherine L., Nehoray, Bita, Neuhausen, Susan L., Nevanlinna, Heli, Nielsen, Finn C., Offit, Kenneth, Olah, Edith, Ong, Kai-ren, Oosterwijk, Jan C., Ottini, Laura, Parsons, Michael T., Peterlongo, Paolo, Pfeiler, Georg, Pradhan, Nisha, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Robson, Mark, Rodriguez, Gustavo C., Salani, Ritu, Scheuner, Maren T., Schmutzler, Rita K., Shah, Payal D., Side, Lucy E., Simard, Jacques, Singer, Christian F., Steinemann, Doris, Stoppa-Lyonnet, Dominique, Tan, Yen Yen, Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tung, Nadine, van Asperen, Christi J., van Engelen, Klaartje, van Rensburg, Elizabeth J., Venat-Bouvet, Laurence, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Weitze, Jeffrey N., Yannoukakos, Drakoulis, Antoniou, Antonis C., Goldgar, David E., Olopade, Olufunmilayo, I, Chenevix-Trench, Georgia, Rebbeck, Timothy R., Huo, Dezheng, Qian, Frank, Rookus, Matti A., Leslie, Goska, Risch, Harvey A., Greene, Mark H., Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomaki, Kristiina, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Ausems, Margreet G. E. M., Azzollini, Jacopo, Barrowdale, Daniel, Barwell, Julian, Benitez, Javier, Bialkowska, Katarzyna, Bonadona, Valerie, Borde, Julika, Borg, Ake, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Carter, Jonathan, Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Collee, J. Margriet, Collonge-Rame, Marie-Agnes, Couch, Fergus J., Daly, Mary B., Delnatte, Capucine, Diez, Orland, Domchek, Susan M., Dorfling, Cecilia M., Eason, Jacqueline, Easton, Douglas F., Eeles, Ros, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Feliubado, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Garcia-Barberan, Vanesa, Gehrig, Andrea, Glendon, Gord, Godwin, Andrew K., Garcia, Encarna B. Gomez, Hamann, Ute, Hauke, Jan, Hopper, John L., Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, Janavicius, Ramunas, John, Esther M., Karlan, Beth Y., Kets, Carolien M., Laitman, Yael, Lazaro, Conxi, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Loud, Jennifer T., Lubinski, Jan, Lukomska, Alicja, McGuffog, Lesley, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Miller, Austin, Montagna, Marco, Mooij, Thea M., Mouret-Fourme, Emmanuelle, Nathanson, Katherine L., Nehoray, Bita, Neuhausen, Susan L., Nevanlinna, Heli, Nielsen, Finn C., Offit, Kenneth, Olah, Edith, Ong, Kai-ren, Oosterwijk, Jan C., Ottini, Laura, Parsons, Michael T., Peterlongo, Paolo, Pfeiler, Georg, Pradhan, Nisha, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Robson, Mark, Rodriguez, Gustavo C., Salani, Ritu, Scheuner, Maren T., Schmutzler, Rita K., Shah, Payal D., Side, Lucy E., Simard, Jacques, Singer, Christian F., Steinemann, Doris, Stoppa-Lyonnet, Dominique, Tan, Yen Yen, Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tung, Nadine, van Asperen, Christi J., van Engelen, Klaartje, van Rensburg, Elizabeth J., Venat-Bouvet, Laurence, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Weitze, Jeffrey N., Yannoukakos, Drakoulis, Antoniou, Antonis C., Goldgar, David E., Olopade, Olufunmilayo, I, Chenevix-Trench, Georgia, Rebbeck, Timothy R., and Huo, Dezheng
Abstract: BACKGROUND: Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown. METHODS: We applied a Mendelian randomisation approach to examine height/BMI with ovarian cancer risk using the Consortium of Investigators for the Modifiers of BRCA1/2 (CIMBA) data set, comprising 14,676 BRCA1 and 7912 BRCA2 mutation carriers, with 2923 ovarian cancer cases. We created a height genetic score (height-GS) using 586 height-associated variants and a BMI genetic score (BMI-GS) using 93 BMI-associated variants. Associations were assessed using weighted Cox models. RESULTS: Observed height was not associated with ovarian cancer risk (hazard ratio [HR]: 1.07 per 10-cm increase in height, 95% confidence interval [CI]: 0.94-1.23). Height-GS showed similar results (HR = 1.02, 95% CI: 0.85-1.23). Higher BMI was significantly associated with increased risk in premenopausal women with HR = 1.25 (95% CI: 1.06-1.48) and HR = 1.59 (95% CI: 1.08-2.33) per 5-kg/m(2) increase in observed and genetically determined BMI, respectively. No association was found for postmenopausal women. Interaction between menopausal status and BMI was significant (P-interaction < 0.05). CONCLUSION: Our observation of a positive association between BMI and ovarian cancer risk in premenopausal BRCA1/2 mutation carriers is consistent with findings in the general population.
Published: 2019

6. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Author: Figlioli, Gisella, Bogliolo, Massimo, Catucci, Irene, Caleca, Laura, Viz Lasheras, Sandra, Pujol, Roser, Kiiski, Johanna, I, Muranen, Taru A., Barnes, Daniel R., Dennis, Joe, Michailidou, Kyriaki, Bolla, Manjeet K., Leslie, Goska, Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agata, Simona, Cadoo, Karen, Agnarsson, Bjarni A., Ahearn, Thomas, Aittomaki, Kristiina, Ambrosone, Christine B., Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Auber, Bernd, Auvinen, Paivi, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Barwell, Julian, Freeman, Laura E. Beane, Beauparlant, Charles Joly, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M., Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Borg, Ake, Brady, Angela F., Brauch, Hiltrud, Brenner, Hermann, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campa, Daniele, Campbell, Ian G., Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Claes, Kathleen B. M., Clarke, Christine L., Collavoli, Anita, Conner, Thomas A., Cox, David G., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S., Ditsch, Nina, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Foulkes, William D., Friebel, Tara M., Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Gago-Dominguez, Manuela, Gao, Chi, Gapstur, Susan M., Garber, Judy, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Guenel, Pascal, Gutierrez-Barrera, Angelica M., Haeberle, Lothar, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hein, Alexander, Heyworth, Jane, Hillemanns, Peter, Hollestelle, Antoinette, Hopper, John L., Hosgood, H. Dean, III, Howell, Anthony, Hu, Chunling, Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Karlan, Beth Y., Khusnutdinova, Elza, Kitahara, Cari M., Konstantopoulou, Irene, Koutros, Stella, Kraft, Peter, Lambrechts, Diether, Lazaro, Conxi, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lilyquist, Jenna, Loud, Jennifer T., Lu, Karen H., Luben, Robert N., Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Maurer, Tabea, Mavroudis, Dimitrios, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Newman, William G., Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Nielsen, Sarah, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olshan, Andrew F., Olson, Janet E., Olsson, Hakan, Osorio, Ana, Ottini, Laura, Peissel, Bernard, Peixoto, Ana, Peto, Julian, Plaseska-Karanfilska, Dijana, Pocza, Timea, Presneau, Nadege, Angel Pujana, Miquel, Punie, Kevin, Rack, Brigitte, Rantala, Johanna, Rashid, Muhammad U., Rau-Murthy, Rohini, Rennert, Gad, Lejbkowicz, Flavio, Rhenius, Valerie, Romero, Atocha, Rookus, Matti A., Ross, Eric A., Rossing, Maria, Rudaitis, Vilius, Ruebner, Matthias, Saloustros, Emmanouil, Sanden, Kristin, Santamarina, Marta, Scheuner, Maren T., Schmutzler, Rita K., Schneider, Michael, Scott, Christopher, Senter, Leigha, Shah, Mitul, Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Sohn, Christof, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steele, Linda, Stoppa-Lyonnet, Dominique, Tapper, William J., Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Thompson, Jennifer, Thull, Darcy L., Tischkowitz, Marc, Tollenaar, Rob A. E. M., Torres, Diana, Troester, Melissa A., Truong, Therese, Tung, Nadine, Untch, Michael, Vachon, Celine M., van Rensburg, Elizabeth J., van Veen, Elke M., Vega, Ana, Viel, Alessandra, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Wieme, Greet, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Dunning, Alison M., Lush, Michael, Wang, Qin, McGuffog, Lesley, Parsons, Michael T., Pharoah, Paul D. P., Fostira, Florentia, Toland, Amanda E., Andrulis, Irene L., Ramus, Susan J., Swerdlow, Anthony J., Greene, Mark H., Chung, Wendy K., Milne, Roger L., Chenevix-Trench, Georgia, Doerk, Thilo, Schmidt, Marjanka K., Easton, Douglas F., Radice, Paolo, Hahnen, Eric, Antoniou, Antonis C., Couch, Fergus J., Nevanlinna, Heli, Surralles, Jordi, Peterlongo, Paolo, Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane, Forbes, John, Lee, C. Soon, Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Scott, Rodney, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas, Yip, Desmond, Zeps, Nikolajs, Belotti, Muriel, Bertrand, Ophelie, Birot, Anne-Marie, Buecher, Bruno, Caputo, Sandrine, Dupre, Anais, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Le Mentec, Marine, Moncoutier, Virginie, de Pauw, Antoine, Saule, Claire, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Leone, Mlanie, Bressac-de-Paillerets, Brigitte, Caron, Olivier, Guillaud-Bataille, Marine, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valerie, Lasset, Christine, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Bourdon, Violaine, Nogues, Catherine, Noguchi, Tetsuro, Popovici, Cornel, Remenieras, Audrey, Sobol, Hagay, Coupier, Isabelle, Pujol, Pascal, Adenis, Claude, Dumont, Aurelie, Revillion, Francoise, Muller, Daniele, Barouk-Simonet, Emmanuelle, Bonnet, Francoise, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Guimbaud, Rosine, Feillel, Viviane, Toulas, Christine, Dreyfus, Helene, Leroux, Christine Dominique, Peysselon, Magalie, Rebischung, Christine, Legrand, Clementine, Baurand, Amandine, Bertolone, Geoffrey, Coron, Fanny, Faivre, Laurence, Jacquot, Caroline, Lizard, Sarab, Kientz, Caroline, Lebrun, Marine, Prieur, Fabienne, Fert-Ferrer, Sandra, Mari, Vronique, Venat-Bouvet, Laurence, Bezieau, Stephane, Delnatte, Capucine, Mortemousque, Isabelle, Colas, Chrystelle, Coulet, Florence, Soubrier, Florent, Warcoin, Mathilde, Bronner, Myriam, Sokolowska, Johanna, Collonge-Rame, Marie-Agnes, Damette, Alexandre, Gesta, Paul, Lallaoui, Hakima, Chiesa, Jean, Molina-Gomes, Denise, Ingster, Olivier, Manouvrier-Hanu, Sylvie, Lejeune, Sophie, Aghmesheh, Morteza, Greening, Sian, Amor, David, Gattas, Mike, Botes, Leon, Buckley, Michael, Friedlander, Michael, Koehler, Jessica, Meiser, Bettina, Saleh, Mona, Salisbury, Elizabeth, Trainer, Alison, Tucker, Kathy, Antill, Yoland, Dobrovic, Alexander, Fellows, Andrew, Fox, Stephen, Harris, Marion, Nightingale, Sophie, Phillips, Kelly, Sambrook, Joe, Thorne, Heather, Armitage, Shane, Arnold, Leanne, Kefford, Rick, Kirk, Judy, Rickard, Edwina, Bastick, Patti, Beesley, Jonathan, Hayward, Nick, Spurdle, Amanda, Walker, Logan, Beilby, John, Saunders, Christobel, Bennett, Ian, Blackburn, Anneke, Bogwitz, Michael, Gaff, Clara, Lindeman, Geoff, Pachter, Nick, Scott, Clare, Sexton, Adrienne, Visvader, Jane, Taylor, Jessica, Winship, Ingrid, Brennan, Meagan, Brown, Melissa, French, Juliet, Edwards, Stacey, Burgess, Matthew, Burke, Jo, Patterson, Briony, Butow, Phyllis, Culling, Bronwyn, Caldon, Liz, Callen, David, Chauhan, Deepa, Eisenbruch, Maurice, Heiniger, Louise, Chauhan, Manisha, Christian, Alice, Dixon, Joanne, Kidd, Alexa, Cohen, Paul, Colley, Alison, Fenton, Georgina, Crook, Ashley, Dickson, Rebecca, Field, Michael, Cui, James, Cummings, Margaret, Dawson, Sarah-Jane, DeFazio, Anna, Delatycki, Martin, Dudding, Tracy, Edkins, Ted, Farshid, Gelareh, Flanagan, James, Fong, Peter, Forrest, Laura, Gallego-Ortega, David, George, Peter, Gill, Grantley, Kollias, James, Haan, Eric, Hart, Stewart, Jenkins, Mark, Hunt, Clare, Lakhani, Sunil, Lipton, Lara, Lobb, Liz, Mann, Graham, McLachlan, Sue Anne, O'Connell, Shona, O'Sullivan, Sarah, Pieper, Ellen, Robinson, Bridget, Saunus, Jodi, Scott, Elizabeth, Shelling, Andrew, Williams, Rachael, Young, Mary Ann, Figlioli, Gisella, Bogliolo, Massimo, Catucci, Irene, Caleca, Laura, Viz Lasheras, Sandra, Pujol, Roser, Kiiski, Johanna, I, Muranen, Taru A., Barnes, Daniel R., Dennis, Joe, Michailidou, Kyriaki, Bolla, Manjeet K., Leslie, Goska, Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agata, Simona, Cadoo, Karen, Agnarsson, Bjarni A., Ahearn, Thomas, Aittomaki, Kristiina, Ambrosone, Christine B., Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Auber, Bernd, Auvinen, Paivi, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Barwell, Julian, Freeman, Laura E. Beane, Beauparlant, Charles Joly, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M., Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Borg, Ake, Brady, Angela F., Brauch, Hiltrud, Brenner, Hermann, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campa, Daniele, Campbell, Ian G., Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Claes, Kathleen B. M., Clarke, Christine L., Collavoli, Anita, Conner, Thomas A., Cox, David G., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S., Ditsch, Nina, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Foulkes, William D., Friebel, Tara M., Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Gago-Dominguez, Manuela, Gao, Chi, Gapstur, Susan M., Garber, Judy, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Guenel, Pascal, Gutierrez-Barrera, Angelica M., Haeberle, Lothar, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hein, Alexander, Heyworth, Jane, Hillemanns, Peter, Hollestelle, Antoinette, Hopper, John L., Hosgood, H. Dean, III, Howell, Anthony, Hu, Chunling, Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Karlan, Beth Y., Khusnutdinova, Elza, Kitahara, Cari M., Konstantopoulou, Irene, Koutros, Stella, Kraft, Peter, Lambrechts, Diether, Lazaro, Conxi, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lilyquist, Jenna, Loud, Jennifer T., Lu, Karen H., Luben, Robert N., Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Maurer, Tabea, Mavroudis, Dimitrios, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Newman, William G., Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Nielsen, Sarah, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olshan, Andrew F., Olson, Janet E., Olsson, Hakan, Osorio, Ana, Ottini, Laura, Peissel, Bernard, Peixoto, Ana, Peto, Julian, Plaseska-Karanfilska, Dijana, Pocza, Timea, Presneau, Nadege, Angel Pujana, Miquel, Punie, Kevin, Rack, Brigitte, Rantala, Johanna, Rashid, Muhammad U., Rau-Murthy, Rohini, Rennert, Gad, Lejbkowicz, Flavio, Rhenius, Valerie, Romero, Atocha, Rookus, Matti A., Ross, Eric A., Rossing, Maria, Rudaitis, Vilius, Ruebner, Matthias, Saloustros, Emmanouil, Sanden, Kristin, Santamarina, Marta, Scheuner, Maren T., Schmutzler, Rita K., Schneider, Michael, Scott, Christopher, Senter, Leigha, Shah, Mitul, Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Sohn, Christof, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steele, Linda, Stoppa-Lyonnet, Dominique, Tapper, William J., Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Thompson, Jennifer, Thull, Darcy L., Tischkowitz, Marc, Tollenaar, Rob A. E. M., Torres, Diana, Troester, Melissa A., Truong, Therese, Tung, Nadine, Untch, Michael, Vachon, Celine M., van Rensburg, Elizabeth J., van Veen, Elke M., Vega, Ana, Viel, Alessandra, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Wieme, Greet, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Dunning, Alison M., Lush, Michael, Wang, Qin, McGuffog, Lesley, Parsons, Michael T., Pharoah, Paul D. P., Fostira, Florentia, Toland, Amanda E., Andrulis, Irene L., Ramus, Susan J., Swerdlow, Anthony J., Greene, Mark H., Chung, Wendy K., Milne, Roger L., Chenevix-Trench, Georgia, Doerk, Thilo, Schmidt, Marjanka K., Easton, Douglas F., Radice, Paolo, Hahnen, Eric, Antoniou, Antonis C., Couch, Fergus J., Nevanlinna, Heli, Surralles, Jordi, Peterlongo, Paolo, Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane, Forbes, John, Lee, C. Soon, Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Scott, Rodney, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas, Yip, Desmond, Zeps, Nikolajs, Belotti, Muriel, Bertrand, Ophelie, Birot, Anne-Marie, Buecher, Bruno, Caputo, Sandrine, Dupre, Anais, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Le Mentec, Marine, Moncoutier, Virginie, de Pauw, Antoine, Saule, Claire, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Leone, Mlanie, Bressac-de-Paillerets, Brigitte, Caron, Olivier, Guillaud-Bataille, Marine, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valerie, Lasset, Christine, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Bourdon, Violaine, Nogues, Catherine, Noguchi, Tetsuro, Popovici, Cornel, Remenieras, Audrey, Sobol, Hagay, Coupier, Isabelle, Pujol, Pascal, Adenis, Claude, Dumont, Aurelie, Revillion, Francoise, Muller, Daniele, Barouk-Simonet, Emmanuelle, Bonnet, Francoise, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Guimbaud, Rosine, Feillel, Viviane, Toulas, Christine, Dreyfus, Helene, Leroux, Christine Dominique, Peysselon, Magalie, Rebischung, Christine, Legrand, Clementine, Baurand, Amandine, Bertolone, Geoffrey, Coron, Fanny, Faivre, Laurence, Jacquot, Caroline, Lizard, Sarab, Kientz, Caroline, Lebrun, Marine, Prieur, Fabienne, Fert-Ferrer, Sandra, Mari, Vronique, Venat-Bouvet, Laurence, Bezieau, Stephane, Delnatte, Capucine, Mortemousque, Isabelle, Colas, Chrystelle, Coulet, Florence, Soubrier, Florent, Warcoin, Mathilde, Bronner, Myriam, Sokolowska, Johanna, Collonge-Rame, Marie-Agnes, Damette, Alexandre, Gesta, Paul, Lallaoui, Hakima, Chiesa, Jean, Molina-Gomes, Denise, Ingster, Olivier, Manouvrier-Hanu, Sylvie, Lejeune, Sophie, Aghmesheh, Morteza, Greening, Sian, Amor, David, Gattas, Mike, Botes, Leon, Buckley, Michael, Friedlander, Michael, Koehler, Jessica, Meiser, Bettina, Saleh, Mona, Salisbury, Elizabeth, Trainer, Alison, Tucker, Kathy, Antill, Yoland, Dobrovic, Alexander, Fellows, Andrew, Fox, Stephen, Harris, Marion, Nightingale, Sophie, Phillips, Kelly, Sambrook, Joe, Thorne, Heather, Armitage, Shane, Arnold, Leanne, Kefford, Rick, Kirk, Judy, Rickard, Edwina, Bastick, Patti, Beesley, Jonathan, Hayward, Nick, Spurdle, Amanda, Walker, Logan, Beilby, John, Saunders, Christobel, Bennett, Ian, Blackburn, Anneke, Bogwitz, Michael, Gaff, Clara, Lindeman, Geoff, Pachter, Nick, Scott, Clare, Sexton, Adrienne, Visvader, Jane, Taylor, Jessica, Winship, Ingrid, Brennan, Meagan, Brown, Melissa, French, Juliet, Edwards, Stacey, Burgess, Matthew, Burke, Jo, Patterson, Briony, Butow, Phyllis, Culling, Bronwyn, Caldon, Liz, Callen, David, Chauhan, Deepa, Eisenbruch, Maurice, Heiniger, Louise, Chauhan, Manisha, Christian, Alice, Dixon, Joanne, Kidd, Alexa, Cohen, Paul, Colley, Alison, Fenton, Georgina, Crook, Ashley, Dickson, Rebecca, Field, Michael, Cui, James, Cummings, Margaret, Dawson, Sarah-Jane, DeFazio, Anna, Delatycki, Martin, Dudding, Tracy, Edkins, Ted, Farshid, Gelareh, Flanagan, James, Fong, Peter, Forrest, Laura, Gallego-Ortega, David, George, Peter, Gill, Grantley, Kollias, James, Haan, Eric, Hart, Stewart, Jenkins, Mark, Hunt, Clare, Lakhani, Sunil, Lipton, Lara, Lobb, Liz, Mann, Graham, McLachlan, Sue Anne, O'Connell, Shona, O'Sullivan, Sarah, Pieper, Ellen, Robinson, Bridget, Saunus, Jodi, Scott, Elizabeth, Shelling, Andrew, Williams, Rachael, and Young, Mary Ann
Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PAM, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and pArg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM(-/-) patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors.
Published: 2019

7. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Author: Phelan, Catherine M., Kuchenbaecker, Karoline B., Tyrer, Jonathan P., Kar, Siddhartha P., Lawrenson, Kate, Winham, Stacey J., Dennis, Joe, Pirie, Ailith, Riggan, Marjorie J., Chornokur, Ganna, Earp, Madalene A., Lyra, Paulo C., Jr., Lee, Janet M., Coetzee, Simon, Beesley, Jonathan, McGuffog, Lesley, Soucy, Penny, Dicks, Ed, Lee, Andrew, Barrowdale, Daniel, Lecarpentier, Julie, Leslie, Goska, Aalfs, Cora M., Aben, Katja K. H., Adams, Marcia, Adlard, Julian, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia, Aravantinos, Gerasimos, Arnold, Norbert, Arun, Banu K., Arver, Brita, Azzollini, Jacopo, Balmana, Judith, Banerjee, Susana N., Barjhoux, Laure, Barkardottir, Rosa B., Bean, Yukie, Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q., Birrer, Michael J., Bjorge, Line, Black, Amanda, Blankstein, Kenneth, Blok, Marinus J., Bodelon, Clara, Bogdanova, Natalia, Bojesen, Anders, Bonanni, Bernardo, Borg, Ake, Bradbury, Angela R., Brenton, James D., Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Buecher, Bruno, Butzow, Ralf, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Cannioto, Rikki, Carney, Michael E., Cescon, Terence, Chan, Salina B., Chang-Claude, Jenny, Chanock, Stephen, Chen, Xiao Qing, Chiew, Yoke-Eng, Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Conner, Thomas, Cook, Linda S., Cook, Jackie, Cramer, Daniel W., Cunningham, Julie M., D'Aloisio, Aimee A., Daly, Mary B., Damiola, Francesca, Damirovna, Sakaeva Dina, Dansonka-Mieszkowska, Agnieszka, Dao, Fanny, Davidson, Rosemarie, DeFazio, Anna, Delnatte, Capucine, Doheny, Kimberly F., Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer Anne, Domchek, Susan M., Dorfling, Cecilia M., Dork, Thilo, Dossus, Laure, Duran, Mercedes, Durst, Matthias, Dworniczak, Bernd, Eccles, Diana, Edwards, Todd, Eeles, Ros, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B., Ellis, Steve, Elvira, Mingajeva, Eng, Kevin H., Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Ferguson, Sarah, Ferrer, Sandra Fert, Flanagan, James M., Fogarty, Zachary C., Fortner, Renee T., Fostira, Florentia, Foulkes, William D., Fountzilas, George, Fridley, Brooke L., Friebel, Tara M., Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Garcia, Maria J., Garcia-Barberan, Vanesa, Gehrig, Andrea, Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G., Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Goranova, Teodora, Gore, Martin, Greene, Mark H., Gronwald, Jacek, Gruber, Stephen, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hamann, Ute, Hansen, Thomas V. O., Harrington, Patricia A., Harris, Holly R., Hauke, Jan, Hein, Alexander, Henderson, Alex, Hildebrandt, Michelle A. T., Hillemanns, Peter, Hodgson, Shirley, Hogdall, Claus K., Hogdall, Estrid, Hogervorst, Frans B. L., Holland, Helene, Hooning, Maartje J., Hosking, Karen, Huang, Ruea-Yea, Hulick, Peter J., Hung, Jillian, Hunter, David J., Huntsman, David G., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Iversen, Edwin S., Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jernetz, Mats, Jensen, Allan, Jensen, Uffe Birk, John, Esther M., Johnatty, Sharon, Jones, Michael E., Kannisto, Paivi, Karlan, Beth Y., Karnezis, Anthony, Kast, Karin, Kennedy, Catherine J., Khusnutdinova, Elza, Kiemeney, Lambertus A., Kiiski, Johanna I., Kim, Sung-Won, Kjaer, Susanne K., Kobel, Martin, Kopperud, Reidun K., Kruse, Torben A., Kupryjanczyk, Jolanta, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Larranaga, Nerea, Larson, Melissa C., Lazaro, Conxi, Le, Nhu D., Le Marchand, Loic, Lee, Jong Won, Lele, Shashikant B., Leminen, Arto, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A., Liang, Dong, Liebrich, Clemens, Lilyquist, Jenna, Lipworth, Loren, Lissowska, Jolanta, Lu, Karen H., Lubinski, Jan, Luccarini, Craig, Lundvall, Lene, Mai, Phuong L., Mendoza-Fandino, Gustavo, Manoukian, Siranoush, Massuger, Leon F. 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M., Peissel, Bernard, Peixoto, Ana, Pejovic, Tanja, Pelttari, Liisa M., Permuth, Jennifer B., Peterlongo, Paolo, Pezzani, Lidia, Pfeiler, Georg, Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C., Piskorz, Anna M., Poblete, Samantha R., Pocza, Timea, Poole, Elizabeth M., Poppe, Bruce, Porteous, Mary E., Prieur, Fabienne, Prokofyeva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pujol, Pascal, Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rhiem, Kerstin, Rice, Patricia, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C., Rodriguez-Antona, Cristina, Romm, Jane, Rookus, Matti A., Rossing, Mary Anne, Rothstein, Joseph H., Rudolph, Anja, Runnebaum, Ingo B., Salvesen, Helga B., Sandler, Dale P., Schoemaker, Minouk J., Senter, Leigha, Setiawan, V. Wendy, Severi, Gianluca, Sharma, Priyanka, Shelford, Tameka, Siddiqui, Nadeem, Side, Lucy E., Sieh, Weiva, Singer, Christian F., Sobol, Hagay, Song, Honglin, Southey, Melissa C., Spurdle, Amanda B., Stadler, Zsofia, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sucheston-Campbell, Lara E., Sukiennicki, Grzegorz, Sutphen, Rebecca, Sutter, Christian, Swerdlow, Anthony J., Szabo, Csilla I., Szafron, Lukasz, Tan, Yen Y., Taylor, Jack A., Tea, Muy-Kheng, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Kathryn L., Thompson, Pamela J., Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L., Tihomirova, Laima, Tinker, Anna V., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tone, Alicia, Trabert, Britton, Travis, Ruth C., Trichopoulou, Antonia, Tung, Nadine, Tworoger, Shelley S., Van Altena, Anne M., Van den Berg, David, van der Hout, Annemarie H., van der Luijt, Rob B., Van Heetvelde, Mattias, Van Nieuwenhuysen, Els, Van Rensburg, Elizabeth J., Vanderstichele, Adriaan, Varon-Mateeva, Raymonda, Vega, Ana, Edwards, Digna Velez, Vergote, Ignace, Vierkant, Robert A., Vijai, Joseph, Vratimos, Athanassios, Walker, Lisa, Walsh, Christine, Wand, Dorothea, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Webb, Penelope M., Weinberg, Clarice R., Weitzel, Jeffrey N., Wentzensen, Nicolas, Whittemore, Alice S., Wijnen, Juul T., Wilkens, Lynne R., Wolk, Alicja, Woo, Michelle, Wu, Xifeng, Wu, Anna H., Yang, Hannah, Yannoukakos, Drakoulis, Ziogas, Argyrios, Zorn, Kristin K., Narod, Steven A., Easton, Douglas F., Amos, Christopher I., Schildkraut, Joellen M., Ramus, Susan J., Ottini, Laura, Goodman, Marc T., Park-, Sue K., Kelemen, Linda E., Risch, Harvey A., Thomassen, Mads, Offit, Kenneth, Simard, Jacques, Schmutzler, Rita Katharina, Hazelett, Dennis, Monteiro, Alvaro N., Couch, Fergus J., Berchuck, Andrew, Chenevix-Trench, Georgia, Goode, Ellen L., Sellers, Thomas A., Gayther, Simon A., Antoniou, Antonis C., Pharoah, Paul D. P., Phelan, Catherine M., Kuchenbaecker, Karoline B., Tyrer, Jonathan P., Kar, Siddhartha P., Lawrenson, Kate, Winham, Stacey J., Dennis, Joe, Pirie, Ailith, Riggan, Marjorie J., Chornokur, Ganna, Earp, Madalene A., Lyra, Paulo C., Jr., Lee, Janet M., Coetzee, Simon, Beesley, Jonathan, McGuffog, Lesley, Soucy, Penny, Dicks, Ed, Lee, Andrew, Barrowdale, Daniel, Lecarpentier, Julie, Leslie, Goska, Aalfs, Cora M., Aben, Katja K. H., Adams, Marcia, Adlard, Julian, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia, Aravantinos, Gerasimos, Arnold, Norbert, Arun, Banu K., Arver, Brita, Azzollini, Jacopo, Balmana, Judith, Banerjee, Susana N., Barjhoux, Laure, Barkardottir, Rosa B., Bean, Yukie, Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q., Birrer, Michael J., Bjorge, Line, Black, Amanda, Blankstein, Kenneth, Blok, Marinus J., Bodelon, Clara, Bogdanova, Natalia, Bojesen, Anders, Bonanni, Bernardo, Borg, Ake, Bradbury, Angela R., Brenton, James D., Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Buecher, Bruno, Butzow, Ralf, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Cannioto, Rikki, Carney, Michael E., Cescon, Terence, Chan, Salina B., Chang-Claude, Jenny, Chanock, Stephen, Chen, Xiao Qing, Chiew, Yoke-Eng, Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Conner, Thomas, Cook, Linda S., Cook, Jackie, Cramer, Daniel W., Cunningham, Julie M., D'Aloisio, Aimee A., Daly, Mary B., Damiola, Francesca, Damirovna, Sakaeva Dina, Dansonka-Mieszkowska, Agnieszka, Dao, Fanny, Davidson, Rosemarie, DeFazio, Anna, Delnatte, Capucine, Doheny, Kimberly F., Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer Anne, Domchek, Susan M., Dorfling, Cecilia M., Dork, Thilo, Dossus, Laure, Duran, Mercedes, Durst, Matthias, Dworniczak, Bernd, Eccles, Diana, Edwards, Todd, Eeles, Ros, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B., Ellis, Steve, Elvira, Mingajeva, Eng, Kevin H., Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Ferguson, Sarah, Ferrer, Sandra Fert, Flanagan, James M., Fogarty, Zachary C., Fortner, Renee T., Fostira, Florentia, Foulkes, William D., Fountzilas, George, Fridley, Brooke L., Friebel, Tara M., Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Garcia, Maria J., Garcia-Barberan, Vanesa, Gehrig, Andrea, Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G., Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Goranova, Teodora, Gore, Martin, Greene, Mark H., Gronwald, Jacek, Gruber, Stephen, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hamann, Ute, Hansen, Thomas V. O., Harrington, Patricia A., Harris, Holly R., Hauke, Jan, Hein, Alexander, Henderson, Alex, Hildebrandt, Michelle A. T., Hillemanns, Peter, Hodgson, Shirley, Hogdall, Claus K., Hogdall, Estrid, Hogervorst, Frans B. L., Holland, Helene, Hooning, Maartje J., Hosking, Karen, Huang, Ruea-Yea, Hulick, Peter J., Hung, Jillian, Hunter, David J., Huntsman, David G., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Iversen, Edwin S., Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jernetz, Mats, Jensen, Allan, Jensen, Uffe Birk, John, Esther M., Johnatty, Sharon, Jones, Michael E., Kannisto, Paivi, Karlan, Beth Y., Karnezis, Anthony, Kast, Karin, Kennedy, Catherine J., Khusnutdinova, Elza, Kiemeney, Lambertus A., Kiiski, Johanna I., Kim, Sung-Won, Kjaer, Susanne K., Kobel, Martin, Kopperud, Reidun K., Kruse, Torben A., Kupryjanczyk, Jolanta, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Larranaga, Nerea, Larson, Melissa C., Lazaro, Conxi, Le, Nhu D., Le Marchand, Loic, Lee, Jong Won, Lele, Shashikant B., Leminen, Arto, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A., Liang, Dong, Liebrich, Clemens, Lilyquist, Jenna, Lipworth, Loren, Lissowska, Jolanta, Lu, Karen H., Lubinski, Jan, Luccarini, Craig, Lundvall, Lene, Mai, Phuong L., Mendoza-Fandino, Gustavo, Manoukian, Siranoush, Massuger, Leon F. A. G., May, Taymaa, Mazoyer, Sylvie, McAlpine, Jessica N., McGuire, Valerie, McLaughlin, John R., McNeish, Iain, Meijers-Heijboer, Hanne, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R., Merritt, Melissa A., Milne, Roger L., Mitchell, Gillian, Modugno, Francesmary, Moes-Sosnowska, Joanna, Moffitt, Melissa, Montagna, Marco, Moysich, Kirsten B., Mulligan, Anna Marie, Musinsky, Jacob, Nathanson, Katherine L., Nedergaard, Lotte, Ness, Roberta B., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L., Odunsi, Kunle, Olah, Edith, Olopade, Olufunmilayo I., Olsson, Hakan, Olswold, Curtis, O'Malley, David M., Ong, Kai-ren, Onland-Moret, N. Charlotte, Orr, Nicholas, Orsulic, Sandra, Osorio, Ana, Palli, Domenico, Papi, Laura, Park-Simon, Tjoung-Won, Paul, James, Pearce, Celeste L., Pedersen, Inge Sokilde, Peeters, Petra H. M., Peissel, Bernard, Peixoto, Ana, Pejovic, Tanja, Pelttari, Liisa M., Permuth, Jennifer B., Peterlongo, Paolo, Pezzani, Lidia, Pfeiler, Georg, Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C., Piskorz, Anna M., Poblete, Samantha R., Pocza, Timea, Poole, Elizabeth M., Poppe, Bruce, Porteous, Mary E., Prieur, Fabienne, Prokofyeva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pujol, Pascal, Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rhiem, Kerstin, Rice, Patricia, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C., Rodriguez-Antona, Cristina, Romm, Jane, Rookus, Matti A., Rossing, Mary Anne, Rothstein, Joseph H., Rudolph, Anja, Runnebaum, Ingo B., Salvesen, Helga B., Sandler, Dale P., Schoemaker, Minouk J., Senter, Leigha, Setiawan, V. Wendy, Severi, Gianluca, Sharma, Priyanka, Shelford, Tameka, Siddiqui, Nadeem, Side, Lucy E., Sieh, Weiva, Singer, Christian F., Sobol, Hagay, Song, Honglin, Southey, Melissa C., Spurdle, Amanda B., Stadler, Zsofia, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sucheston-Campbell, Lara E., Sukiennicki, Grzegorz, Sutphen, Rebecca, Sutter, Christian, Swerdlow, Anthony J., Szabo, Csilla I., Szafron, Lukasz, Tan, Yen Y., Taylor, Jack A., Tea, Muy-Kheng, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Kathryn L., Thompson, Pamela J., Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L., Tihomirova, Laima, Tinker, Anna V., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tone, Alicia, Trabert, Britton, Travis, Ruth C., Trichopoulou, Antonia, Tung, Nadine, Tworoger, Shelley S., Van Altena, Anne M., Van den Berg, David, van der Hout, Annemarie H., van der Luijt, Rob B., Van Heetvelde, Mattias, Van Nieuwenhuysen, Els, Van Rensburg, Elizabeth J., Vanderstichele, Adriaan, Varon-Mateeva, Raymonda, Vega, Ana, Edwards, Digna Velez, Vergote, Ignace, Vierkant, Robert A., Vijai, Joseph, Vratimos, Athanassios, Walker, Lisa, Walsh, Christine, Wand, Dorothea, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Webb, Penelope M., Weinberg, Clarice R., Weitzel, Jeffrey N., Wentzensen, Nicolas, Whittemore, Alice S., Wijnen, Juul T., Wilkens, Lynne R., Wolk, Alicja, Woo, Michelle, Wu, Xifeng, Wu, Anna H., Yang, Hannah, Yannoukakos, Drakoulis, Ziogas, Argyrios, Zorn, Kristin K., Narod, Steven A., Easton, Douglas F., Amos, Christopher I., Schildkraut, Joellen M., Ramus, Susan J., Ottini, Laura, Goodman, Marc T., Park-, Sue K., Kelemen, Linda E., Risch, Harvey A., Thomassen, Mads, Offit, Kenneth, Simard, Jacques, Schmutzler, Rita Katharina, Hazelett, Dennis, Monteiro, Alvaro N., Couch, Fergus J., Berchuck, Andrew, Chenevix-Trench, Georgia, Goode, Ellen L., Sellers, Thomas A., Gayther, Simon A., Antoniou, Antonis C., and Pharoah, Paul D. P.
Abstract: To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified three additional susceptibility loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.
Published: 2017

8. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Author: Milne, Roger L., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Beesley, Jonathan, Kar, Siddhartha, Lindstrom, Sara, Hui, Shirley, Lemacon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K., McGuffog, Lesley, Wang, Qin, Aalfs, Cora M., Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittomaki, Kristiina, Al-Ejeh, Fares, Allen, Jamie, Ambrosone, Christine B., Amos, Christopher I., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Auber, Bernd, Auer, Paul L., Ausems, Margreet G. E. M., Azzollini, Jacopo, Bacot, Francois, Balmana, Judith, Barile, Monica, Barjhoux, Laure, Barkardottir, Rosa B., Barrdahl, Myrto, Barnes, Daniel, Barrowdale, Daniel, Baynes, Caroline, Beckmann, Matthias W., Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Bignon, Yves-Jean, Blazer, Kathleen R., Blok, Marinus J., Blomqvist, Carl, Blot, William, Bobolis, Kristie, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Borresen-Dale, Anne-Lise, Bozsik, Aniko, Bradbury, Angela R., Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Bressac-de Paillerets, Brigitte, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Brunet, Joan, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Byun, Jinyoung, Cai, Qiuyin, Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D., Esteban Castelao, J., Castera, Laurent, Caux-Moncoutier, Virginie, Chan, Salina B., Chang-Claude, Jenny, Chanock, Stephen J., Chen, Xiaoqing, Cheng, Ting-Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen B. M., Clarke, Christine L., Conner, Thomas, Conroy, Don M., Cook, Jackie, Cordina-Duverger, Emilie, Cornelissen, Sten, Coupier, Isabelle, Cox, Angela, Cox, David G., Cross, Simon S., Cuk, Katarina, Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, Davidson, Rosemarie, De Leeneer, Kim, Devilee, Peter, Dicks, Ed, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Doheny, Kimberly F., Domchek, Susan M., Dorfling, Cecilia M., Doerk, Thilo, dos-Santos-Silva, Isabel, Dubois, Stephane, Dugue, Pierre-Antoine, Dumont, Martine, Dunning, Alison M., Durcan, Lorraine, Dwek, Miriam, Dworniczak, Bernd, Eccles, Diana, Eeles, Ros, Ehrencrona, Hans, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Faivre, Laurence, Fasching, Peter A., Faust, Ulrike, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foulkes, William D., Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gaddam, Pragna, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, Garcia-Saenz, Jose A., Gaudet, Mia M., Gauthier-Villars, Marion, Gehrig, Andrea, Georgoulias, Vassilios, Gerdes, Anne-Marie, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Goodfellow, Paul, Greene, Mark H., Alnaes, Grethe I. Grenaker, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Gschwantler-Kaulich, Daphne, Guenel, Pascal, Guo, Qi, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hallberg, Emily, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Hansen, Thomas V. O., Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Healey, Catherine S., Hein, Alexander, Helbig, Sonja, Henderson, Alex, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Hodgson, Shirley, Hogervorst, Frans B., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Bob, Hopper, John L., Hu, Chunling, Huang, Guanmengqian, Hulick, Peter J., Humphreys, Keith, Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Iwasaki, Motoki, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, Jensen, Uffe Birk, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kast, Karin, Keeman, Renske, Kerin, Michael J., Kets, Carolien M., Keupers, Machteld, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung-Won, Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela N., Kruse, Torben A., Kwong, Ava, Laenkholm, Anne-Vibeke, Laitman, Yael, Lalloo, Fiona, Lambrechts, Diether, Landsman, Keren, Lasset, Christine, Lazaro, Conxi, Le Marchand, Loic, Lecarpentier, Julie, Lee, Andrew, Lee, Eunjung, Lee, Jong Won, Lee, Min Hyuk, Lejbkowicz, Flavio, Lesueur, Fabienne, Li, Jingmei, Lilyquist, Jenna, Lincoln, Anne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Loud, Jennifer T., Lubinski, Jan, Luccarini, Craig, Lush, Michael, MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Malone, Kathleen E., Manoukian, Siranoush, Manson, JoAnn E., Margolin, Sara, Martens, John W. M., Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, Mazoyer, Sylvie, McLean, Catriona, Meijers-Heijboer, Hanne, Menendez, Primitiva, Meyer, Jeffery, Miao, Hui, Miller, Austin, Miller, Nicola, Mitchell, Gillian, Montagna, Marco, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Nadesan, Sue, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nevelsteen, Ines, Niederacher, Dieter, Nielsen, Sune F., Nordestgaard, Borge G., Norman, Aaron, Nussbaum, Robert L., Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olswold, Curtis, Ong, Kai-ren, Oosterwijk, Jan C., Orr, Nick, Osorio, Ana, Pankratz, V. Shane, Papi, Laura, Park-Simon, Tjoung-Won, Paulsson-Karlsson, Ylva, Lloyd, Rachel, Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Perez, Jose I. A., Peterlongo, Paolo, Peto, Julian, Pfeiler, Georg, Phelan, Catherine M., Pinchev, Mila, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Porteous, Mary E., Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pugh, Elizabeth, Angel Pujana, Miquel, Pylkas, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rennert, Hedy S., Rhenius, Valerie, Rhiem, Kerstin, Richardson, Andrea, Rodriguez, Gustavo C., Romero, Atocha, Romm, Jane, Rookus, Matti A., Rudolph, Anja, Ruediger, Thomas, Saloustros, Emmanouil, Sanders, Joyce, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schoemaker, Minouk J., Schumacher, Fredrick, Schuermann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J., Seal, Sheila, Senter, Leigha, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Xin, Shimelis, Hermela, Shrubsole, Martha J., Shu, Xiao-Ou, Side, Lucy E., Singer, Christian F., Sohn, Christof, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Surowy, Harald, Sutter, Christian, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla M., Tan, Yen Y., Taylor, Jack A., Tejada, Maria-Isabel, Tengstrom, Maria, Teo, Soo H., Terry, Mary B., Tessier, Daniel C., Teule, Alex, Thoene, Kathrin, Thull, Darcy L., Tibiletti, Maria Grazia, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A. E. M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Tranchant, Martine, Truong, Therese, Tucker, Kathy, Tung, Nadine, Tyrer, Jonathan, Ulmer, Hans-Ulrich, Vachon, Celine, van Asperen, Christi J., Van Den Berg, David, van den Ouweland, Ans M. W., van Rensburg, Elizabeth J., Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vincent, Daniel, Vollenweider, Jason, Walker, Lisa, Wang, Zhaoming, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wesseling, Jelle, Whittemore, Alice S., Wijnen, Juul T., Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zaffaroni, Daniela, Zheng, Wei, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Zorn, Kristin K., Gago-Dominguez, Manuela, Mannermaa, Arto, Olsson, Hakan, Teixeira, Manuel R., Stone, Jennifer, Offit, Kenneth, Ottini, Laura, Park, Sue K., Thomassen, Mads, Hall, Per, Meindl, Alfons, Schmutzler, Rita K., Droit, Arnaud, Bader, Gary D., Pharoah, Paul D. P., Couch, Fergus J., Easton, Douglas F., Kraft, Peter, Chenevix-Trench, Georgia, Garcia-Closas, Montserrat, Schmidt, Marjanka K., Antoniou, Antonis C., Simard, Jacques, Milne, Roger L., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Beesley, Jonathan, Kar, Siddhartha, Lindstrom, Sara, Hui, Shirley, Lemacon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K., McGuffog, Lesley, Wang, Qin, Aalfs, Cora M., Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittomaki, Kristiina, Al-Ejeh, Fares, Allen, Jamie, Ambrosone, Christine B., Amos, Christopher I., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Auber, Bernd, Auer, Paul L., Ausems, Margreet G. E. M., Azzollini, Jacopo, Bacot, Francois, Balmana, Judith, Barile, Monica, Barjhoux, Laure, Barkardottir, Rosa B., Barrdahl, Myrto, Barnes, Daniel, Barrowdale, Daniel, Baynes, Caroline, Beckmann, Matthias W., Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Bignon, Yves-Jean, Blazer, Kathleen R., Blok, Marinus J., Blomqvist, Carl, Blot, William, Bobolis, Kristie, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Borresen-Dale, Anne-Lise, Bozsik, Aniko, Bradbury, Angela R., Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Bressac-de Paillerets, Brigitte, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Brunet, Joan, Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Byun, Jinyoung, Cai, Qiuyin, Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D., Esteban Castelao, J., Castera, Laurent, Caux-Moncoutier, Virginie, Chan, Salina B., Chang-Claude, Jenny, Chanock, Stephen J., Chen, Xiaoqing, Cheng, Ting-Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen B. M., Clarke, Christine L., Conner, Thomas, Conroy, Don M., Cook, Jackie, Cordina-Duverger, Emilie, Cornelissen, Sten, Coupier, Isabelle, Cox, Angela, Cox, David G., Cross, Simon S., Cuk, Katarina, Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, Davidson, Rosemarie, De Leeneer, Kim, Devilee, Peter, Dicks, Ed, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Doheny, Kimberly F., Domchek, Susan M., Dorfling, Cecilia M., Doerk, Thilo, dos-Santos-Silva, Isabel, Dubois, Stephane, Dugue, Pierre-Antoine, Dumont, Martine, Dunning, Alison M., Durcan, Lorraine, Dwek, Miriam, Dworniczak, Bernd, Eccles, Diana, Eeles, Ros, Ehrencrona, Hans, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Faivre, Laurence, Fasching, Peter A., Faust, Ulrike, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foulkes, William D., Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gaddam, Pragna, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, Garcia-Saenz, Jose A., Gaudet, Mia M., Gauthier-Villars, Marion, Gehrig, Andrea, Georgoulias, Vassilios, Gerdes, Anne-Marie, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Goodfellow, Paul, Greene, Mark H., Alnaes, Grethe I. Grenaker, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Gschwantler-Kaulich, Daphne, Guenel, Pascal, Guo, Qi, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hallberg, Emily, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Hansen, Thomas V. O., Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Healey, Catherine S., Hein, Alexander, Helbig, Sonja, Henderson, Alex, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Hodgson, Shirley, Hogervorst, Frans B., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Bob, Hopper, John L., Hu, Chunling, Huang, Guanmengqian, Hulick, Peter J., Humphreys, Keith, Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Iwasaki, Motoki, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, Jensen, Uffe Birk, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kast, Karin, Keeman, Renske, Kerin, Michael J., Kets, Carolien M., Keupers, Machteld, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung-Won, Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela N., Kruse, Torben A., Kwong, Ava, Laenkholm, Anne-Vibeke, Laitman, Yael, Lalloo, Fiona, Lambrechts, Diether, Landsman, Keren, Lasset, Christine, Lazaro, Conxi, Le Marchand, Loic, Lecarpentier, Julie, Lee, Andrew, Lee, Eunjung, Lee, Jong Won, Lee, Min Hyuk, Lejbkowicz, Flavio, Lesueur, Fabienne, Li, Jingmei, Lilyquist, Jenna, Lincoln, Anne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Loud, Jennifer T., Lubinski, Jan, Luccarini, Craig, Lush, Michael, MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Malone, Kathleen E., Manoukian, Siranoush, Manson, JoAnn E., Margolin, Sara, Martens, John W. M., Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, Mazoyer, Sylvie, McLean, Catriona, Meijers-Heijboer, Hanne, Menendez, Primitiva, Meyer, Jeffery, Miao, Hui, Miller, Austin, Miller, Nicola, Mitchell, Gillian, Montagna, Marco, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Nadesan, Sue, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nevelsteen, Ines, Niederacher, Dieter, Nielsen, Sune F., Nordestgaard, Borge G., Norman, Aaron, Nussbaum, Robert L., Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olswold, Curtis, Ong, Kai-ren, Oosterwijk, Jan C., Orr, Nick, Osorio, Ana, Pankratz, V. Shane, Papi, Laura, Park-Simon, Tjoung-Won, Paulsson-Karlsson, Ylva, Lloyd, Rachel, Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Perez, Jose I. A., Peterlongo, Paolo, Peto, Julian, Pfeiler, Georg, Phelan, Catherine M., Pinchev, Mila, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Porteous, Mary E., Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pugh, Elizabeth, Angel Pujana, Miquel, Pylkas, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rennert, Hedy S., Rhenius, Valerie, Rhiem, Kerstin, Richardson, Andrea, Rodriguez, Gustavo C., Romero, Atocha, Romm, Jane, Rookus, Matti A., Rudolph, Anja, Ruediger, Thomas, Saloustros, Emmanouil, Sanders, Joyce, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schoemaker, Minouk J., Schumacher, Fredrick, Schuermann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J., Seal, Sheila, Senter, Leigha, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Xin, Shimelis, Hermela, Shrubsole, Martha J., Shu, Xiao-Ou, Side, Lucy E., Singer, Christian F., Sohn, Christof, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Surowy, Harald, Sutter, Christian, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla M., Tan, Yen Y., Taylor, Jack A., Tejada, Maria-Isabel, Tengstrom, Maria, Teo, Soo H., Terry, Mary B., Tessier, Daniel C., Teule, Alex, Thoene, Kathrin, Thull, Darcy L., Tibiletti, Maria Grazia, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A. E. M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Tranchant, Martine, Truong, Therese, Tucker, Kathy, Tung, Nadine, Tyrer, Jonathan, Ulmer, Hans-Ulrich, Vachon, Celine, van Asperen, Christi J., Van Den Berg, David, van den Ouweland, Ans M. W., van Rensburg, Elizabeth J., Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vincent, Daniel, Vollenweider, Jason, Walker, Lisa, Wang, Zhaoming, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wesseling, Jelle, Whittemore, Alice S., Wijnen, Juul T., Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zaffaroni, Daniela, Zheng, Wei, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Zorn, Kristin K., Gago-Dominguez, Manuela, Mannermaa, Arto, Olsson, Hakan, Teixeira, Manuel R., Stone, Jennifer, Offit, Kenneth, Ottini, Laura, Park, Sue K., Thomassen, Mads, Hall, Per, Meindl, Alfons, Schmutzler, Rita K., Droit, Arnaud, Bader, Gary D., Pharoah, Paul D. P., Couch, Fergus J., Easton, Douglas F., Kraft, Peter, Chenevix-Trench, Georgia, Garcia-Closas, Montserrat, Schmidt, Marjanka K., Antoniou, Antonis C., and Simard, Jacques
Abstract: Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease(1). We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 x 10(-8) with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.
Published: 2017

9. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Birk Jensen, Uffe, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Pilar Zamora, M., Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., Antoniou, Antonis C., Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Birk Jensen, Uffe, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Pilar Zamora, M., Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., and Antoniou, Antonis C.
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction., Funding Agencies|European Community Seventh Framework Programme [223175, HEALTH-F2-2009-223175]; Cancer Research UK [C1287/A10118, C1287/A10710, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C12292/A11174]; National Institutes of Health [CA116201, CA128978, CA176785, CA192393]; National Institutes of Health, Post-Cancer GWAS initiative [1U19 CA148537, 1U19 CA148065, 1U19 CA148112]; National Institutes of Health, GAME-ON initiative; Canadian Institutes of Health Research (CIHR); Breast Cancer Res. Foundation; Ovarian Cancer Research Fund; Department of Defence [W81XWH-10-1-0341]; Florida Breast Cancer Foundation
Published: 2016
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10. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen B M, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas V O, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, Herzog, Josef, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Humphreys, Keith, Hunter, David J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G, Knight, Julia A, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L, Makalic, Enes, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W M, McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Osorio, Ana, Park, Sue K, Peeters, Petra H, Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M, Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J, Sanchez, Maria-Jose, Santella, Regina M, Sawyer, Elinor J, Schmidt, Daniel F, Schmidt, Marjanka K, Schmutzler, Rita K, Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Sinilnikova, Olga M, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla, Tapper, William, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary B, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E, Tollenaar, Robert A E M, Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teulé, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H M, van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N, Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Yao, Song, Zamora, M Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D P, Monteiro, Alvaro A N, García-Closas, Montserrat, Easton, Douglas F, Antoniou, Antonis C, Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen B M, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas V O, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, Herzog, Josef, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Humphreys, Keith, Hunter, David J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G, Knight, Julia A, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L, Makalic, Enes, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W M, McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Osorio, Ana, Park, Sue K, Peeters, Petra H, Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M, Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J, Sanchez, Maria-Jose, Santella, Regina M, Sawyer, Elinor J, Schmidt, Daniel F, Schmidt, Marjanka K, Schmutzler, Rita K, Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Sinilnikova, Olga M, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla, Tapper, William, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary B, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E, Tollenaar, Robert A E M, Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teulé, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H M, van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N, Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Yao, Song, Zamora, M Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D P, Monteiro, Alvaro A N, García-Closas, Montserrat, Easton, Douglas F, and Antoniou, Antonis C
Published: 2016

11. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Author: University of Helsinki, Medicum, University of Helsinki, Clinicum, University of Helsinki, Department of Pathology, University of Helsinki, Department of Obstetrics and Gynecology, Lawrenson, Kate, Kar, Siddhartha, McCue, Karen, Kuchenbaeker, Karoline, Michailidou, Kyriaki, Tyrer, Jonathan, Beesley, Jonathan, Ramus, Susan J., Li, Qiyuan, Delgado, Melissa K., Lee, Janet M., Aittomäki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Bandera, Elisa V., Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Matthias W., Benitez, Javier, Berchuck, Andrew, Bisogna, Maria, Bjorge, Line, Blomqvist, Carl, Blot, William, Bogdanova, Natalia, Bojesen, Anders, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Bruinsma, Fiona, Brunet, Joan, Buhari, Shaik Ahmad, Burwinkel, Barbara, Butzow, Ralf, Buys, Saundra S., Cai, Qiuyin, Caldes, Trinidad, Campbell, Ian, Canniotto, Rikki, Chang-Claude, Jenny, Chiquette, Jocelyne, Choi, Ji-Yeob, Claes, Kathleen B. M., Cook, Linda S., Cox, Angela, Cramer, Daniel W., Cross, Simon S., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., Damiola, Francesca, Dansonka-Mieszkowska, Agnieszka, Darabi, Hatef, Dennis, Joe, Devilee, Peter, Diez, Orland, Doherty, Jennifer A., Domchek, Susan M., Dorfling, Cecilia M., Doerk, Thilo, Dumont, Martine, Ehrencrona, Hans, Ejlertsen, Bent, Ellis, Steve, Engel, Christoph, Lee, Eunjung, Evans, D. Gareth, Fasching, Peter A., Feliubadalo, Lidia, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foretova, Lenka, Fostira, Florentia, Foulkes, William D., Fridley, Brooke L., Friedman, Eitan, Frost, Debra, Gambino, Gaetana, Ganz, Patricia A., Garber, Judy, Garcia-Closas, Montserrat, Gentry-Maharaj, Aleksandra, Ghoussaini, Maya, Giles, Graham G., Glasspool, Rosalind, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Goode, Ellen L., Goodman, Marc T., Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Haiman, Christopher A., Hall, Per, Hallberg, Emily, Hamann, Ute, Hansen, Thomas V. O., Harrington, Patricia A., Hartman, Mikael, Hassan, Norhashimah, Healey, Sue, Heitz, Florian, Herzog, Josef, Hogdall, Estrid, Hogdall, Claus K., Hogervorst, Frans B. L., Hollestelle, Antoinette, Hopper, John L., Hulick, Peter J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Ito, Hidemi, Jakubowska, Anna, Janavicius, Ramunas, Jensen, Allan, John, Esther M., Johnson, Nichola, Kabisch, Maria, Kang, Daehee, Kapuscinski, Miroslav, Karlan, Beth Y., Khan, Sofia, Kiemeney, Lambertus A., Kjaer, Susanne Kruger, Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kupryjanczyk, Jolanta, Kwong, Ava, de la Hoya, Miguel, Laitman, Yael, Lambrechts, Diether, Le, Nhu, De Leeneer, Kim, Lester, Jenny, Levine, Douglas A., Li, Jingmei, Lindblom, Annika, Long, Jirong, Lophatananon, Artitaya, Loud, Jennifer T., Lu, Karen, Lubinski, Jan, Mannermaa, Arto, Manoukian, Siranoush, Le Marchand, Loic, Margolin, Sara, Marme, Frederik, Massuger, Leon F. A. G., Matsuo, Keitaro, Mazoyer, Sylvie, McGuffog, Lesley, McLean, Catriona, McNeish, Iain, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R., Milne, Roger L., Montagna, Marco, Moysich, Kirsten B., Muir, Kenneth, Mulligan, Anna Marie, Nathanson, Katherine L., Ness, Roberta B., Neuhausen, Susan L., Nevanlinna, Heli, Nord, Silje, Nussbaum, Robert L., Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olswold, Curtis, O'Malley, David, Orlow, Irene, Orr, Nick, Osorio, Ana, Park, Sue Kyung, Pearce, Celeste L., Pejovic, Tanja, Peterlongo, Paolo, Pfeiler, Georg, Phelan, Catherine M., Poole, Elizabeth M., Pylkas, Katri, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad Usman, Rennert, Gad, Rhenius, Valerie, Rhiem, Kerstin, Risch, Harvey A., Rodriguez, Gus, Rossing, Mary Anne, Rudolph, Anja, Salvesen, Helga B., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schildkraut, Joellen M., Schmidt, Marjanka K., Schmutzler, Rita K., Sellers, Thomas A., Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Sieh, Weiva, Singer, Christian F., Sinilnikova, Olga M., Slager, Susan, Song, Honglin, Soucy, Penny, Southey, Melissa C., Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Sutter, Christian, Swerdlow, Anthony, Tchatchou, Sandrine, Teixeira, Manuel R., Teo, Soo H., Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Tibiletti, Maria Grazia, Tihomirova, Laima, Tognazzo, Silvia, Toland, Amanda Ewart, Tomlinson, Ian, Torres, Diana, Truong, Therese, Tseng, Chiu-chen, Tung, Nadine, Tworoger, Shelley S., Vachon, Celine, van den Ouweland, Ans M. W., van Doorn, Helena C., van Rensburg, Elizabeth J., Van't Veer, Laura J., Vanderstichele, Adriaan, Vergote, Ignace, Vijai, Joseph, Wang, Qin, Wang-Gohrke, Shan, Weitzel, Jeffrey N., Wentzensen, Nicolas, Whittemore, Alice S., Wildiers, Hans, Winqvist, Robert, Wu, Anna H., Yannoukakos, Drakoulis, Yoon, Sook-Yee, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Khanna, Kum Kum, Simard, Jacques, Monteiro, Alvaro N., French, Juliet D., Couch, Fergus J., Freedman, Matthew L., Easton, Douglas F., Dunning, Alison M., Pharoah, Paul D., Edwards, Stacey L., Chenevix-Trench, Georgia, Antoniou, Antonis C., Gayther, Simon A., GEMO Study Collaborators, EMBRACE, Hereditary Breast & Ovarian Canc R, KConFab Investigators, Australian Ovarian Canc Study Grp, University of Helsinki, Medicum, University of Helsinki, Clinicum, University of Helsinki, Department of Pathology, University of Helsinki, Department of Obstetrics and Gynecology, Lawrenson, Kate, Kar, Siddhartha, McCue, Karen, Kuchenbaeker, Karoline, Michailidou, Kyriaki, Tyrer, Jonathan, Beesley, Jonathan, Ramus, Susan J., Li, Qiyuan, Delgado, Melissa K., Lee, Janet M., Aittomäki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Bandera, Elisa V., Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Matthias W., Benitez, Javier, Berchuck, Andrew, Bisogna, Maria, Bjorge, Line, Blomqvist, Carl, Blot, William, Bogdanova, Natalia, Bojesen, Anders, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Bruinsma, Fiona, Brunet, Joan, Buhari, Shaik Ahmad, Burwinkel, Barbara, Butzow, Ralf, Buys, Saundra S., Cai, Qiuyin, Caldes, Trinidad, Campbell, Ian, Canniotto, Rikki, Chang-Claude, Jenny, Chiquette, Jocelyne, Choi, Ji-Yeob, Claes, Kathleen B. M., Cook, Linda S., Cox, Angela, Cramer, Daniel W., Cross, Simon S., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., Damiola, Francesca, Dansonka-Mieszkowska, Agnieszka, Darabi, Hatef, Dennis, Joe, Devilee, Peter, Diez, Orland, Doherty, Jennifer A., Domchek, Susan M., Dorfling, Cecilia M., Doerk, Thilo, Dumont, Martine, Ehrencrona, Hans, Ejlertsen, Bent, Ellis, Steve, Engel, Christoph, Lee, Eunjung, Evans, D. Gareth, Fasching, Peter A., Feliubadalo, Lidia, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foretova, Lenka, Fostira, Florentia, Foulkes, William D., Fridley, Brooke L., Friedman, Eitan, Frost, Debra, Gambino, Gaetana, Ganz, Patricia A., Garber, Judy, Garcia-Closas, Montserrat, Gentry-Maharaj, Aleksandra, Ghoussaini, Maya, Giles, Graham G., Glasspool, Rosalind, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Goode, Ellen L., Goodman, Marc T., Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Haiman, Christopher A., Hall, Per, Hallberg, Emily, Hamann, Ute, Hansen, Thomas V. O., Harrington, Patricia A., Hartman, Mikael, Hassan, Norhashimah, Healey, Sue, Heitz, Florian, Herzog, Josef, Hogdall, Estrid, Hogdall, Claus K., Hogervorst, Frans B. L., Hollestelle, Antoinette, Hopper, John L., Hulick, Peter J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Ito, Hidemi, Jakubowska, Anna, Janavicius, Ramunas, Jensen, Allan, John, Esther M., Johnson, Nichola, Kabisch, Maria, Kang, Daehee, Kapuscinski, Miroslav, Karlan, Beth Y., Khan, Sofia, Kiemeney, Lambertus A., Kjaer, Susanne Kruger, Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kupryjanczyk, Jolanta, Kwong, Ava, de la Hoya, Miguel, Laitman, Yael, Lambrechts, Diether, Le, Nhu, De Leeneer, Kim, Lester, Jenny, Levine, Douglas A., Li, Jingmei, Lindblom, Annika, Long, Jirong, Lophatananon, Artitaya, Loud, Jennifer T., Lu, Karen, Lubinski, Jan, Mannermaa, Arto, Manoukian, Siranoush, Le Marchand, Loic, Margolin, Sara, Marme, Frederik, Massuger, Leon F. A. G., Matsuo, Keitaro, Mazoyer, Sylvie, McGuffog, Lesley, McLean, Catriona, McNeish, Iain, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R., Milne, Roger L., Montagna, Marco, Moysich, Kirsten B., Muir, Kenneth, Mulligan, Anna Marie, Nathanson, Katherine L., Ness, Roberta B., Neuhausen, Susan L., Nevanlinna, Heli, Nord, Silje, Nussbaum, Robert L., Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olswold, Curtis, O'Malley, David, Orlow, Irene, Orr, Nick, Osorio, Ana, Park, Sue Kyung, Pearce, Celeste L., Pejovic, Tanja, Peterlongo, Paolo, Pfeiler, Georg, Phelan, Catherine M., Poole, Elizabeth M., Pylkas, Katri, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad Usman, Rennert, Gad, Rhenius, Valerie, Rhiem, Kerstin, Risch, Harvey A., Rodriguez, Gus, Rossing, Mary Anne, Rudolph, Anja, Salvesen, Helga B., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schildkraut, Joellen M., Schmidt, Marjanka K., Schmutzler, Rita K., Sellers, Thomas A., Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Sieh, Weiva, Singer, Christian F., Sinilnikova, Olga M., Slager, Susan, Song, Honglin, Soucy, Penny, Southey, Melissa C., Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Sutter, Christian, Swerdlow, Anthony, Tchatchou, Sandrine, Teixeira, Manuel R., Teo, Soo H., Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Tibiletti, Maria Grazia, Tihomirova, Laima, Tognazzo, Silvia, Toland, Amanda Ewart, Tomlinson, Ian, Torres, Diana, Truong, Therese, Tseng, Chiu-chen, Tung, Nadine, Tworoger, Shelley S., Vachon, Celine, van den Ouweland, Ans M. W., van Doorn, Helena C., van Rensburg, Elizabeth J., Van't Veer, Laura J., Vanderstichele, Adriaan, Vergote, Ignace, Vijai, Joseph, Wang, Qin, Wang-Gohrke, Shan, Weitzel, Jeffrey N., Wentzensen, Nicolas, Whittemore, Alice S., Wildiers, Hans, Winqvist, Robert, Wu, Anna H., Yannoukakos, Drakoulis, Yoon, Sook-Yee, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Khanna, Kum Kum, Simard, Jacques, Monteiro, Alvaro N., French, Juliet D., Couch, Fergus J., Freedman, Matthew L., Easton, Douglas F., Dunning, Alison M., Pharoah, Paul D., Edwards, Stacey L., Chenevix-Trench, Georgia, Antoniou, Antonis C., Gayther, Simon A., GEMO Study Collaborators, EMBRACE, Hereditary Breast & Ovarian Canc R, KConFab Investigators, and Australian Ovarian Canc Study Grp
Abstract: A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P = 9.2 x 10(-20)), ER-negative BC (P = 1.1 x 10(-13)), BRCA1-associated BC (P = 7.7 x 10(-16)) and triple negative BC (P-diff = 2 x 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P = 2 x 10(-3)) and ABHD8 (P
Published: 2016

12. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: University of Helsinki, Medicum, University of Helsinki, Clinicum, University of Helsinki, Research Programs Unit, University of Helsinki, Department of Obstetrics and Gynecology, University of Helsinki, Institute for Molecular Medicine Finland (FIMM), Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., Antoniou, Antonis C., University of Helsinki, Medicum, University of Helsinki, Clinicum, University of Helsinki, Research Programs Unit, University of Helsinki, Department of Obstetrics and Gynecology, University of Helsinki, Institute for Molecular Medicine Finland (FIMM), Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., and Antoniou, Antonis C.
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P
Published: 2016

13. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

Author: Dunning, Alison M., Michailidou, Kyriaki, Kuchenbaecker, Karoline B., Thompson, Deborah, French, Juliet D., Beesley, Jonathan, Healey, Catherine S., Kar, Siddhartha, Pooley, Karen A., Lopez-Knowles, Elena, Dicks, Ed, Barrowdale, Daniel, Sinnott-Armstrong, Nicholas A., Sallari, Richard C., Hillman, Kristine M., Kaufmann, Susanne, Sivakumaran, Haran, Marjaneh, Mahdi Moradi, Lee, Jason S., Hills, Margaret, Jarosz, Monika, Drury, Suzie, Canisius, Sander, Bolla, Manjeet K., Dennis, Joe, Wang, Qin, Hopper, John L., Southey, Melissa C., Broeks, Annegien, Schmidt, Marjanka K., Lophatananon, Artitaya, Muir, Kenneth, Beckmann, Matthias W., Fasching, Peter A., dos-Santos-Silva, Isabel, Peto, Julian, Sawyer, Elinor J., Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guenel, Pascal, Truong, Therese, Bojesen, Stig E., Flyger, Henrik, Gonzalez-Neira, Anna, Perez, Jose I. A., Anton-Culver, Hoda, Eunjung, Lee, Arndt, Volker, Brenner, Hermann, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Hamann, Ute, Aittomaki, Kristiina, Blomqvist, Carl, Ito, Hidemi, Matsuo, Keitaro, Bogdanova, Natasha, Dork, Thilo, Lindblom, Annika, Margolin, Sara, Kosma, Veli-Matti, Mannermaa, Arto, Tseng, Chiu-chen, Wu, Anna H., Lambrechts, Diether, Wildiers, Hans, Chang-Claude, Jenny, Rudolph, Anja, Peterlongo, Paolo, Radice, Paolo, Olson, Janet E., Giles, Graham G., Milne, Roger L., Haiman, Christopher A., Henderson, Brian E., Goldberg, Mark S., Teo, Soo H., Yip, Cheng Har, Nord, Silje, Borresen-Dale, Anne-Lise, Kristensen, Vessela, Long, Jirong, Zheng, Wei, Pylkas, Katri, Winqvist, Robert, Andrulis, Irene L., Knight, Julia A., Devilee, Peter, Seynaeve, Caroline, Figueroa, Jonine, Sherman, Mark E., Czene, Kamila, Darabi, Hatef, Hollestelle, Antoinette, van den Ouweland, Ans M. W., Humphreys, Keith, Gao, Yu-Tang, Shu, Xiao-Ou, Cox, Angela, Cross, Simon S., Blot, William, Cai, Qiuyin, Ghoussaini, Maya, Perkins, Barbara J., Shah, Mitul, Choi, Ji-Yeob, Kang, Daehee, Lee, Soo Chin, Hartman, Mikael, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Brennan, Paul, Sangrajrang, Suleeporn, Ambrosone, Christine B., Toland, Amanda E., Shen, Chen-Yang, Wu, Pei-Ei, Orr, Nick, Swerdlow, Anthony, McGuffog, Lesley, Healey, Sue, Lee, Andrew, Kapuscinski, Miroslav, John, Esther M., Terry, Mary Beth, Daly, Mary B., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Neuhausen, Susan L., Ejlertsen, Bent, Hansen, Thomas V. O., Osorio, Ana, Benitez, Javier, Rando, Rachel, Weitzel, Jeffrey N., Bonanni, Bernardo, Peissel, Bernard, Manoukian, Siranoush, Papi, Laura, Ottini, Laura, Konstantopoulou, Irene, Apostolou, Paraskevi, Garber, Judy, Rashid, Muhammad Usman, Frost, Debra, Izatt, Louise, Ellis, Steve, Godwin, Andrew K., Arnold, Norbert, Niederacher, Dieter, Rhiem, Kerstin, Bogdanova-Markov, Nadja, Sagne, Charlotte, Stoppa-Lyonnet, Dominique, Damiola, Francesca, Sinilnikova, Olga M., Mazoyer, Sylvie, Isaacs, Claudine, Claes, Kathleen B. M., De Leeneer, Kim, De la Hoya, Miguel, Caldes, Trinidad, Nevanlinna, Heli, Khan, Sofia, Mensenkamp, Arjen R., Hooning, Maartje J., Rookus, Matti A., Kwong, Ava, Olah, Edith, Diez, Orland, Brunet, Joan, Pujana, Miquel Angel, Gronwald, Jacek, Huzarski, Tomasz, Barkardottir, Rosa B., Laframboise, Rachel, Soucy, Penny, Montagna, Marco, Agata, Simona, Teixeira, Manuel R., Park, Sue Kyung, Lindor, Noralane, Couch, Fergus J., Tischkowitz, Marc, Foretova, Lenka, Vijai, Joseph, Offit, Kenneth, Singer, Christian F., Rappaport, Christine, Phelan, Catherine M., Greene, Mark H., Mai, Phuong L., Rennert, Gad, Imyanitov, Evgeny N., Hulick, Peter J., Phillips, Kelly-Anne, Piedmonte, Marion, Mulligan, Anna Marie, Glendon, Gord, Bojesen, Anders, Thomassen, Mads, Caligo, Maria A., Yoon, Sook-Yee, Friedman, Eitan, Laitman, Yael, Borg, Ake, Von Wachenfeldt, Anna, Ehrencrona, Hans, Rantala, Johanna, Olopade, Olufunmilayo I., Ganz, Patricia A., Nussbaum, Robert L., Gayther, Simon A., Nathanson, Katherine L., Domchek, Susan M., Arun, Banu K., Mitchell, Gillian, Karlan, Beth Y., Lester, Jenny, Maskarinec, Gertraud, Woolcott, Christy, Scott, Christopher, Stone, Jennifer, Apicella, Carmel, Tamimi, Rulla, Luben, Robert, Khaw, Kay-Tee, Helland, Aslaug, Haakensen, Vilde, Dowsett, Mitch, Pharoah, Paul D. P., Simard, Jacques, Hall, Per, Garcia-Closas, Montserrat, Vachon, Celine, Chenevix-Trench, Georgia, Antoniou, Antonis C., Easton, Douglas F., Edwards, Stacey L., Dunning, Alison M., Michailidou, Kyriaki, Kuchenbaecker, Karoline B., Thompson, Deborah, French, Juliet D., Beesley, Jonathan, Healey, Catherine S., Kar, Siddhartha, Pooley, Karen A., Lopez-Knowles, Elena, Dicks, Ed, Barrowdale, Daniel, Sinnott-Armstrong, Nicholas A., Sallari, Richard C., Hillman, Kristine M., Kaufmann, Susanne, Sivakumaran, Haran, Marjaneh, Mahdi Moradi, Lee, Jason S., Hills, Margaret, Jarosz, Monika, Drury, Suzie, Canisius, Sander, Bolla, Manjeet K., Dennis, Joe, Wang, Qin, Hopper, John L., Southey, Melissa C., Broeks, Annegien, Schmidt, Marjanka K., Lophatananon, Artitaya, Muir, Kenneth, Beckmann, Matthias W., Fasching, Peter A., dos-Santos-Silva, Isabel, Peto, Julian, Sawyer, Elinor J., Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guenel, Pascal, Truong, Therese, Bojesen, Stig E., Flyger, Henrik, Gonzalez-Neira, Anna, Perez, Jose I. A., Anton-Culver, Hoda, Eunjung, Lee, Arndt, Volker, Brenner, Hermann, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Hamann, Ute, Aittomaki, Kristiina, Blomqvist, Carl, Ito, Hidemi, Matsuo, Keitaro, Bogdanova, Natasha, Dork, Thilo, Lindblom, Annika, Margolin, Sara, Kosma, Veli-Matti, Mannermaa, Arto, Tseng, Chiu-chen, Wu, Anna H., Lambrechts, Diether, Wildiers, Hans, Chang-Claude, Jenny, Rudolph, Anja, Peterlongo, Paolo, Radice, Paolo, Olson, Janet E., Giles, Graham G., Milne, Roger L., Haiman, Christopher A., Henderson, Brian E., Goldberg, Mark S., Teo, Soo H., Yip, Cheng Har, Nord, Silje, Borresen-Dale, Anne-Lise, Kristensen, Vessela, Long, Jirong, Zheng, Wei, Pylkas, Katri, Winqvist, Robert, Andrulis, Irene L., Knight, Julia A., Devilee, Peter, Seynaeve, Caroline, Figueroa, Jonine, Sherman, Mark E., Czene, Kamila, Darabi, Hatef, Hollestelle, Antoinette, van den Ouweland, Ans M. W., Humphreys, Keith, Gao, Yu-Tang, Shu, Xiao-Ou, Cox, Angela, Cross, Simon S., Blot, William, Cai, Qiuyin, Ghoussaini, Maya, Perkins, Barbara J., Shah, Mitul, Choi, Ji-Yeob, Kang, Daehee, Lee, Soo Chin, Hartman, Mikael, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Brennan, Paul, Sangrajrang, Suleeporn, Ambrosone, Christine B., Toland, Amanda E., Shen, Chen-Yang, Wu, Pei-Ei, Orr, Nick, Swerdlow, Anthony, McGuffog, Lesley, Healey, Sue, Lee, Andrew, Kapuscinski, Miroslav, John, Esther M., Terry, Mary Beth, Daly, Mary B., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Neuhausen, Susan L., Ejlertsen, Bent, Hansen, Thomas V. O., Osorio, Ana, Benitez, Javier, Rando, Rachel, Weitzel, Jeffrey N., Bonanni, Bernardo, Peissel, Bernard, Manoukian, Siranoush, Papi, Laura, Ottini, Laura, Konstantopoulou, Irene, Apostolou, Paraskevi, Garber, Judy, Rashid, Muhammad Usman, Frost, Debra, Izatt, Louise, Ellis, Steve, Godwin, Andrew K., Arnold, Norbert, Niederacher, Dieter, Rhiem, Kerstin, Bogdanova-Markov, Nadja, Sagne, Charlotte, Stoppa-Lyonnet, Dominique, Damiola, Francesca, Sinilnikova, Olga M., Mazoyer, Sylvie, Isaacs, Claudine, Claes, Kathleen B. M., De Leeneer, Kim, De la Hoya, Miguel, Caldes, Trinidad, Nevanlinna, Heli, Khan, Sofia, Mensenkamp, Arjen R., Hooning, Maartje J., Rookus, Matti A., Kwong, Ava, Olah, Edith, Diez, Orland, Brunet, Joan, Pujana, Miquel Angel, Gronwald, Jacek, Huzarski, Tomasz, Barkardottir, Rosa B., Laframboise, Rachel, Soucy, Penny, Montagna, Marco, Agata, Simona, Teixeira, Manuel R., Park, Sue Kyung, Lindor, Noralane, Couch, Fergus J., Tischkowitz, Marc, Foretova, Lenka, Vijai, Joseph, Offit, Kenneth, Singer, Christian F., Rappaport, Christine, Phelan, Catherine M., Greene, Mark H., Mai, Phuong L., Rennert, Gad, Imyanitov, Evgeny N., Hulick, Peter J., Phillips, Kelly-Anne, Piedmonte, Marion, Mulligan, Anna Marie, Glendon, Gord, Bojesen, Anders, Thomassen, Mads, Caligo, Maria A., Yoon, Sook-Yee, Friedman, Eitan, Laitman, Yael, Borg, Ake, Von Wachenfeldt, Anna, Ehrencrona, Hans, Rantala, Johanna, Olopade, Olufunmilayo I., Ganz, Patricia A., Nussbaum, Robert L., Gayther, Simon A., Nathanson, Katherine L., Domchek, Susan M., Arun, Banu K., Mitchell, Gillian, Karlan, Beth Y., Lester, Jenny, Maskarinec, Gertraud, Woolcott, Christy, Scott, Christopher, Stone, Jennifer, Apicella, Carmel, Tamimi, Rulla, Luben, Robert, Khaw, Kay-Tee, Helland, Aslaug, Haakensen, Vilde, Dowsett, Mitch, Pharoah, Paul D. P., Simard, Jacques, Hall, Per, Garcia-Closas, Montserrat, Vachon, Celine, Chenevix-Trench, Georgia, Antoniou, Antonis C., Easton, Douglas F., and Edwards, Stacey L.
Abstract: We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor a) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER+ or ER-) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER-tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression.
Published: 2016

14. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Epi Kanker Team 1, JC onderzoeksprogramma Kanker, Cancer, Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen B M, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas V O, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, Herzog, Josef, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Humphreys, Keith, Hunter, David J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G, Knight, Julia A, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L, Makalic, Enes, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W M, McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Osorio, Ana, Park, Sue K, Peeters, Petra H, Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M, Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J, Sanchez, Maria-Jose, Santella, Regina M, Sawyer, Elinor J, Schmidt, Daniel F, Schmidt, Marjanka K, Schmutzler, Rita K, Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Sinilnikova, Olga M, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla, Tapper, William, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary B, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E, Tollenaar, Robert A E M, Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teulé, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H M, van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N, Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Yao, Song, Zamora, M Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D P, Monteiro, Alvaro A N, García-Closas, Montserrat, Easton, Douglas F, Antoniou, Antonis C, Epi Kanker Team 1, JC onderzoeksprogramma Kanker, Cancer, Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen B M, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas V O, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, Herzog, Josef, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Humphreys, Keith, Hunter, David J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G, Knight, Julia A, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L, Makalic, Enes, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W M, McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Osorio, Ana, Park, Sue K, Peeters, Petra H, Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M, Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J, Sanchez, Maria-Jose, Santella, Regina M, Sawyer, Elinor J, Schmidt, Daniel F, Schmidt, Marjanka K, Schmutzler, Rita K, Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Sinilnikova, Olga M, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla, Tapper, William, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary B, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E, Tollenaar, Robert A E M, Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teulé, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H M, van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N, Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Yao, Song, Zamora, M Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D P, Monteiro, Alvaro A N, García-Closas, Montserrat, Easton, Douglas F, and Antoniou, Antonis C
Published: 2016

15. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Author: Lawrenson, Kate, Kar, Siddhartha, McCue, Karen, Kuchenbaeker, Karoline, Michailidou, Kyriaki, Tyrer, Jonathan, Beesley, Jonathan, Ramus, Susan J., Li, Qiyuan, Delgado, Melissa K., Lee, Janet M., Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Bandera, Elisa V., Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Matthias W., Benitez, Javier, Berchuck, Andrew, Bisogna, Maria, Bjorge, Line, Blomqvist, Carl, Blot, William, Bogdanova, Natalia, Bojesen, Anders, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Bruinsma, Fiona, Brunet, Joan, Buhari, Shaik Ahmad, Burwinkel, Barbara, Butzow, Ralf, Buys, Saundra S., Cai, Qiuyin, Caldes, Trinidad, Campbell, Ian, Canniotto, Rikki, Chang-Claude, Jenny, Chiquette, Jocelyne, Choi, Ji-Yeob, Claes, Kathleen B. M., Cook, Linda S., Cox, Angela, Cramer, Daniel W., Cross, Simon S., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., Damiola, Francesca, Dansonka-Mieszkowska, Agnieszka, Darabi, Hatef, Dennis, Joe, Devilee, Peter, Diez, Orland, Doherty, Jennifer A., Domchek, Susan M., Dorfling, Cecilia M., Doerk, Thilo, Dumont, Martine, Ehrencrona, Hans, Ejlertsen, Bent, Ellis, Steve, Engel, Christoph, Lee, Eunjung, Evans, D. Gareth, Fasching, Peter A., Feliubadalo, Lidia, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foretova, Lenka, Fostira, Florentia, Foulkes, William D., Fridley, Brooke L., Friedman, Eitan, Frost, Debra, Gambino, Gaetana, Ganz, Patricia A., Garber, Judy, Garcia-Closas, Montserrat, Gentry-Maharaj, Aleksandra, Ghoussaini, Maya, Giles, Graham G., Glasspool, Rosalind, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Goode, Ellen L., Goodman, Marc T., Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Haiman, Christopher A., Hall, Per, Hallberg, Emily, Hamann, Ute, Hansen, Thomas V. O., Harrington, Patricia A., Hartman, Mikael, Hassan, Norhashimah, Healey, Sue, Heitz, Florian, Herzog, Josef, Hogdall, Estrid, Hogdall, Claus K., Hogervorst, Frans B. L., Hollestelle, Antoinette, Hopper, John L., Hulick, Peter J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Ito, Hidemi, Jakubowska, Anna, Janavicius, Ramunas, Jensen, Allan, John, Esther M., Johnson, Nichola, Kabisch, Maria, Kang, Daehee, Kapuscinski, Miroslav, Karlan, Beth Y., Khan, Sofia, Kiemeney, Lambertus A., Kjaer, Susanne Kruger, Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kupryjanczyk, Jolanta, Kwong, Ava, de la Hoya, Miguel, Laitman, Yael, Lambrechts, Diether, Le, Nhu, De Leeneer, Kim, Lester, Jenny, Levine, Douglas A., Li, Jingmei, Lindblom, Annika, Long, Jirong, Lophatananon, Artitaya, Loud, Jennifer T., Lu, Karen, Lubinski, Jan, Mannermaa, Arto, Manoukian, Siranoush, Le Marchand, Loic, Margolin, Sara, Marme, Frederik, Massuger, Leon F. A. G., Matsuo, Keitaro, Mazoyer, Sylvie, McGuffog, Lesley, McLean, Catriona, McNeish, Iain, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R., Milne, Roger L., Montagna, Marco, Moysich, Kirsten B., Muir, Kenneth, Mulligan, Anna Marie, Nathanson, Katherine L., Ness, Roberta B., Neuhausen, Susan L., Nevanlinna, Heli, Nord, Silje, Nussbaum, Robert L., Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olswold, Curtis, O'Malley, David, Orlow, Irene, Orr, Nick, Osorio, Ana, Park, Sue Kyung, Pearce, Celeste L., Pejovic, Tanja, Peterlongo, Paolo, Pfeiler, Georg, Phelan, Catherine M., Poole, Elizabeth M., Pylkas, Katri, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad Usman, Rennert, Gad, Rhenius, Valerie, Rhiem, Kerstin, Risch, Harvey A., Rodriguez, Gus, Rossing, Mary Anne, Rudolph, Anja, Salvesen, Helga B., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schildkraut, Joellen M., Schmidt, Marjanka K., Schmutzler, Rita K., Sellers, Thomas A., Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Sieh, Weiva, Singer, Christian F., Sinilnikova, Olga M., Slager, Susan, Song, Honglin, Soucy, Penny, Southey, Melissa C., Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Sutter, Christian, Swerdlow, Anthony, Tchatchou, Sandrine, Teixeira, Manuel R., Teo, Soo H., Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Tibiletti, Maria Grazia, Tihomirova, Laima, Tognazzo, Silvia, Toland, Amanda Ewart, Tomlinson, Ian, Torres, Diana, Truong, Therese, Tseng, Chiu-chen, Tung, Nadine, Tworoger, Shelley S., Vachon, Celine, van den Ouweland, Ans M. W., van Doorn, Helena C., van Rensburg, Elizabeth J., Van't Veer, Laura J., Vanderstichele, Adriaan, Vergote, Ignace, Vijai, Joseph, Wang, Qin, Wang-Gohrke, Shan, Weitzel, Jeffrey N., Wentzensen, Nicolas, Whittemore, Alice S., Wildiers, Hans, Winqvist, Robert, Wu, Anna H., Yannoukakos, Drakoulis, Yoon, Sook-Yee, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Khanna, Kum Kum, Simard, Jacques, Monteiro, Alvaro N., French, Juliet D., Couch, Fergus J., Freedman, Matthew L., Easton, Douglas F., Dunning, Alison M., Pharoah, Paul D., Edwards, Stacey L., Chenevix-Trench, Georgia, Antoniou, Antonis C., Gayther, Simon A., Lawrenson, Kate, Kar, Siddhartha, McCue, Karen, Kuchenbaeker, Karoline, Michailidou, Kyriaki, Tyrer, Jonathan, Beesley, Jonathan, Ramus, Susan J., Li, Qiyuan, Delgado, Melissa K., Lee, Janet M., Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Bandera, Elisa V., Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Matthias W., Benitez, Javier, Berchuck, Andrew, Bisogna, Maria, Bjorge, Line, Blomqvist, Carl, Blot, William, Bogdanova, Natalia, Bojesen, Anders, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Bruinsma, Fiona, Brunet, Joan, Buhari, Shaik Ahmad, Burwinkel, Barbara, Butzow, Ralf, Buys, Saundra S., Cai, Qiuyin, Caldes, Trinidad, Campbell, Ian, Canniotto, Rikki, Chang-Claude, Jenny, Chiquette, Jocelyne, Choi, Ji-Yeob, Claes, Kathleen B. M., Cook, Linda S., Cox, Angela, Cramer, Daniel W., Cross, Simon S., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., Damiola, Francesca, Dansonka-Mieszkowska, Agnieszka, Darabi, Hatef, Dennis, Joe, Devilee, Peter, Diez, Orland, Doherty, Jennifer A., Domchek, Susan M., Dorfling, Cecilia M., Doerk, Thilo, Dumont, Martine, Ehrencrona, Hans, Ejlertsen, Bent, Ellis, Steve, Engel, Christoph, Lee, Eunjung, Evans, D. Gareth, Fasching, Peter A., Feliubadalo, Lidia, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foretova, Lenka, Fostira, Florentia, Foulkes, William D., Fridley, Brooke L., Friedman, Eitan, Frost, Debra, Gambino, Gaetana, Ganz, Patricia A., Garber, Judy, Garcia-Closas, Montserrat, Gentry-Maharaj, Aleksandra, Ghoussaini, Maya, Giles, Graham G., Glasspool, Rosalind, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Goode, Ellen L., Goodman, Marc T., Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Haiman, Christopher A., Hall, Per, Hallberg, Emily, Hamann, Ute, Hansen, Thomas V. O., Harrington, Patricia A., Hartman, Mikael, Hassan, Norhashimah, Healey, Sue, Heitz, Florian, Herzog, Josef, Hogdall, Estrid, Hogdall, Claus K., Hogervorst, Frans B. L., Hollestelle, Antoinette, Hopper, John L., Hulick, Peter J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Ito, Hidemi, Jakubowska, Anna, Janavicius, Ramunas, Jensen, Allan, John, Esther M., Johnson, Nichola, Kabisch, Maria, Kang, Daehee, Kapuscinski, Miroslav, Karlan, Beth Y., Khan, Sofia, Kiemeney, Lambertus A., Kjaer, Susanne Kruger, Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kupryjanczyk, Jolanta, Kwong, Ava, de la Hoya, Miguel, Laitman, Yael, Lambrechts, Diether, Le, Nhu, De Leeneer, Kim, Lester, Jenny, Levine, Douglas A., Li, Jingmei, Lindblom, Annika, Long, Jirong, Lophatananon, Artitaya, Loud, Jennifer T., Lu, Karen, Lubinski, Jan, Mannermaa, Arto, Manoukian, Siranoush, Le Marchand, Loic, Margolin, Sara, Marme, Frederik, Massuger, Leon F. A. G., Matsuo, Keitaro, Mazoyer, Sylvie, McGuffog, Lesley, McLean, Catriona, McNeish, Iain, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R., Milne, Roger L., Montagna, Marco, Moysich, Kirsten B., Muir, Kenneth, Mulligan, Anna Marie, Nathanson, Katherine L., Ness, Roberta B., Neuhausen, Susan L., Nevanlinna, Heli, Nord, Silje, Nussbaum, Robert L., Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olswold, Curtis, O'Malley, David, Orlow, Irene, Orr, Nick, Osorio, Ana, Park, Sue Kyung, Pearce, Celeste L., Pejovic, Tanja, Peterlongo, Paolo, Pfeiler, Georg, Phelan, Catherine M., Poole, Elizabeth M., Pylkas, Katri, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad Usman, Rennert, Gad, Rhenius, Valerie, Rhiem, Kerstin, Risch, Harvey A., Rodriguez, Gus, Rossing, Mary Anne, Rudolph, Anja, Salvesen, Helga B., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schildkraut, Joellen M., Schmidt, Marjanka K., Schmutzler, Rita K., Sellers, Thomas A., Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Sieh, Weiva, Singer, Christian F., Sinilnikova, Olga M., Slager, Susan, Song, Honglin, Soucy, Penny, Southey, Melissa C., Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Sutter, Christian, Swerdlow, Anthony, Tchatchou, Sandrine, Teixeira, Manuel R., Teo, Soo H., Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Tibiletti, Maria Grazia, Tihomirova, Laima, Tognazzo, Silvia, Toland, Amanda Ewart, Tomlinson, Ian, Torres, Diana, Truong, Therese, Tseng, Chiu-chen, Tung, Nadine, Tworoger, Shelley S., Vachon, Celine, van den Ouweland, Ans M. W., van Doorn, Helena C., van Rensburg, Elizabeth J., Van't Veer, Laura J., Vanderstichele, Adriaan, Vergote, Ignace, Vijai, Joseph, Wang, Qin, Wang-Gohrke, Shan, Weitzel, Jeffrey N., Wentzensen, Nicolas, Whittemore, Alice S., Wildiers, Hans, Winqvist, Robert, Wu, Anna H., Yannoukakos, Drakoulis, Yoon, Sook-Yee, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Khanna, Kum Kum, Simard, Jacques, Monteiro, Alvaro N., French, Juliet D., Couch, Fergus J., Freedman, Matthew L., Easton, Douglas F., Dunning, Alison M., Pharoah, Paul D., Edwards, Stacey L., Chenevix-Trench, Georgia, Antoniou, Antonis C., and Gayther, Simon A.
Abstract: A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P = 9.2 x 10(-20)), ER-negative BC (P = 1.1 x 10(-13)), BRCA1-associated BC (P = 7.7 x 10(-16)) and triple negative BC (P-diff = 2 x 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P = 2 x 10(-3)) and ABHD8 (P<2 x 10(-3)). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 30-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.
Published: 2016

16. Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Author: Kuchenbaecker, Karoline B., Ramus, Susan J., Tyrer, Jonathan, Lee, Andrew, Shen, Howard C., Beesley, Jonathan, Lawrenson, Kate, McGuffog, Lesley, Healey, Sue, Lee, Janet M., Spindler, Tassja J., Lin, Yvonne G., Pejovic, Tanja, Bean, Yukie, Li, Qiyuan, Coetzee, Simon, Hazelett, Dennis, Miron, Alexander, Southey, Melissa, Terry, Mary Beth, Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Neuhausen, Susan L., Ding, Yuan Chun, Hansen, Thomas V. O., Jonson, Lars, Gerdes, Anne-Marie, Ejlertsen, Bent, Barrowdale, Daniel, Dennis, Joe, Benitez, Javier, Osorio, Ana, Garcia, Maria Jose, Komenaka, Ian, Weitzel, Jeffrey N., Ganschow, Pamela, Peterlongo, Paolo, Bernard, Loris, Viel, Alessandra, Bonanni, Bernardo, Peissel, Bernard, Manoukian, Siranoush, Radice, Paolo, Papi, Laura, Ottini, Laura, Fostira, Florentia, Konstantopoulou, Irene, Garber, Judy, Frost, Debra, Perkins, Jo, Platte, Radka, Ellis, Steve, Godwin, Andrew K., Schmutzler, Rita Katharina, Meindl, Alfons, Engel, Christoph, Sutter, Christian, Sinilnikova, Olga M., Damiola, Francesca, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Claes, Kathleen, De Leeneer, Kim, Kirk, Judy, Rodriguez, Gustavo C., Piedmonte, Marion, O'Malley, David M., de la Hoya, Miguel, Caldes, Trinidad, Aittomaeki, Kristiina, Nevanlinna, Heli, Collee, J. Margriet, Rookus, Matti A., Oosterwijk, Jan C., Tihomirova, Laima, Tung, Nadine, Hamann, Ute, Isaccs, Claudine, Tischkowitz, Marc, Imyanitov, Evgeny N., Caligo, Maria A., Campbell, Ian G., Hogervorst, Frans B. L., Olah, Edith, Diez, Orland, Blanco, Ignacio, Brunet, Joan, Lazaroso, Conxi, Angel Pujana, Miguel, Jakubowska, Anna, Gronwald, Jacek, Lubinski, Jan, Sukiennicki, Grzegorz, Barkardottir, Rosa B., Plante, Marie, Simard, Jacques, Soucy, Penny, Montagna, Marco, Tognazzo, Silvia, Teixeira, Manuel R., Pankratz, Vernon S., Wang, Xianshu, Lindor, Noralane, Szabo, Csilla I., Kauff, Noah, Vijai, Joseph, Aghajanian, Carol A., Pfeiler, Georg, Berger, Andreas, Singer, Christian F., Tea, Muy-Kheng, Phelan, Catherine M., Greene, Mark H., Mai, Phuong L., Rennert, Gad, Mulligan, Anna Marie, Tchatchou, Sandrine, Andrulis, Irene L., Glendon, Gord, Toland, Amanda Ewart, Jensen, Uffe Birk, Kruse, Torben A., Thomassen, Mads, Bojesen, Anders, Zidan, Jamal, Friedman, Eitan, Laitman, Yael, Soller, Maria, Liljegren, Annelie, Arver, Brita, Einbeigi, Zakaria, Stenmark-Askmalm, Marie, Olopade, Olufunmilayo I., Nussbaum, Robert L., Rebbeck, Timothy R., Nathanson, Katherine L., Domchek, Susan M., Lu, Karen H., Karlan, Beth Y., Walsh, Christine, Lester, Jenny, Hein, Alexander, Ekici, Arif B., Beckmann, Matthias W., Fasching, Peter A., Lambrechts, Diether, Van Nieuwenhuysen, Els, Vergote, Ignace, Lambrechts, Sandrina, Dicks, Ed, Doherty, Jennifer A., Wicklund, Kristine G., Rossing, Mary Anne, Rudolph, Anja, Chang-Claude, Jenny, Wang-Gohrke, Shan, Eilber, Ursula, Moysich, Kirsten B., Odunsi, Kunle, Sucheston, Lara, Lele, Shashi, Wilkens, Lynne R., Goodman, Marc T., Thompson, Pamela J., Shvetsov, Yurii B., Runnebaum, Ingo B., Duerst, Matthias, Hillemanns, Peter, Doerk, Thilo, Antonenkova, Natalia, Bogdanova, Natalia, Leminen, Arto, Pelttari, Liisa M., Butzow, Ralf, Modugno, Francesmary, Kelley, Joseph L., Edwards, Robert P., Ness, Roberta B., du Bois, Andreas, Heitz, Florian, Schwaab, Ira, Harter, Philipp, Matsuo, Keitaro, Hosono, Satoyo, Orsulic, Sandra, Jensen, Allan, Kjaer, Susanne Kruger, Hogdall, Estrid, Hasmad, Hanis Nazihah, Azmi, Mat Adenan Noor, Teo, Soo-Hwang, Woo, Yin-Ling, Fridley, Brooke L., Goode, Ellen L., Cunningham, Julie M., Vierkant, Robert A., Bruinsma, Fiona, Giles, Graham G., Liang, Dong, Hildebrandt, Michelle A. T., Wu, Xifeng, Levine, Douglas A., Bisogna, Maria, Berchuck, Andrew, Iversen, Edwin S., Schildkraut, Joellen M., Concannon, Patrick, Weber, Rachel Palmieri, Cramer, Daniel W., Terry, Kathryn L., Poole, Elizabeth M., Tworoger, Shelley S., Bandera, Elisa V., Orlow, Irene, Olson, Sara H., Krakstad, Camilla, Salvesen, Helga B., Tangen, Ingvild L., Bjorge, Line, van Altena, Anne M., Aben, Katja K. H., Kiemeney, Lambertus A., Massuger, Leon F. A. G., Kellar, Melissa, Brooks-Wilson, Angela, Kelemen, Linda E., Cook, Linda S., Le, Nhu D., Cybulski, Cezary, Yang, Hannah, Lissowska, Jolanta, Brinton, Louise A., Wentzensen, Nicolas, Hogdall, Claus, Lundvall, Lene, Nedergaard, Lotte, Baker, Helen, Song, Honglin, Eccles, Diana, McNeish, Ian, Paul, James, Carty, Karen, Siddiqui, Nadeem, Glasspool, Rosalind, Whittemore, Alice S., Rothstein, Joseph H., McGuire, Valerie, Sieh, Weiva, Ji, Bu-Tian, Zheng, Wei, Shu, Xiao-Ou, Gao, Yu-Tang, Rosen, Barry, Risch, Harvey A., McLaughlin, John R., Narod, Steven A., Monteiro, Alvaro N., Chen, Ann, Lin, Hui-Yi, Permuth-Wey, Jenny, Sellers, Thomas A., Tsai, Ya-Yu, Chen, Zhihua, Ziogas, Argyrios, Anton-Culver, Hoda, Gentry-Maharaj, Aleksandra, Menon, Usha, Harrington, Patricia, Lee, Alice W., Wu, Anna H., Pearce, Celeste L., Coetzee, Gerry, Pike, Malcolm C., Dansonka-Mieszkowska, Agnieszka, Timorek, Agnieszka, Rzepecka, Iwona K., Kupryjanczyk, Jolanta, Freedman, Matt, Noushmehr, Houtan, Easton, Douglas F., Offit, Kenneth, Couch, Fergus J., Gayther, Simon, Pharoah, Paul P., Antoniou, Antonis C., Chenevix-Trench, Georgia, Kuchenbaecker, Karoline B., Ramus, Susan J., Tyrer, Jonathan, Lee, Andrew, Shen, Howard C., Beesley, Jonathan, Lawrenson, Kate, McGuffog, Lesley, Healey, Sue, Lee, Janet M., Spindler, Tassja J., Lin, Yvonne G., Pejovic, Tanja, Bean, Yukie, Li, Qiyuan, Coetzee, Simon, Hazelett, Dennis, Miron, Alexander, Southey, Melissa, Terry, Mary Beth, Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Neuhausen, Susan L., Ding, Yuan Chun, Hansen, Thomas V. O., Jonson, Lars, Gerdes, Anne-Marie, Ejlertsen, Bent, Barrowdale, Daniel, Dennis, Joe, Benitez, Javier, Osorio, Ana, Garcia, Maria Jose, Komenaka, Ian, Weitzel, Jeffrey N., Ganschow, Pamela, Peterlongo, Paolo, Bernard, Loris, Viel, Alessandra, Bonanni, Bernardo, Peissel, Bernard, Manoukian, Siranoush, Radice, Paolo, Papi, Laura, Ottini, Laura, Fostira, Florentia, Konstantopoulou, Irene, Garber, Judy, Frost, Debra, Perkins, Jo, Platte, Radka, Ellis, Steve, Godwin, Andrew K., Schmutzler, Rita Katharina, Meindl, Alfons, Engel, Christoph, Sutter, Christian, Sinilnikova, Olga M., Damiola, Francesca, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Claes, Kathleen, De Leeneer, Kim, Kirk, Judy, Rodriguez, Gustavo C., Piedmonte, Marion, O'Malley, David M., de la Hoya, Miguel, Caldes, Trinidad, Aittomaeki, Kristiina, Nevanlinna, Heli, Collee, J. Margriet, Rookus, Matti A., Oosterwijk, Jan C., Tihomirova, Laima, Tung, Nadine, Hamann, Ute, Isaccs, Claudine, Tischkowitz, Marc, Imyanitov, Evgeny N., Caligo, Maria A., Campbell, Ian G., Hogervorst, Frans B. L., Olah, Edith, Diez, Orland, Blanco, Ignacio, Brunet, Joan, Lazaroso, Conxi, Angel Pujana, Miguel, Jakubowska, Anna, Gronwald, Jacek, Lubinski, Jan, Sukiennicki, Grzegorz, Barkardottir, Rosa B., Plante, Marie, Simard, Jacques, Soucy, Penny, Montagna, Marco, Tognazzo, Silvia, Teixeira, Manuel R., Pankratz, Vernon S., Wang, Xianshu, Lindor, Noralane, Szabo, Csilla I., Kauff, Noah, Vijai, Joseph, Aghajanian, Carol A., Pfeiler, Georg, Berger, Andreas, Singer, Christian F., Tea, Muy-Kheng, Phelan, Catherine M., Greene, Mark H., Mai, Phuong L., Rennert, Gad, Mulligan, Anna Marie, Tchatchou, Sandrine, Andrulis, Irene L., Glendon, Gord, Toland, Amanda Ewart, Jensen, Uffe Birk, Kruse, Torben A., Thomassen, Mads, Bojesen, Anders, Zidan, Jamal, Friedman, Eitan, Laitman, Yael, Soller, Maria, Liljegren, Annelie, Arver, Brita, Einbeigi, Zakaria, Stenmark-Askmalm, Marie, Olopade, Olufunmilayo I., Nussbaum, Robert L., Rebbeck, Timothy R., Nathanson, Katherine L., Domchek, Susan M., Lu, Karen H., Karlan, Beth Y., Walsh, Christine, Lester, Jenny, Hein, Alexander, Ekici, Arif B., Beckmann, Matthias W., Fasching, Peter A., Lambrechts, Diether, Van Nieuwenhuysen, Els, Vergote, Ignace, Lambrechts, Sandrina, Dicks, Ed, Doherty, Jennifer A., Wicklund, Kristine G., Rossing, Mary Anne, Rudolph, Anja, Chang-Claude, Jenny, Wang-Gohrke, Shan, Eilber, Ursula, Moysich, Kirsten B., Odunsi, Kunle, Sucheston, Lara, Lele, Shashi, Wilkens, Lynne R., Goodman, Marc T., Thompson, Pamela J., Shvetsov, Yurii B., Runnebaum, Ingo B., Duerst, Matthias, Hillemanns, Peter, Doerk, Thilo, Antonenkova, Natalia, Bogdanova, Natalia, Leminen, Arto, Pelttari, Liisa M., Butzow, Ralf, Modugno, Francesmary, Kelley, Joseph L., Edwards, Robert P., Ness, Roberta B., du Bois, Andreas, Heitz, Florian, Schwaab, Ira, Harter, Philipp, Matsuo, Keitaro, Hosono, Satoyo, Orsulic, Sandra, Jensen, Allan, Kjaer, Susanne Kruger, Hogdall, Estrid, Hasmad, Hanis Nazihah, Azmi, Mat Adenan Noor, Teo, Soo-Hwang, Woo, Yin-Ling, Fridley, Brooke L., Goode, Ellen L., Cunningham, Julie M., Vierkant, Robert A., Bruinsma, Fiona, Giles, Graham G., Liang, Dong, Hildebrandt, Michelle A. T., Wu, Xifeng, Levine, Douglas A., Bisogna, Maria, Berchuck, Andrew, Iversen, Edwin S., Schildkraut, Joellen M., Concannon, Patrick, Weber, Rachel Palmieri, Cramer, Daniel W., Terry, Kathryn L., Poole, Elizabeth M., Tworoger, Shelley S., Bandera, Elisa V., Orlow, Irene, Olson, Sara H., Krakstad, Camilla, Salvesen, Helga B., Tangen, Ingvild L., Bjorge, Line, van Altena, Anne M., Aben, Katja K. H., Kiemeney, Lambertus A., Massuger, Leon F. A. G., Kellar, Melissa, Brooks-Wilson, Angela, Kelemen, Linda E., Cook, Linda S., Le, Nhu D., Cybulski, Cezary, Yang, Hannah, Lissowska, Jolanta, Brinton, Louise A., Wentzensen, Nicolas, Hogdall, Claus, Lundvall, Lene, Nedergaard, Lotte, Baker, Helen, Song, Honglin, Eccles, Diana, McNeish, Ian, Paul, James, Carty, Karen, Siddiqui, Nadeem, Glasspool, Rosalind, Whittemore, Alice S., Rothstein, Joseph H., McGuire, Valerie, Sieh, Weiva, Ji, Bu-Tian, Zheng, Wei, Shu, Xiao-Ou, Gao, Yu-Tang, Rosen, Barry, Risch, Harvey A., McLaughlin, John R., Narod, Steven A., Monteiro, Alvaro N., Chen, Ann, Lin, Hui-Yi, Permuth-Wey, Jenny, Sellers, Thomas A., Tsai, Ya-Yu, Chen, Zhihua, Ziogas, Argyrios, Anton-Culver, Hoda, Gentry-Maharaj, Aleksandra, Menon, Usha, Harrington, Patricia, Lee, Alice W., Wu, Anna H., Pearce, Celeste L., Coetzee, Gerry, Pike, Malcolm C., Dansonka-Mieszkowska, Agnieszka, Timorek, Agnieszka, Rzepecka, Iwona K., Kupryjanczyk, Jolanta, Freedman, Matt, Noushmehr, Houtan, Easton, Douglas F., Offit, Kenneth, Couch, Fergus J., Gayther, Simon, Pharoah, Paul P., Antoniou, Antonis C., and Chenevix-Trench, Georgia
Abstract: Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high risk of EOC. After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic variants with EOC risk from 15,437 cases unselected for family history and 30,845 controls and from 15,252 BRCA1 mutation carriers and 8,211 BRCA2 mutation carriers (3,096 with ovarian cancer), and we combined the results in a meta-analysis. This new study design yielded increased statistical power, leading to the discovery of six new EOC susceptibility loci. Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 x 10(-8). Incorporating these variants into risk assessment tools will improve clinical risk predictions for BRCA1 and BRCA2 mutation carriers.
Published: 2015

17. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

Author: Antoniou, Antonis C., Wang, Xianshu, Fredericksen, Zachary S., McGuffog, Lesley, Tarrell, Robert, Sinilnikova, Olga M., Healey, Sue, Morrison, Jonathan, Kartsonaki, Christiana, Lesnick, Timothy, Ghoussaini, Maya, Barrowdale, Daniel, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Eccles, Diana, Evans, D. Gareth, Eeles, Ros, Izatt, Louise, Chu, Carol, Douglas, Fiona, Paterson, Joan, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Mazoyer, Sylvie, Giraud, Sophie, Lasset, Christine, Remenieras, Audrey, Caron, Olivier, Hardouin, Agnes, Berthet, Pascaline, Hogervorst, Frans B. L., Rookus, Matti A., Jager, Agnes, van den Ouweland, Ans, Hoogerbrugge, Nicoline, van der Luijt, Rob B., Meijers-Heijboer, Hanne, Garcia, Encarna B. Gomez, Devilee, Peter, Vreeswijk, Maaike P. G., Lubinski, Jan, Jakubowska, Anna, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Gorski, Bohdan, Cybulski, Cezary, Spurdle, Amanda B., Holland, Helene, Goldgar, David E., John, Esther M., Hopper, John L., Southey, Melissa, Buys, Saundra S., Daly, Mary B., Terry, Mary-Beth, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Preisler-Adams, Sabine, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy, Blum, Joanne L., Piedmonte, Marion, Rodriguez, Gustavo C., Wakeley, Katie, Boggess, John F., Basil, Jack, Blank, Stephanie V., Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Kirchhoff, Tomas, Vijai, Joseph, Gaudet, Mia M., Altshuler, David, Guiducci, Candace, Loman, Niklas, Harbst, Katja, Rantala, Johanna, Ehrencrona, Hans, Gerdes, Anne-Marie, Thomassen, Mads, Sunde, Lone, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Viel, Alessandra, Radice, Paolo, Caldes, Trinidad, de la Hoya, Miguel, Singer, Christian F., Fink-Retter, Anneliese, Greene, Mark H., Mai, Phuong L., Loud, Jennifer T., Guidugli, Lucia, Lindor, Noralane M., Hansen, Thomas V. O., Nielsen, Finn C., Blanco, Ignacio, Lazaro, Conxi, Garber, Judy, Ramus, Susan J., Gayther, Simon A., Phelan, Catherine, Narod, Stephen, Szabo, Csilla I., Benitez, Javier, Osorio, Ana, Nevanlinna, Heli, Heikkinen, Tuomas, Caligo, Maria A., Beattie, Mary S., Hamann, Ute, Godwin, Andrew K., Montagna, Marco, Casella, Cinzia, Neuhausen, Susan L., Karlan, Beth Y., Tung, Nadine, Toland, Amanda E., Weitzel, Jeffrey, Olopade, Olofunmilayo, Simard, Jacques, Soucy, Penny, Rubinstein, Wendy S., Arason, Adalgeir, Rennert, Gad, Martin, Nicholas G., Montgomery, Grant W., Chang-Claude, Jenny, Flesch-Janys, Dieter, Brauch, Hiltrud, Severi, Gianluca, Baglietto, Laura, Cox, Angela, Cross, Simon S., Miron, Penelope, Gerty, Sue M., Tapper, William, Yannoukakos, Drakoulis, Fountzilas, George, Fasching, Peter A., Beckmann, Matthias W., Silva, Isabel dos Santos, Peto, Julian, Lambrechts, Diether, Paridaens, Robert, Ruediger, Thomas, Foersti, Asta, Winqvist, Robert, Pylkaes, Katri, Diasio, Robert B., Lee, Adam M., Eckel-Passow, Jeanette, Vachon, Celine, Blows, Fiona, Driver, Kristy, Dunning, Alison, Pharoah, Paul P. D., Offit, Kenneth, Pankratz, V. Shane, Hakonarson, Hakon, Chenevix-Trench, Georgia, Easton, Douglas F., Couch, Fergus J., Antoniou, Antonis C., Wang, Xianshu, Fredericksen, Zachary S., McGuffog, Lesley, Tarrell, Robert, Sinilnikova, Olga M., Healey, Sue, Morrison, Jonathan, Kartsonaki, Christiana, Lesnick, Timothy, Ghoussaini, Maya, Barrowdale, Daniel, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Eccles, Diana, Evans, D. Gareth, Eeles, Ros, Izatt, Louise, Chu, Carol, Douglas, Fiona, Paterson, Joan, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Mazoyer, Sylvie, Giraud, Sophie, Lasset, Christine, Remenieras, Audrey, Caron, Olivier, Hardouin, Agnes, Berthet, Pascaline, Hogervorst, Frans B. L., Rookus, Matti A., Jager, Agnes, van den Ouweland, Ans, Hoogerbrugge, Nicoline, van der Luijt, Rob B., Meijers-Heijboer, Hanne, Garcia, Encarna B. Gomez, Devilee, Peter, Vreeswijk, Maaike P. G., Lubinski, Jan, Jakubowska, Anna, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Gorski, Bohdan, Cybulski, Cezary, Spurdle, Amanda B., Holland, Helene, Goldgar, David E., John, Esther M., Hopper, John L., Southey, Melissa, Buys, Saundra S., Daly, Mary B., Terry, Mary-Beth, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Preisler-Adams, Sabine, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy, Blum, Joanne L., Piedmonte, Marion, Rodriguez, Gustavo C., Wakeley, Katie, Boggess, John F., Basil, Jack, Blank, Stephanie V., Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Kirchhoff, Tomas, Vijai, Joseph, Gaudet, Mia M., Altshuler, David, Guiducci, Candace, Loman, Niklas, Harbst, Katja, Rantala, Johanna, Ehrencrona, Hans, Gerdes, Anne-Marie, Thomassen, Mads, Sunde, Lone, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Viel, Alessandra, Radice, Paolo, Caldes, Trinidad, de la Hoya, Miguel, Singer, Christian F., Fink-Retter, Anneliese, Greene, Mark H., Mai, Phuong L., Loud, Jennifer T., Guidugli, Lucia, Lindor, Noralane M., Hansen, Thomas V. O., Nielsen, Finn C., Blanco, Ignacio, Lazaro, Conxi, Garber, Judy, Ramus, Susan J., Gayther, Simon A., Phelan, Catherine, Narod, Stephen, Szabo, Csilla I., Benitez, Javier, Osorio, Ana, Nevanlinna, Heli, Heikkinen, Tuomas, Caligo, Maria A., Beattie, Mary S., Hamann, Ute, Godwin, Andrew K., Montagna, Marco, Casella, Cinzia, Neuhausen, Susan L., Karlan, Beth Y., Tung, Nadine, Toland, Amanda E., Weitzel, Jeffrey, Olopade, Olofunmilayo, Simard, Jacques, Soucy, Penny, Rubinstein, Wendy S., Arason, Adalgeir, Rennert, Gad, Martin, Nicholas G., Montgomery, Grant W., Chang-Claude, Jenny, Flesch-Janys, Dieter, Brauch, Hiltrud, Severi, Gianluca, Baglietto, Laura, Cox, Angela, Cross, Simon S., Miron, Penelope, Gerty, Sue M., Tapper, William, Yannoukakos, Drakoulis, Fountzilas, George, Fasching, Peter A., Beckmann, Matthias W., Silva, Isabel dos Santos, Peto, Julian, Lambrechts, Diether, Paridaens, Robert, Ruediger, Thomas, Foersti, Asta, Winqvist, Robert, Pylkaes, Katri, Diasio, Robert B., Lee, Adam M., Eckel-Passow, Jeanette, Vachon, Celine, Blows, Fiona, Driver, Kristy, Dunning, Alison, Pharoah, Paul P. D., Offit, Kenneth, Pankratz, V. Shane, Hakonarson, Hakon, Chenevix-Trench, Georgia, Easton, Douglas F., and Couch, Fergus J.
Abstract: Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 mutations who were diagnosed with invasive breast cancer under age 40 and 1,190 BRCA1 carriers without breast cancer diagnosis over age 35. We took forward 96 SNPs for replication in another 5,986 BRCA1 carriers (2,974 individuals with breast cancer and 3,012 unaffected individuals). Five SNPs on 19p13 were associated with breast cancer risk (P-trend = 2.3 x 10(-9) to Ptrend = 3.9 x 10(-7)), two of which showed independent associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17-1.35; rs2363956 HR = 0.84, 95% CI 0.80-0.89). Genotyping these SNPs in 6,800 population-based breast cancer cases and 6,613 controls identified a similar association with estrogen receptor-negative breast cancer (rs2363956 per-allele odds ratio (OR) = 0.83, 95% CI 0.75-0.92, P-trend = 0.0003) and an association with estrogen receptor-positive disease in the opposite direction (OR = 1.07, 95% CI 1.01-1.14, P-trend = 0.016). The five SNPs were also associated with triple-negative breast cancer in a separate study of 2,301 triple-negative cases and 3,949 controls (Ptrend = 1 x 10(-7) to Ptrend = 8 x 10(-5); rs2363956 per-allele OR = 0.80, 95% CI 0.74-0.87, P-trend = 1.1 x 10(-7)).
Published: 2010

18. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Author: Bojesen, Stig E, Pooley, Karen A, Johnatty, Sharon E, Beesley, Jonathan, Michailidou, Kyriaki, Tyrer, Jonathan P, Edwards, Stacey L, Pickett, Hilda A, Shen, Howard C, Smart, Chanel E, Hillman, Kristine M, Mai, Phuong L, Lawrenson, Kate, Stutz, Michael D, Lu, Yi, Karevan, Rod, Woods, Nicholas, Johnston, Rebecca L, French, Juliet D, Chen, Xiaoqing, Weischer, Maren, Nielsen, Sune F, Maranian, Melanie J, Ghoussaini, Maya, Ahmed, Shahana, Baynes, Caroline, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Healey, Sue, Lush, Michael, Tessier, Daniel C, Vincent, Daniel, Bacot, Françis, Vergote, Ignace, Lambrechts, Sandrina, Despierre, Evelyn, Risch, Harvey A, González-Neira, Anna, Rossing, Mary Anne, Pita, Guillermo, Doherty, Jennifer A, Álvarez, Nuria, Larson, Melissa C, Fridley, Brooke L, Schoof, Nils, Chang-Claude, Jenny, Cicek, Mine S, Peto, Julian, Kalli, Kimberly R, Broeks, Annegien, Armasu, Sebastian M, Schmidt, Marjanka K, Braaf, Linde M, Winterhoff, Boris, Nevanlinna, Heli, Konecny, Gottfried E, Lambrechts, Diether, Rogmann, Lisa, Guénel, Pascal, Teoman, Attila, Milne, Roger L, Garcia, Joaquin J, Cox, Angela, Shridhar, Vijayalakshmi, Burwinkel, Barbara, Marme, Frederik, Hein, Rebecca, Sawyer, Elinor J, Haiman, Christopher A, Wang-Gohrke, Shan, Andrulis, Irene L, Moysich, Kirsten B, Hopper, John L, Odunsi, Kunle, Lindblom, Annika, Giles, Graham G, Brenner, Hermann, Simard, Jacques, Lurie, Galina, Fasching, Peter A, Carney, Michael E, Radice, Paolo, Wilkens, Lynne R, Swerdlow, Anthony, Goodman, Marc T, Brauch, Hiltrud, Garcia-Closas, Montserrat, Hillemanns, Peter, Winqvist, Robert, Dürst, Matthias, Devilee, Peter, Runnebaum, Ingo, Jakubowska, Anna, Lubinski, Jan, Mannermaa, Arto, Butzow, Ralf, Bogdanova, Natalia V, Dörk, Thilo, Pelttari, Liisa M, Zheng, Wei, Leminen, Arto, Anton-Culver, Hoda, Bunker, Clareann H, Kristensen, Vessela, Ness, Roberta B, Muir, Kenneth, Edwards, Robert, Meindl, Alfons, Heitz, Florian, Matsuo, Keitaro, du Bois, Andreas, Wu, Anna H, Harter, Philipp, Teo, Soo-Hwang, Schwaab, Ira, Shu, Xiao-Ou, Blot, William, Hosono, Satoyo, Kang, Daehee, Nakanishi, Toru, Hartman, Mikael, Yatabe, Yasushi, Hamann, Ute, Karlan, Beth Y, Sangrajrang, Suleeporn, Kjaer, Susanne Krüger, Gaborieau, Valerie, Jensen, Allan, Eccles, Diana, Høgdall, Estrid, Shen, Chen-Yang, Brown, Judith, Woo, Yin Ling, Shah, Mitul, Azmi, Mat Adenan Noor, Luben, Robert, Omar, Siti Zawiah, Czene, Kamila, Vierkant, Robert A, Nordestgaard, Børge G, Flyger, Henrik, Vachon, Celine, Olson, Janet E, Wang, Xianshu, Levine, Douglas A, Rudolph, Anja, Weber, Rachel Palmieri, Flesch-Janys, Dieter, Iversen, Edwin, Nickels, Stefan, Schildkraut, Joellen M, Silva, Isabel Dos Santos, Cramer, Daniel William, Gibson, Lorna, Terry, Kathryn Lynne, Fletcher, Olivia, Vitonis, Allison F, van der Schoot, C Ellen, Poole, Elizabeth M., Hogervorst, Frans B L, Tworoger, Shelley Slate, Liu, Jianjun, Bandera, Elisa V, Li, Jingmei, Olson, Sara H, Humphreys, Keith, Orlow, Irene, Blomqvist, Carl, Rodriguez-Rodriguez, Lorna, Aittomäki, Kristiina, Salvesen, Helga B, Muranen, Taru A, Wik, Elisabeth, Brouwers, Barbara, Krakstad, Camilla, Wauters, Els, Halle, Mari K, Wildiers, Hans, Kiemeney, Lambertus A, Mulot, Claire, Aben, Katja K, Laurent-Puig, Pierre, Altena, Anne Mvan, Truong, Thérèse, Massuger, Leon F A G, Benitez, Javier, Pejovic, Tanja, Perez, Jose Ignacio Arias, Hoatlin, Maureen, Zamora, M Pilar, Cook, Linda S, Balasubramanian, Sabapathy P, Kelemen, Linda E, Schneeweiss, Andreas, Le, Nhu D, Sohn, Christof, Brooks-Wilson, Angela, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Cybulski, Cezary, Henderson, Brian E, Menkiszak, Janusz, Schumacher, Fredrick, Wentzensen, Nicolas, Le Marchand, Loic, Yang, Hannah P, Mulligan, Anna Marie, Glendon, Gord, Engelholm, Svend Aage, Knight, Julia A, Høgdall, Claus K, Apicella, Carmel, Gore, Martin, Tsimiklis, Helen, Song, Honglin, Southey, Melissa C, Jager, Agnes, den Ouweland, Ans M Wvan, Brown, Robert, Martens, John W M, Flanagan, James M, Kriege, Mieke, Paul, James, Margolin, Sara, Siddiqui, Nadeem, Severi, Gianluca, Whittemore, Alice S, Baglietto, Laura, McGuire, Valerie, Stegmaier, Christa, Sieh, Weiva, Müller, Heiko, Arndt, Volker, Labrèche, France, Gao, Yu-Tang, Goldberg, Mark S, Yang, Gong, Dumont, Martine, McLaughlin, John R, Hartmann, Arndt, Ekici, Arif B, Beckmann, Matthias W, Phelan, Catherine M, Lux, Michael P, Permuth-Wey, Jenny, Peissel, Bernard, Sellers, Thomas A, Ficarazzi, Filomena, Barile, Monica, Ziogas, Argyrios, Ashworth, Alan, Gentry-Maharaj, Aleksandra, Jones, Michael, Ramus, Susan J, Orr, Nick, Menon, Usha, Pearce, Celeste L, Brüning, Thomas, Pike, Malcolm C, Ko, Yon-Dschun, Lissowska, Jolanta, Figueroa, Jonine, Kupryjanczyk, Jolanta, Chanock, Stephen J, Dansonka-Mieszkowska, Agnieszka, Jukkola-Vuorinen, Arja, Rzepecka, Iwona K, Pylkäs, Katri, Bidzinski, Mariusz, Kauppila, Saila, Hollestelle, Antoinette, Seynaeve, Caroline, Tollenaar, Rob A E M, Durda, Katarzyna, Jaworska, Katarzyna, Hartikainen, Jaana M, Kosma, Veli-Matti, Kataja, Vesa, Antonenkova, Natalia N, Long, Jirong, Shrubsole, Martha, Deming-Halverson, Sandra, Lophatananon, Artitaya, Siriwanarangsan, Pornthep, Stewart-Brown, Sarah, Ditsch, Nina, Lichtner, Peter, Schmutzler, Rita K, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Tseng, Chiu-Chen, Stram, Daniel O, van den Berg, David, Yip, Cheng Har, Ikram, M Kamran, Teh, Yew-Ching, Cai, Hui, Lu, Wei, Signorello, Lisa B, Cai, Qiuyin, Noh, Dong-Young, Yoo, Keun-Young, Miao, Hui, Iau, Philip Tsau-Choong, Teo, Yik Ying, McKay, James, Shapiro, Charles, Ademuyiwa, Foluso, Fountzilas, George, Hsiung, Chia-Ni, Yu, Jyh-Cherng, Hou, Ming-Feng, Healey, Catherine S, Luccarini, Craig, Peock, Susan, Stoppa-Lyonnet, Dominique, Peterlongo, Paolo, Rebbeck, Timothy R, Piedmonte, Marion, Singer, Christian F, Friedman, Eitan, Thomassen, Mads, Offit, Kenneth, Hansen, Thomas V O, Neuhausen, Susan L, Szabo, Csilla I, Blanco, Ignacio, Garber, Judy Ellen, Narod, Steven A, Weitzel, Jeffrey N, Montagna, Marco, Olah, Edith, Godwin, Andrew K, Yannoukakos, Drakoulis, Goldgar, David E, Caldes, Trinidad, Imyanitov, Evgeny N, Tihomirova, Laima, Arun, Banu K, Campbell, Ian, Mensenkamp, Arjen R, van Asperen, Christi J, van Roozendaal, Kees E P, Meijers-Heijboer, Hanne, Collée, J Margriet, Oosterwijk, Jan C, Hooning, Maartje J, Rookus, Matti A, van der Luijt, Rob B, Os, Theo A Mvan, Evans, D Gareth, Frost, Debra, Fineberg, Elena, Barwell, Julian, Walker, Lisa, Kennedy, M John, Platte, Radka, Davidson, Rosemarie, Ellis, Steve D, Cole, Trevor, Bressac-de Paillerets, Brigitte, Buecher, Bruno, Damiola, Francesca, Faivre, Laurence, Frenay, Marc, Sinilnikova, Olga M, Caron, Olivier, Giraud, Sophie, Mazoyer, Sylvie, Bonadona, Valérie, Caux-Moncoutier, Virginie, Toloczko-Grabarek, Aleksandra, Gronwald, Jacek, Byrski, Tomasz, Spurdle, Amanda B, Bonanni, Bernardo, Zaffaroni, Daniela, Giannini, Giuseppe, Bernard, Loris, Dolcetti, Riccardo, Manoukian, Siranoush, Arnold, Norbert, Engel, Christoph, Deissler, Helmut, Rhiem, Kerstin, Niederacher, Dieter, Plendl, Hansjoerg, Sutter, Christian, Wappenschmidt, Barbara, Borg, Åke, Melin, Beatrice, Rantala, Johanna, Soller, Maria, Nathanson, Katherine L, Domchek, Susan M, Rodriguez, Gustavo C, Salani, Ritu, Kaulich, Daphne Gschwantler, Tea, Muy-Kheng, Paluch, Shani Shimon, Laitman, Yael, Skytte, Anne-Bine, Kruse, Torben A, Jensen, Uffe Birk, Robson, Mark, Gerdes, Anne-Marie, Ejlertsen, Bent, Foretova, Lenka, Savage, Sharon A, Lester, Jenny, Soucy, Penny, Kuchenbaecker, Karoline B, Olswold, Curtis, Cunningham, Julie M, Slager, Susan, Pankratz, Vernon S, Dicks, Ed, Lakhani, Sunil R, Couch, Fergus J, Hall, Per, Monteiro, Alvaro N A, Gayther, Simon A, Pharoah, Paul D P, Reddel, Roger R, Goode, Ellen L, Greene, Mark H, Easton, Douglas F, Berchuck, Andrew, Antoniou, Antonis C, Chenevix-Trench, Georgia, and Dunning, Alison M
Abstract: TERT-locus single nucleotide polymorphisms (SNPs) and leucocyte telomere measures are reportedly associated with risks of multiple cancers. Using the iCOGs chip, we analysed ~480 TERT-locus SNPs in breast (n=103,991), ovarian (n=39,774) and BRCA1 mutation carrier (11,705) cancer cases and controls. 53,724 participants have leucocyte telomere measures. Most associations cluster into three independent peaks. Peak 1 SNP rs2736108 minor allele associates with longer telomeres (P=5.8×10−7), reduced estrogen receptor negative (ER-negative) (P=1.0×10−8) and BRCA1 mutation carrier (P=1.1×10−5) breast cancer risks, and altered promoter-assay signal. Peak 2 SNP rs7705526 minor allele associates with longer telomeres (P=2.3×10−14), increased low malignant potential ovarian cancer risk (P=1.3×10−15) and increased promoter activity. Peak 3 SNPs rs10069690 and rs2242652 minor alleles increase ER-negative (P=1.2×10−12) and BRCA1 mutation carrier (P=1.6×10−14) breast and invasive ovarian (P=1.3×10−11) cancer risks, but not via altered telomere length. The cancer-risk alleles of rs2242652 and rs10069690 respectively increase silencing and generate a truncated TERT splice-variant.
Published: 2013
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19. Detectable clonal mosaicism and its relationship to aging and cancer

Author: Jacobs, Kevin B., Yeager, Meredith, Zhou, Weiyin, Wacholder, Sholom, Wang, Zhaoming, Rodriguez-Santiago, Benjamin, Hutchinson, Amy, Deng, Xiang, Liu, Chenwei, Horner, Marie-Josephe, Cullen, Michael, Liao, Linda, Schwartz, Ann G., McNeill, Lorna H., Schwenn, Molly, Figueroa, Jonine D., Henderson, Brian E., Shu, Xiao-Ou, Zeleniuch-Jacquotte, Anne, Wiencke, John K., Gonzalez, Juan R., Gallinger, Steven, Fan, Jin-Hu, Thomas, Gilles, Wrensch, Margaret, Savage, Sharon A., Silverman, Debra T., Amos, Christopher I., Tang, Ze-Zhong, Sierrasesúmaga, Luis, Consonni, Dario, Albanes, Demetrius, Trichopoulos, Dimitrios, Olson, Sara H., Chow, Wong-Ho, Krogh, Vittorio, Beane Freeman, Laura, Kratz, Christian P., Holly, Elizabeth A., Blot, William J., Hallmans, Göran, Peters, Ulrike, Duell, Eric J., Brinton, Louise A., Yu, Herbert, Hoover, Robert N., Caporaso, Neil E ., Bertazzi, Pier Alberto, Chanock, Stephen J., Erickson, Ralph L., Elena, Joanne W., Visvanathan, Kala, Tobias, Geoffrey S., Rothman, Nathaniel, Gross, Myron D., Hassan, Manal, Chang, Kenneth, Cotterchio, Michelle, Johnson, Alison, Moore, Lee E., Rajaraman, Preetha, Purdue, Mark, Klein, Alison P., Wheeler, William, Wentzensen, Nicolas, Tjønneland, Anne, Arslan, Alan A., Petersen, Gloria, Chatterjee, Nilanjan, Canzian, Federico, Goggins, Michael, Landi, Maria Teresa, Kurtz, Robert C., Graubard, Barry I., Kovaks, Joseph, Marenne, Gaelle, Dean, Michael C., Giovannucci, Edward L., Wunder, Jay S., Andrulis, Irene L., Butler, Mary A., Jenab, Mazda, Bueno de Mesquita, H. Bas, Marchand, Loic Le, Carreon, Tania, Goldin, Lynn, Virtamo, Jarmo, Ruder, Avima M., Peplonska, Beata, Burdett, Laurie, Sampson, Joshua, Gorlick, Richard G., Fuchs, Charles S., Chung, Charles C., Barkauskas, Donald A., Taylor, Philip R., Haiman, Christopher A., Hunter, David J., Gapstur, Susan M., Giles, Graham G., White, Emily, Mendelsohn, Julie B., Zheng, Wei, Lissowska, Jolanta, Amundadottir, Laufey, Andersson, Ulrika, Davis, Faith G., Freedman, Neal D., Boutron-Ruault, Marie-Christine, LaCroix, Andrea, Rabe, Kari G., Hankinson, Susan E., Bracci, Paige M., McKean-Cowdin, Roberta, Weinstein, Stephanie J., Mandelson, Margaret T., Gao, Yu-Tang, Kolonel, Laurence N., Harris, Curtis C., Teras, Lauren T., Fraumeni Jr., Joseph F., Greene, Mark H., Sesso, Howard D., Mirabello, Lisa, Schwartz, Kendra L., Risch, Harvey A., Abnet, Christian C., Prokunina-Olsson, Ludmila, Garcia Closas, Montserrat, Michaud, Dominique S., Stevens, Victoria L., Signorello, Lisa B., Tucker, Margaret, Ding, Ti, Aldrich, Melinda C., Stram, Daniel, Kraft, Peter, Pérez Jurado, Luis A., Berg, Christine D., Hoffman Bolton, Judith A., Koh, Woon-Puay, Buring, Julie E., Ziegler, Regina G., Bock, Cathryn H., McWilliams, Robert R., Feychting, Maria, Goldstein, Alisa M., Hartge, Patricia, Johansen, Christoffer, Hu, Nan, Patiño García, Ana, Rotunno, Melissa, Gillanders, Elizabeth M., Rybicki, Benjamin A., Spitz, Margaret R., Riboli, Elio, Gaziano, J. Michael, Epstein, Caroline G., Khaw, Kay-Tee, Inskip, Peter D., Melin, Beatrice S., Severi, Gianluca, McGlynn, Katherine A., Wolpin, Brian M., Henriksson, Roger, Stolzenberg-Solomon, Rachael Z., Qiao, You-Lin, Gaudet, Mia M., Wu, Xifeng, Berndt, Sonja I., Yu, Kai, Hsing, Ann W., Landgren, Annelie, Wolk, Alicja, Xiang, Yong-Bing, Ahlbom, Anders, Cook, Michael B., Black, Amanda, Baris, Dalsu, Yuan, Jian-Min, Li, Donghui, Malats, Núria, Jiao, Li, Kogevinas, Manolis, Kooperberg, Charles, Villa, Olaya, Real, Francisco X., Zanetti, Krista A., and Schumacher, Fredrick
Subjects: Aging, Envelliment, Càncer, Cancer
Abstract: In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies, we observed large chromosomal abnormalities in a subset of clones in DNA obtained from blood or buccal samples. We observed mosaic abnormalities, either aneuploidy or copy-neutral loss of heterozygosity, of > 2 Mb in size in autosomes of 517 individuals (0.89%), with abnormal cell proportions of between 7% and 95%. In cancer-free individuals, frequency increased with age, from 0.23% under 50 years to 1.91% between 75 and 79 years (P = 4.8 x 10(-8)). Mosaic abnormalities were more frequent in individuals with solid tumors (0.97% versus 0.74% in cancer-free individuals; odds ratio (OR) = 1.25; P = 0.016), with stronger association with cases who had DNA collected before diagnosis or treatment (OR = 1.45; P = 0.0005). Detectable mosaicism was also more common in individuals for whom DNA was collected at least 1 year before diagnosis with leukemia compared to cancer-free individuals (OR = 35.4; P = 3.8 x 10(-11)). These findings underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases.

20. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Author: Fachal, L., Aschard, H., Beesley, J., Barnes, D.R., Allen, J., Kar, S., Pooley, K.A., Dennis, J., Michailidou, K., Turman, C., Soucy, P., Lemaçon, A., Lush, M., Tyrer, J.P., Ghoussaini, M., Marjaneh, M.M., Jiang, X., Agata, S., Aittomäki, K., Alonso, M.R., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Arason, A., Arndt, V., Aronson, K.J., Arun, B.K., Auber, B., Auer, P.L., Azzollini, J., Balmaña, J., Barkardottir, R.B., Barrowdale, D., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Białkowska, K., Blanco, A.M., Blomqvist, C., Blot, W., Bogdanova, N.V., Bojesen, S.E., Bolla, M.K., Bonanni, B., Borg, A., Bosse, K., Brauch, H., Brenner, H., Briceno, I., Brock, I.W., Brooks-Wilson, A., Brüning, T., Burwinkel, B., Buys, S.S., Cai, Q., Caldés, T., Caligo, M.A., Camp, N.J., Campbell, I., Canzian, F., Carroll, J.S., Carter, B.D., Castelao, J.E., Chiquette, J., Christiansen, H., Chung, W.K., Claes, K.B.M., Clarke, C.L., Mari, V., Berthet, P., Castera, L., Vaur, D., Lallaoui, H., Bignon, Y.-J., Uhrhammer, N., Bonadona, V., Lasset, C., Révillion, F., Vennin, P., Muller, D., Gomes, D.M., Ingster, O., Coupier, I., Pujol, P., Collonge-Rame, M.-A., Mortemousque, I., Bera, O., Rose, M., Baurand, A., Bertolone, G., Faivre, L., Dreyfus, H., Leroux, D., Venat-Bouvet, L., Bézieau, S., Delnatte, C., Chiesa, J., Gilbert-Dussardier, B., Gesta, P., Prieur, F.P., Bronner, M., Sokolowska, J., Coulet, F., Boutry-Kryza, N., Calender, A., Giraud, S., Leone, M., Fert-Ferrer, S., Stoppa-Lyonnet, D., Jiao, Y., Lesueur, F.L., Mebirouk, N., Barouk-Simonet, E., Bubien, V., Longy, M., Sevenet, N., Gladieff, L., Toulas, C., Reimineras, A., Sobol, H., Paillerets, B.B.-D., Cabaret, O., Caron, O., Guillaud-Bataille, M., Rouleau, E., Belotti, M., Buecher, B., Caputo, S., Colas, C., Pauw, A.D., Fourme, E., Gauthier-Villars, M., Golmard, L., Moncoutier, V., Saule, C., Donaldson, A., Murray, A., Brady, A., Brewer, C., Pottinger, C., Miller, C., Gallagher, D., Gregory, H., Cook, J., Eason, J., Adlard, J., Barwell, J., Ong, K.-R., Snape, K., Walker, L., Izatt, L., Side, L., Tischkowitz, M., Rogers, M.T., Porteous, M.E., Ahmed, M., Morrison, P.J., Brennan, P., Eeles, R., Davidson, R., Collée, M., Cornelissen, S., Couch, F.J., Cox, A., Cross, S.S., Cybulski, C., Czene, K., Daly, M.B., de la Hoya, M., Devilee, P., Diez, O., Ding, Y.C., Dite, G.S., Domchek, S.M., Dörk, T., dos-Santos-Silva, I., Droit, A., Dubois, S., Dumont, M., Duran, M., Durcan, L., Dwek, M., Eccles, D.M., Engel, C., Eriksson, M., Evans, D.G., Fasching, P.A., Fletcher, O., Floris, G., Flyger, H., Foretova, L., Foulkes, W.D., Friedman, E., Fritschi, L., Frost, D., Gabrielson, M., Gago-Dominguez, M., Gambino, G., Ganz, P.A., Gapstur, S.M., Garber, J., García-Sáenz, J.A., Gaudet, M.M., Georgoulias, V., Giles, G., Glendon, G., Godwin, A.K., Goldberg, M.S., Goldgar, D.E., González-Neira, A., Tibiletti, M.G., Greene, M.H., Grip, M., Gronwald, J., Grundy, A., Guénel, P., Hahnen, E., Haiman, C.A., Håkansson, N., Hall, P., Hamann, U., Harrington, P.A., Hartikainen, J.M., Hartman, M., He, W., Healey, C.S., Heemskerk-Gerritsen, B.A.M., Heyworth, J., Hillemanns, P., Hogervorst, F.B.L., Hollestelle, A., Hooning, M., Hopper, J., Howell, A., Huang, G., Hulick, P.J., Imyanitov, E.N., Sexton, A., Christian, A., Trainer, A., Spigelman, A., Fellows, A., Shelling, A., Fazio, A.D., Blackburn, A., Crook, A., Meiser, B., Patterson, B., Clarke, C., Saunders, C., Hunt, C., Scott, C., Amor, D., Marsh, D., Edkins, E., Salisbury, E., Haan, E., Neidermayr, E., Macrea, F., Farshid, G., Lindeman, G., Chenevix-Trench, G., Mann, G., Gill, G., Thorne, H., Hickie, I., Winship, I., Flanagan, J., Kollias, J., Visvader, J., Stone, J., Taylor, J., Burke, J., Saunus, J., Forbes, J., Kirk, J., French, J., Tucker, K., Wu, K., Phillips, K., Lipton, L., Andrews, L., Lobb, L., Kentwell, M., Spurdle, M., Cummings, M., Gleeson, M., Harris, M., Jenkins, M., Young, M.A., Delatycki, M., Wallis, M., Burgess, M., Price, M., Brown, M., Southey, M., Bogwitz, M., Field, M., Friedlander, M., Gattas, M., Saleh, M., Hayward, N., Pachter, N., Cohen, P., Duijf, P., James, P., Simpson, P., Fong, P., Butow, P., Williams, R., Kefford, R., Scott, R., Milne, R.L., Balleine, R., Dawson, S.–J., Lok, S., O’Connell, S., Greening, S., Nightingale, S., Edwards, S., Fox, S., McLachlan, S.-A., Lakhani, S., Antill, Y., Aalfs, C., Meijers-Heijboer, H., van Engelen, K., Gille, H., Boere, I., van Deurzen, C., Obdeijn, I.-M., van den Ouweland, A., Seynaeve, C., Siesling, S., Verloop, J., van Asperen, C.J., van Cronenburg, T., Blok, R., de Boer, M., Garcia, E.G., Adank, M., Hogervorst, F., Jenner, D., van Leeuwen, F., Rookus, M., Russell, N., Schmidt, M., van den Belt-Dusebout, S., Kets, C., Mensenkamp, A., de Bock, T., van der Hout, A., Mourits, M., Oosterwijk, J., Ausems, M., Koudijs, M., Baxter, R., Yip, D., Carpenter, J., Davis, A., Pathmanathan, N., Graham, D., Sachchithananthan, M., Isaacs, C., Iwasaki, M., Jager, A., Jakimovska, M., Jakubowska, A., James, P.A., Janavicius, R., Jankowitz, R.C., John, E.M., Johnson, N., Jones, M.E., Jukkola-Vuorinen, A., Jung, A., Kaaks, R., Kang, D., Kapoor, P.M., Karlan, B.Y., Keeman, R., Kerin, M.J., Khusnutdinova, E., Kiiski, J.I., Kitahara, C.M., Ko, Y.-D., Konstantopoulou, I., Kosma, V.-M., Koutros, S., Kubelka-Sabit, K., Kwong, A., Kyriacou, K., Laitman, Y., Lambrechts, D., Lee, E., Leslie, G., Lester, J., Lesueur, F., Lindblom, A., Lo, W.-Y., Long, J., Lophatananon, A., Loud, J.T., Lubiński, J., MacInnis, R.J., Maishman, T., Makalic, E., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, M.E., Matsuo, K., Maurer, T., Mavroudis, D., Mayes, R., McGuffog, L., McLean, C., Meindl, A., Miller, A., Miller, N., Montagna, M., Moreno, F., Muir, K., Mulligan, A.M., Muñoz-Garzon, V.M., Muranen, T.A., Narod, S.A., Nassir, R., Nathanson, K.L., Neuhausen, S.L., Nevanlinna, H., Neven, P., Nielsen, F.C., Nikitina-Zake, L., Norman, A., Offit, K., Olah, E., Olopade, O.I., Olsson, H., Orr, N., Osorio, A., Pankratz, V.S., Papp, J., Park, S.K., Park-Simon, T.-W., Parsons, M.T., Paul, J., Pedersen, I.S., Peissel, B., Peshkin, B., Peterlongo, P., Peto, J., Plaseska-Karanfilska, D., Prajzendanc, K., Prentice, R., Presneau, N., Prokofyeva, D., Pujana, M.A., Pylkäs, K., Radice, P., Ramus, S.J., Rantala, J., Rau-Murthy, R., Rennert, G., Risch, H.A., Robson, M., Romero, A., Rossing, M., Saloustros, E., Sánchez-Herrero, E., Sandler, D.P., Santamariña, M., Sawyer, E.J., Scheuner, M.T., Schmidt, D.F., Schmutzler, R.K., Schneeweiss, A., Schoemaker, M.J., Schöttker, B., Schürmann, P., Scott, R.J., Senter, L., Seynaeve, C.M., Shah, M., Sharma, P., Shen, C.-Y., Shu, X.-O., Singer, C.F., Slavin, T.P., Smichkoska, S., Southey, M.C., Spinelli, J.J., Spurdle, A.B., Sutter, C., Swerdlow, A.J., Tamimi, R.M., Tan, Y.Y., Tapper, W.J., Taylor, J.A., Teixeira, M.R., Tengström, M., Teo, S.H., Terry, M.B., Teulé, A., Thomassen, M., Thull, D.L., Toland, A.E., Tollenaar, R.A.E.M., Tomlinson, I., Torres, D., Torres-Mejía, G., Troester, M.A., Truong, T., Tung, N., Tzardi, M., Ulmer, H.-U., Vachon, C.M., van der Kolk, L.E., van Rensburg, E.J., Vega, A., Viel, A., Vijai, J., Vogel, M.J., Wang, Q., Wappenschmidt, B., Weinberg, C.R., Weitzel, J.N., Wendt, C., Wildiers, H., Winqvist, R., Wolk, A., Wu, A.H., Yannoukakos, D., Zhang, Y., Zheng, W., Hunter, D., Pharoah, P.D.P., Chang-Claude, J., García-Closas, M., Schmidt, M.K., Kristensen, V.N., French, J.D., Edwards, S.L., Antoniou, A.C., Simard, J., Easton, D.F., Kraft, P., Dunning, A.M., Collaborators, GEMO Study, Collaborators, EMBRACE, Investigators, KConFab, Investigators, HEBON, Investigators, ABCTB, Fachal, Laura, Aschard, Hugues, Beesley, Jonathan, Barnes, Daniel R, Duijf, Pascal, Dunning, Alison M, GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, ABCTB Investigators, MUMC+: MA Medische Oncologie (9), RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), European Commission, Government of Canada, Canadian Institutes of Health Research, National Institutes of Health (US), Cancer Research UK, Département de Biologie Computationnelle - Department of Computational Biology, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), QIMR Berghofer Medical Research Institute, University of Cambridge [UK] (CAM), NSCAD, University of Cyprus [Nicosia], Harvard T.H. Chan School of Public Health, This work was supported by the European Union’s Horizon 2020 Research and Innovation Programme under Marie Sklodowska-Curie grant agreement number 656144. Genotyping of the OncoArray was principally funded from three sources: the PERSPECTIVE project (funded by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the ‘Ministère de l’Économie de la Science et de l’Innovation du Québec’ (through Genome Québec) and the Quebec Breast Cancer Foundation), the NCI Genetic Associations and Mechanisms in Oncology (GAME-ON) initiative and the Discovery, Biology and Risk of Inherited Variants in Breast Cancer (DRIVE) project (NIH grants U19 CA148065 and X01HG007492), and Cancer Research UK (C1287/A10118, C8197/A16565 and C1287/A16563). BCAC is funded by Cancer Research UK (C1287/A16563), by the European Community’s Seventh Framework Programme under grant agreement 223175 (HEALTH-F2-2009-223175) (COGS) and by the European Union’s Horizon 2020 Research and Innovation Programme under grant agreements 633784 (B-CAST) and 634935 (BRIDGES). Genotyping of the iCOGS array was funded by the European Union (HEALTH-F2-2009-223175), Cancer Research UK (C1287/A10710), the Canadian Institutes of Health Research for the ‘CIHR Team in Familial Risks of Breast Cancer’ program, and the Ministry of Economic Development, Innovation and Export Trade of Quebec (grant PSR-SIIRI-701). Combining of the GWAS data was supported in part by NIH Cancer Post-Cancer GWAS initiative grant U19 CA 148065 (DRIVE, part of the GAME-ON initiative). For a full description of funding and acknowledgments, see the Supplementary Note., We thank all of the individuals who took part in these studies, as well as all of the researchers, clinicians, technicians and administrative staff who enabled this work to be carried out, European Project: 656144,H2020,H2020-MSCA-IF-2014,RADIOGENFF(2016), European Project: 223175,EC:FP7:HEALTH,FP7-HEALTH-2007-B,COGS(2009), European Project: 633784,H2020,H2020-PHC-2014-two-stage,B-CAST(2015), European Project: 634935,H2020,H2020-PHC-2014-two-stage,BRIDGES(2015), Clinical Genetics, Medical Oncology, Pathology, Radiology & Nuclear Medicine, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), University of Cyprus [Nicosia] (UCY), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Life Course Epidemiology (LCE), Targeted Gynaecologic Oncology (TARGON), Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE), Aschard, Hugues [0000-0002-7554-6783], Barnes, Daniel R [0000-0002-3781-7570], Dennis, Joe [0000-0003-4591-1214], Michailidou, Kyriaki [0000-0001-7065-1237], Lemaçon, Audrey [0000-0002-1817-7029], Andrulis, Irene L [0000-0002-4226-6435], Arason, Adalgeir [0000-0003-0480-886X], Arndt, Volker [0000-0001-9320-8684], Auber, Bernd [0000-0003-1880-291X], Azzollini, Jacopo [0000-0002-9364-9778], Bojesen, Stig E [0000-0002-4061-4133], Bonanni, Bernardo [0000-0003-3589-2128], Brauch, Hiltrud [0000-0001-7531-2736], Campbell, Ian [0000-0002-7773-4155], Carroll, Jason S [0000-0003-3643-0080], Claes, Kathleen BM [0000-0003-0841-7372], Collée, J Margriet [0000-0002-9272-9346], Devilee, Peter [0000-0002-8023-2009], Dörk, Thilo [0000-0002-9458-0282], Dwek, Miriam [0000-0001-7184-2932], Fletcher, Olivia [0000-0001-9387-7116], Floris, Giuseppe [0000-0003-2391-5425], Foulkes, William D [0000-0001-7427-4651], García-Sáenz, José A [0000-0001-6880-0301], Greene, Mark H [0000-0003-1852-9239], Guénel, Pascal [0000-0002-8359-518X], Heemskerk-Gerritsen, Bernadette AM [0000-0002-9724-6693], Hollestelle, Antoinette [0000-0003-1166-1966], Hulick, Peter J [0000-0001-8397-4078], Jakimovska, Milena [0000-0002-1506-0669], Jakubowska, Anna [0000-0002-5650-0501], James, Paul A [0000-0002-4361-4657], Jones, Michael E [0000-0001-7479-3451], Kapoor, Pooja Middha [0000-0001-5503-8215], Keeman, Renske [0000-0002-5452-9933], Konstantopoulou, Irene [0000-0002-0470-0309], Leslie, Goska [0000-0001-5756-6222], Lesueur, Fabienne [0000-0001-7404-4549], Matsuo, Keitaro [0000-0003-1761-6314], McLean, Catriona [0000-0002-0302-5727], Miller, Austin [0000-0001-9739-8462], Muir, Kenneth [0000-0001-6429-988X], Muranen, Taru A [0000-0002-5895-1808], Nathanson, Katherine L [0000-0002-6740-0901], Nevanlinna, Heli [0000-0002-0916-2976], Olopade, Olufunmilayo I [0000-0002-9936-1599], Orr, Nick [0000-0003-2866-942X], Pankratz, V Shane [0000-0002-3742-040X], Parsons, Michael T [0000-0003-3242-8477], Paul, James [0000-0001-7367-5816], Peshkin, Beth [0000-0002-2997-4701], Peterlongo, Paolo [0000-0001-6951-6855], Peto, Julian [0000-0002-1685-8912], Plaseska-Karanfilska, Dijana [0000-0001-8877-2416], Pylkäs, Katri [0000-0002-2449-0521], Radice, Paolo [0000-0001-6298-4111], Rennert, Gad [0000-0002-8512-068X], Robson, Mark [0000-0002-3109-1692], Romero, Atocha [0000-0002-1634-7397], Saloustros, Emmanouil [0000-0002-0485-0120], Scott, Christopher [0000-0003-1340-0647], Scott, Rodney J [0000-0001-7724-3404], Spurdle, Amanda B [0000-0003-1337-7897], Stone, Jennifer [0000-0001-5077-0124], Sutter, Christian [0000-0003-4051-5888], Tan, Yen Yen [0000-0003-1063-5352], Teixeira, Manuel R [0000-0002-4896-5982], Toland, Amanda E [0000-0002-0271-1792], Tomlinson, Ian [0000-0003-3037-1470], Viel, Alessandra [0000-0003-2804-0840], Vijai, Joseph [0000-0002-7933-151X], Wolk, Alicja [0000-0001-7387-6845], Yannoukakos, Drakoulis [0000-0001-7509-3510], Pharoah, Paul DP [0000-0001-8494-732X], Schmidt, Marjanka K [0000-0002-2228-429X], Milne, Roger L [0000-0001-5764-7268], Edwards, Stacey L [0000-0001-7428-4139], Simard, Jacques [0000-0001-6906-3390], Easton, Douglas F [0000-0003-2444-3247], Kraft, Peter [0000-0002-4472-8103], Dunning, Alison M [0000-0001-6651-7166], Apollo - University of Cambridge Repository, Academic Medical Center, ARD - Amsterdam Reproduction and Development, Human genetics, CCA - Cancer biology and immunology, Molecular cell biology and Immunology, Medicum, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, Doctoral Programme in Clinical Research, Staff Services, INDIVIDRUG - Individualized Drug Therapy, HUS Gynecology and Obstetrics, and Department of Obstetrics and Gynecology
Subjects: CHROMATIN, Linkage disequilibrium, Genome-wide association study, Regulatory Sequences, Nucleic Acid, Genome-wide association studies, Linkage Disequilibrium, Basic medicine, 0302 clinical medicine, Breast cancer, MESH: Risk Factors, Risk Factors, COMPREHENSIVE MOLECULAR PORTRAITS, 11 Medical and Health Sciences, HEBON Investigators, Genetics & Heredity, 0303 health sciences, [STAT.AP]Statistics [stat]/Applications [stat.AP], PROTEIN FUNCTION, Tumor, breast tumor, MESH: Polymorphism, Single Nucleotide, 1184 Genetics, developmental biology, physiology, MESH: Genetic Predisposition to Disease, apoptosis, Chromosome Mapping, Single Nucleotide, 3. Good health, MESH: Linkage Disequilibrium, Female, MESH: Biomarkers, Tumor, Biomarkers, Tumor/genetics, [STAT.ME]Statistics [stat]/Methodology [stat.ME], Life Sciences & Biomedicine, SUSCEPTIBILITY LOCI, MESH: Bayes Theorem, Quantitative Trait Loci, ABCTB Investigators, INTEGRATIVE ANALYSIS, Breast Neoplasms, Computational biology, Biology, Quantitative trait locus, Breast Neoplasms/genetics, Polymorphism, Single Nucleotide, Article, ENHANCER, GEMO Study Collaborators, 03 medical and health sciences, breast cancer, SDG 3 - Good Health and Well-being, REVEALS, Genetics, Biomarkers, Tumor, MESH: Regulatory Sequences, Nucleic Acid, Humans, Genetic Predisposition to Disease, Polymorphism, GENOME-WIDE ASSOCIATION, FUNCTIONAL VARIANTS, EMBRACE Collaborators, Gene, 030304 developmental biology, Genetic association, Bayes Theorem, Genome-Wide Association Study, MESH: Humans, Science & Technology, Nucleic Acid, gene mapping, 06 Biological Sciences, MESH: Quantitative Trait Loci, DNA binding site, ESTROGEN-RECEPTOR, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Clinical medicine, Expression quantitative trait loci, MESH: Genome-Wide Association Study, Human genome, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, KConFab Investigators, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], MESH: Chromosome Mapping, Chromosome Mapping/methods, Regulatory Sequences, MESH: Female, Biomarkers, 030217 neurology & neurosurgery, MESH: Breast Neoplasms, Developmental Biology
Abstract: Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes., This work was supported by the European Union’s Horizon 2020 Research and Innovation Programme under Marie Sklodowska-Curie grant agreement number 656144. Genotyping of the OncoArray was principally funded from three sources: the PERSPECTIVE project (funded by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the ‘Ministère de l’Économie de la Science et de l’Innovation du Québec’ (through Genome Québec) and the Quebec Breast Cancer Foundation); the NCI Genetic Associations and Mechanisms in Oncology (GAME-ON) initiative and the Discovery, Biology and Risk of Inherited Variants in Breast Cancer (DRIVE) project (NIH grants U19 CA148065 and X01HG007492); and Cancer Research UK (C1287/A10118, C8197/A16565 and C1287/A16563). BCAC is funded by Cancer Research UK (C1287/A16563), by the European Community’s Seventh Framework Programme under grant agreement 223175 (HEALTH-F2-2009-223175) (COGS) and by the European Union’s Horizon 2020 Research and Innovation Programme under grant agreements 633784 (B-CAST) and 634935 (BRIDGES). Genotyping of the iCOGS array was funded by the European Union (HEALTH-F2-2009-223175), Cancer Research UK (C1287/A10710), the Canadian Institutes of Health Research for the ‘CIHR Team in Familial Risks of Breast Cancer’ program, and the Ministry of Economic Development, Innovation and Export Trade of Quebec (grant PSR-SIIRI-701). Combining of the GWAS data was supported in part by NIH Cancer Post-Cancer GWAS initiative grant U19 CA 148065 (DRIVE; part of the GAME-ON initiative).
Published: 2020
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21. Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk.

Author: Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S, Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN, Isaacs C, Jakubowska A, James PA, Janavicius R, Jensen A, Johannsson OT, John EM, Jones ME, Kang D, Karlan BY, Karnezis A, Kelemen LE, Khusnutdinova E, Kiemeney LA, Kim BG, Kjaer SK, Komenaka I, Kupryjanczyk J, Kurian AW, Kwong A, Lambrechts D, Larson MC, Lazaro C, Le ND, Leslie G, Lester J, Lesueur F, Levine DA, Li L, Li J, Loud JT, Lu KH, Lubiński J, Mai PL, Manoukian S, Marks JR, Matsuno RK, Matsuo K, May T, McGuffog L, McLaughlin JR, McNeish IA, Mebirouk N, Menon U, Miller A, Milne RL, Minlikeeva A, Modugno F, Montagna M, Moysich KB, Munro E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nielsen HR, Nielsen FC, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade OI, Olson SH, Olsson H, Osorio A, Papi L, Park SK, Parsons MT, Pathak H, Pedersen IS, Peixoto A, Pejovic T, Perez-Segura P, Permuth JB, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan MJ, Risch HA, Rodriguez-Antona C, Ross E, Rossing MA, Runnebaum I, Sandler DP, Santamariña M, Soucy P, Schmutzler RK, Setiawan VW, Shan K, Sieh W, Simard J, Singer CF, Sokolenko AP, Song H, Southey MC, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow AJ, Tan YY, Teixeira MR, Teo SH, Terry KL, Terry MB, Thomassen M, Thompson PJ, Thomsen LCV, Thull DL, Tischkowitz M, Titus L, Toland AE, Torres D, Trabert B, Travis R, Tung N, Tworoger SS, Valen E, van Altena AM, van der Hout AH, Van Nieuwenhuysen E, van Rensburg EJ, Vega A, Edwards DV, Vierkant RA, Wang F, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, White E, Whittemore AS, Winham SJ, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Zavaglia KM, Zheng W, Ziogas A, Zorn KK, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers TA, Ramus SJ, Pearce CL, Monteiro AN, Cunningham J, Goode EL, Schildkraut JM, Berchuck A, Chenevix-Trench G, Gayther SA, Antoniou AC, and Pharoah PDP
Published: 2022
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22. Polygenic risk modeling for prediction of epithelial ovarian cancer risk.

Author: Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S, Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN, Isaacs C, Jakubowska A, James PA, Janavicius R, Jensen A, Johannsson OT, John EM, Jones ME, Kang D, Karlan BY, Karnezis A, Kelemen LE, Khusnutdinova E, Kiemeney LA, Kim BG, Kjaer SK, Komenaka I, Kupryjanczyk J, Kurian AW, Kwong A, Lambrechts D, Larson MC, Lazaro C, Le ND, Leslie G, Lester J, Lesueur F, Levine DA, Li L, Li J, Loud JT, Lu KH, Lubiński J, Mai PL, Manoukian S, Marks JR, Matsuno RK, Matsuo K, May T, McGuffog L, McLaughlin JR, McNeish IA, Mebirouk N, Menon U, Miller A, Milne RL, Minlikeeva A, Modugno F, Montagna M, Moysich KB, Munro E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nielsen HR, Nielsen FC, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade OI, Olson SH, Olsson H, Osorio A, Papi L, Park SK, Parsons MT, Pathak H, Pedersen IS, Peixoto A, Pejovic T, Perez-Segura P, Permuth JB, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan MJ, Risch HA, Rodriguez-Antona C, Ross E, Rossing MA, Runnebaum I, Sandler DP, Santamariña M, Soucy P, Schmutzler RK, Setiawan VW, Shan K, Sieh W, Simard J, Singer CF, Sokolenko AP, Song H, Southey MC, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow AJ, Tan YY, Teixeira MR, Teo SH, Terry KL, Terry MB, Thomassen M, Thompson PJ, Thomsen LCV, Thull DL, Tischkowitz M, Titus L, Toland AE, Torres D, Trabert B, Travis R, Tung N, Tworoger SS, Valen E, van Altena AM, van der Hout AH, Van Nieuwenhuysen E, van Rensburg EJ, Vega A, Edwards DV, Vierkant RA, Wang F, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, White E, Whittemore AS, Winham SJ, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Zavaglia KM, Zheng W, Ziogas A, Zorn KK, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers TA, Ramus SJ, Pearce CL, Monteiro AN, Cunningham J, Goode EL, Schildkraut JM, Berchuck A, Chenevix-Trench G, Gayther SA, Antoniou AC, and Pharoah PDP
Subjects: Bayes Theorem, Carcinoma, Ovarian Epithelial genetics, Female, Genetic Predisposition to Disease, Humans, Polymorphism, Single Nucleotide, Prospective Studies, Risk Factors, Breast Neoplasms, Ovarian Neoplasms epidemiology, Ovarian Neoplasms genetics
Abstract: Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard approaches of PRS construction. Here, we implemented computationally efficient, penalized, logistic regression models (lasso, elastic net, stepwise) to individual level genotype data and a Bayesian framework with continuous shrinkage, "select and shrink for summary statistics" (S4), to summary level data for epithelial non-mucinous ovarian cancer risk prediction. We developed the models in a dataset consisting of 23,564 non-mucinous EOC cases and 40,138 controls participating in the Ovarian Cancer Association Consortium (OCAC) and validated the best models in three populations of different ancestries: prospective data from 198,101 women of European ancestries; 7,669 women of East Asian ancestries; 1,072 women of African ancestries, and in 18,915 BRCA1 and 12,337 BRCA2 pathogenic variant carriers of European ancestries. In the external validation data, the model with the strongest association for non-mucinous EOC risk derived from the OCAC model development data was the S4 model (27,240 SNPs) with odds ratios (OR) of 1.38 (95% CI: 1.28-1.48, AUC: 0.588) per unit standard deviation, in women of European ancestries; 1.14 (95% CI: 1.08-1.19, AUC: 0.538) in women of East Asian ancestries; 1.38 (95% CI: 1.21-1.58, AUC: 0.593) in women of African ancestries; hazard ratios of 1.36 (95% CI: 1.29-1.43, AUC: 0.592) in BRCA1 pathogenic variant carriers and 1.49 (95% CI: 1.35-1.64, AUC: 0.624) in BRCA2 pathogenic variant carriers. Incorporation of the S4 PRS in risk prediction models for ovarian cancer may have clinical utility in ovarian cancer prevention programs., (© 2021. The Author(s).)
Published: 2022
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23. BRCA1 and sex ratio.

Author: Struewing JP, Hartge P, Wacholder S, Tucker MA, and Greene MH
Subjects: District of Columbia, Female, Genetic Testing, Humans, Jews genetics, Male, Pedigree, Breast Neoplasms genetics, Genes, BRCA1, Genes, BRCA2, Mutation genetics, Ovarian Neoplasms genetics, Sex Ratio
Abstract: Two recent papers suggest distorted sex and transmission ratios associated with BRCA1 mutations. If real, these would provide novel insights into the normal biological function of this gene and have implications for genetic epidemiologic methods used to estimate penetrance. We addressed these observations in two settings: offspring of 283 mutation carriers and 471 mutation negative subjects from BRCA1/2 mutation-positive families with multiple cases of breast and ovarian cancer (NCI families); and relatives of 115 BRCA1/2 mutation carriers from the Washington Ashkenazi Study (WAS). The male:female ratio was below one in both BRCA1 (0.85, 95% CI 0.7-1.1 in NCI families; 0.90, 95% CI 0.6-1.4 in WAS) and BRCA2 families (0.77, 95% CI 0.5-1.3 and 0.80, 95% CI 0.5-1.2, in the NCI and WAS study groups, respectively). None of the sex ratios deviated significantly from one, and there was no significant difference between BRCA1 and BRCA2 families. The reduced sex ratio was due largely to the offspring of males, a distortion that is probably an artifact of ascertainment biases. Among adult daughters without breast or ovarian cancer born to mutation carriers, as expected, fewer than 50% were mutation carriers (39% in BRCA1 families and 44% in BRCA2 families). It is difficult, due to ascertainment biases, to draw firm conclusions regarding sex ratios in studies of a sex-limited phenotype. Nonetheless, these observations do not support the idea that BRCA1 mutation carriers have a lower ratio of male offspring than BRCA2 mutation carriers.
Published: 2004
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23 results on '"Greene, Mark H"'

1. Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155

2. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

3. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

4. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

5. Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

6. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

7. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

8. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

9. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

10. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

11. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

12. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

13. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

14. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

15. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

16. Identification of six new susceptibility loci for invasive epithelial ovarian cancer

17. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

18. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

19. Detectable clonal mosaicism and its relationship to aging and cancer

20. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

21. Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk.

22. Polygenic risk modeling for prediction of epithelial ovarian cancer risk.

23. BRCA1 and sex ratio.

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