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1,051 results on '"Hart, Steven"'

151. Pathogenic Variants in Cancer Predisposition Genes and Prostate Cancer Risk in Men of African Ancestry

Author

Matejcic, Marco, primary, Patel, Yesha, additional, Lilyquist, Jenna, additional, Hu, Chunling, additional, Lee, Kun Y., additional, Gnanaolivu, Rohan D., additional, Hart, Steven N., additional, Polley, Eric C., additional, Yadav, Siddhartha, additional, Boddicker, Nicholas J., additional, Samara, Raed, additional, Xia, Lucy, additional, Sheng, Xin, additional, Lubmawa, Alexander, additional, Kiddu, Vicky, additional, Masaba, Benon, additional, Namuguzi, Dan, additional, Mutema, George, additional, Job, Kuteesa, additional, Dabanja, Henry M., additional, Ingles, Sue A., additional, Wilkens, Lynne, additional, Le Marchand, Loic, additional, Watya, Stephen, additional, Couch, Fergus J., additional, Conti, David V., additional, and Haiman, Christopher A., additional

Published
2020
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155. Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women

Author

Palmer, Julie R, primary, Polley, Eric C, additional, Hu, Chunling, additional, John, Esther M, additional, Haiman, Christopher, additional, Hart, Steven N, additional, Gaudet, Mia, additional, Pal, Tuya, additional, Anton-Culver, Hoda, additional, Trentham-Dietz, Amy, additional, Bernstein, Leslie, additional, Ambrosone, Christine B, additional, Bandera, Elisa V, additional, Bertrand, Kimberly A, additional, Bethea, Traci N, additional, Gao, Chi, additional, Gnanaolivu, Rohan D, additional, Huang, Hongyan, additional, Lee, Kun Y, additional, LeMarchand, Loic, additional, Na, Jie, additional, Sandler, Dale P, additional, Shah, Payal D, additional, Yadav, Siddhartha, additional, Yang, William, additional, Weitzel, Jeffrey N, additional, Domchek, Susan M, additional, Goldgar, David E, additional, Nathanson, Katherine L, additional, Kraft, Peter, additional, Yao, Song, additional, and Couch, Fergus J, additional

Published
2020
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156. Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer

Author

Yadav, Siddhartha, primary, Hu, Chunling, additional, Hart, Steven N., additional, Boddicker, Nicholas, additional, Polley, Eric C., additional, Na, Jie, additional, Gnanaolivu, Rohan, additional, Lee, Kun Y., additional, Lindstrom, Tricia, additional, Armasu, Sebastian, additional, Fitz-Gibbon, Patrick, additional, Ghosh, Karthik, additional, Stan, Daniela L., additional, Pruthi, Sandhya, additional, Neal, Lonzetta, additional, Sandhu, Nicole, additional, Rhodes, Deborah J., additional, Klassen, Christine, additional, Peethambaram, Prema P., additional, Haddad, Tufia C., additional, Olson, Janet E., additional, Hoskin, Tanya L., additional, Goetz, Matthew P., additional, Domchek, Susan M., additional, Boughey, Judy C., additional, Ruddy, Kathryn J., additional, and Couch, Fergus J., additional

Published
2020
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157. The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort

Author

Hu, Chunling, primary, Polley, Eric C, additional, Yadav, Siddhartha, additional, Lilyquist, Jenna, additional, Shimelis, Hermela, additional, Na, Jie, additional, Hart, Steven N, additional, Goldgar, David E, additional, Shah, Swati, additional, Pesaran, Tina, additional, Dolinsky, Jill S, additional, LaDuca, Holly, additional, and Couch, Fergus J, additional

Published
2020
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158. Abstract P6-08-04: Germline mutations in cancer predisposition genes in patients with invasive lobular carcinoma of the breast

Author

Yadav, Siddhartha, primary, LaDuca, Holly, additional, Polley, Eric C., additional, Hu, Chunling, additional, Hart, Steven N., additional, Na, Jie, additional, Gnanaolivu, Rohan, additional, Smith, Brandon, additional, Goldgar, David E, additional, Pesaran, Tina, additional, Dolinsky, Jill S., additional, and Couch, Fergus J., additional

Published
2020
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159. Abstract P6-08-01: Comparison of recommendations for germline genetic testing in an unselected cohort of patients with breast cancer

Author

Yadav, Siddhartha, primary, Hu, Chunling, additional, Hart, Steven N., additional, Boddicker, Nicholas, additional, Polley, Eric C., additional, Na, Jie, additional, Gnanaolivu, Rohan, additional, Lee, Kun Y., additional, Olson, Janet E., additional, Ruddy, Kathryn J., additional, and Couch, Fergus J., additional

Published
2020
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160. Abstract PD3-01: Population-based breast cancer risk estimates for predisposition gene mutations: Results from the CARRIERS study

Author

Couch, Fergus J, primary, Hu, Chunling, additional, Hart, Steven N, additional, Gnanaolivu, Rohan, additional, Lee, Kun Y, additional, Na, Jie, additional, Gao, Chi, additional, Boddicker, Nicholas J, additional, Eckloff, Bruce, additional, Samara, Raed, additional, Klebba, Josh, additional, Ambrosone, Christine B, additional, Anton-Culver, Hoda, additional, Auer, Paul, additional, Bernstein, Leslie, additional, Gaudet, Mia M, additional, Haiman, Christopher, additional, John, Esther M, additional, Neuhausen, Susan, additional, Olson, Janet E, additional, Pal, Tuya, additional, Palmer, Julie R, additional, Sandler, Dale P, additional, Taylor, Jack A, additional, Trentham-Dietz, Amy, additional, Vachon, Celine M, additional, Weinberg, Clarice, additional, Yao, Song, additional, Weitzel, Jeffrey N, additional, Goldgar, David E, additional, Domchek, Susan M, additional, Nathanson, Katherine L, additional, Kraft, Peter, additional, and Polley, Eric C, additional

Published
2020
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166. Mapping molecular subtype specific alterations in breast cancer brain metastases identifies clinically relevant vulnerabilities.

Author

Cosgrove, Nicola, Varešlija, Damir, Keelan, Stephen, Elangovan, Ashuvinee, Atkinson, Jennifer M., Cocchiglia, Sinéad, Bane, Fiona T., Singh, Vikrant, Furney, Simon, Hu, Chunling, Carter, Jodi M., Hart, Steven N., Yadav, Siddhartha, Goetz, Matthew P., Hill, Arnold D. K., Oesterreich, Steffi, Lee, Adrian V., Couch, Fergus J., and Young, Leonie S.

Subjects
GENE mapping, BREAST, BRAIN metastasis, BRAIN tumors, BREAST tumors
Abstract

The molecular events and transcriptional plasticity driving brain metastasis in clinically relevant breast tumor subtypes has not been determined. Here we comprehensively dissect genomic, transcriptomic and clinical data in patient-matched longitudinal tumor samples, and unravel distinct transcriptional programs enriched in brain metastasis. We report on subtype specific hub genes and functional processes, central to disease-affected networks in brain metastasis. Importantly, in luminal brain metastases we identify homologous recombination deficiency operative in transcriptomic and genomic data with recurrent breast mutational signatures A, F and K, associated with mismatch repair defects, TP53 mutations and homologous recombination deficiency (HRD) respectively. Utilizing PARP inhibition in patient-derived brain metastatic tumor explants we functionally validate HRD as a key vulnerability. Here, we demonstrate a functionally relevant HRD evident at genomic and transcriptomic levels pointing to genomic instability in breast cancer brain metastasis which is of potential translational significance. The molecular landscape of breast cancer brain metastases (BCBM) is still understudied, especially for different breast cancer subtypes. Here, the authors characterise subtype-specific BCBMs using genomics and transcriptomics and identify homologous recombination deficiency as a key therapeutic vulnerability. [ABSTRACT FROM AUTHOR]

Published
2022
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167. Genome-wide association study of germline variants and breast cancer-specific mortality

Author

Escala-Garcia, Maria, Guo, Qi, Dörk, Thilo, Canisius, Sander, Keeman, Renske, Dennis, Joe, Beesley, Jonathan, Lecarpentier, Julie, Bolla, Manjeet K, Wang, Qin, Abraham, Jean, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Auer, Paul L, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Boeckx, Bram, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brentnall, Adam, Brinton, Louise, Broberg, Per, Brock, Ian W, Brucker, Sara Y, Burwinkel, Barbara, Caldas, Carlos, Caldés, Trinidad, Campa, Daniele, Canzian, Federico, Carracedo, Angel, Carter, Brian D, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Cheng, Ting-Yuan David, Chin, Suet-Feung, Clarke, Christine L, NBCS Collaborators, Cordina-Duverger, Emilie, Couch, Fergus J, Cox, David G, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dunn, Janet A, Dunning, Alison M, Durcan, Lorraine, Dwek, Miriam, Earl, Helena M, Ekici, Arif B, Eliassen, A Heather, Ellberg, Carolina, Engel, Christoph, Eriksson, Mikael, Evans, D Gareth, Figueroa, Jonine, Flesch-Janys, Dieter, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Galle, Eva, Gapstur, Susan M, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, George, Angela, Georgoulias, Vassilios, Giles, Graham G, Glendon, Gord, Goldgar, David E, González-Neira, Anna, Alnæs, Grethe I Grenaker, Grip, Mervi, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hankinson, Susan, Harkness, Elaine F, Harrington, Patricia A, Hart, Steven N, Hartikainen, Jaana M, Hein, Alexander, Hillemanns, Peter, Hiller, Louise, Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Howell, Anthony, Huang, Guanmengqian, Humphreys, Keith, Hunter, David J, Janni, Wolfgang, John, Esther M, Jones, Michael E, Jukkola-Vuorinen, Arja, Jung, Audrey, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kerin, Michael J, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I, Kitahara, Cari M, Knight, Julia A, Ko, Yon-Dschun, Koppert, Linetta B, Kosma, Veli-Matti, Kraft, Peter, Kristensen, Vessela N, Krüger, Ute, Kühl, Tabea, Lambrechts, Diether, Le Marchand, Loic, Lee, Eunjung, Lejbkowicz, Flavio, Li, Lian, Lindblom, Annika, Lindström, Sara, Linet, Martha, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Lubiński, Jan, Lux, Michael P, MacInnis, Robert J, Maierthaler, Melanie, Maishman, Tom, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Mavroudis, Dimitrios, McLean, Catriona, Meindl, Alfons, Middha, Pooja, Miller, Nicola, Milne, Roger L, Moreno, Fernando, Mulligan, Anna Marie, Mulot, Claire, Nassir, Rami, Neuhausen, Susan L, Newman, William T, Nielsen, Sune F, Nordestgaard, Børge G, Norman, Aaron, Olsson, Håkan, Orr, Nick, Pankratz, V Shane, Park-Simon, Tjoung-Won, Perez, Jose IA, Pérez-Barrios, Clara, Peterlongo, Paolo, Petridis, Christos, Pinchev, Mila, Prajzendanc, Karoliona, Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Ramachandran, Dhanya, Rennert, Gadi, Rennert, Hedy S, Rhenius, Valerie, Romero, Atocha, Roylance, Rebecca, Saloustros, Emmanouil, Sawyer, Elinor J, Schmidt, Daniel F, Schmutzler, Rita K, Schneeweiss, Andreas, Schoemaker, Minouk J, Schumacher, Fredrick, Schwentner, Lukas, Scott, Rodney J, Scott, Christopher, Seynaeve, Caroline, Shah, Mitul, Simard, Jacques, Smeets, Ann, Sohn, Christof, Southey, Melissa C, Swerdlow, Anthony J, Talhouk, Aline, Tamimi, Rulla M, Tapper, William J, Teixeira, Manuel R, Tengström, Maria, Terry, Mary Beth, Thöne, Kathrin, Tollenaar, Rob AEM, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Turman, Constance, Turnbull, Clare, Ulmer, Hans-Ulrich, Untch, Michael, Vachon, Celine, van Asperen, Christi J, van den Ouweland, Ans MW, van Veen, Elke M, Wendt, Camilla, Whittemore, Alice S, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R, Zhang, Yan, Easton, Douglas F, Fasching, Peter A, Nevanlinna, Heli, Eccles, Diana M, Pharoah, Paul DP, Schmidt, Marjanka K, Dennis, Joe [0000-0003-4591-1214], Wang, Jean [0000-0002-9139-0627], Abraham, Jean [0000-0003-0688-4807], Caldas, Carlos [0000-0003-3547-1489], Chin, Suet-Feung [0000-0001-5697-1082], Dunning, Alison [0000-0001-6651-7166], Earl, Helena [0000-0003-1549-8094], Rhenius, Valerie [0000-0003-4215-3235], Easton, Douglas [0000-0003-2444-3247], Pharoah, Paul [0000-0001-8494-732X], and Apollo - University of Cambridge Repository

Subjects
Receptors, Estrogen, Genetic Variation, Humans, Bayes Theorem, Breast Neoplasms, Female, Prognosis, Chromosomes, Human, Pair 7, White People, Genome-Wide Association Study, Proportional Hazards Models
Abstract

BACKGROUND: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. METHODS: Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP). RESULTS: We did not find any variant associated with breast cancer-specific mortality at P

Published
2019

168. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

Author

Mavaddat, Nasim, Michailidou, Kyriaki, Dennis, Joe, Lush, Michael, Fachal, Laura, Lee, Andrew, Tyrer, Jonathan P., Chen, Ting-Huei, Wang, Qin, Bolla, Manjeet K., Yang, Xin, Adank, Muriel A., Ahearn, Thomas, Aittomaki, Kristiina, Allen, Jamie, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Auer, Paul L., Auvinen, Paivi, Barrdahl, Myrto, Freeman, Laura E. Beane, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bonanni, Bernardo, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Bremer, Michael, Brenner, Hermann, Brentnall, Adam, Brock, Ian W., Brooks-Wilson, Angela, Brucker, Sara Y., Bruening, Thomas, Burwinkel, Barbara, Campa, Daniele, Carter, Brian D., Castelao, Jose E., Chanock, Stephen J., Chlebowski, Rowan, Christiansen, Hans, Clarke, Christine L., Collee, J. Margriet, Cordina-Duverger, Emilie, Cornelissen, Sten, Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Doerk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Foersti, Asta, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, Gapstur, Susan M., Garcia-Saenz, Jose A., Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Gilyazova, Irina R., Glendon, Gord, Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Alnaes, Grethe I. Grenaker, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guenel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hamann, Ute, Hankinson, Susan E., Harkness, Elaine F., Hart, Steven N., He, Wei, Hein, Alexander, Heyworth, Jane, Hillemanns, Peter, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Huang, Guanmengqian, Humphreys, Keith, Hunter, David J., Jakimovska, Milena, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Johnson, Nichola, Jones, Michael E., Jukkola-Vuorinen, Arja, Jung, Audrey, Kaaks, Rudolf, Kaczmarek, Katarzyna, Kataja, Vesa, Keeman, Renske, Kerin, Michael J., Khusnutdinova, Elza, Kiiski, Johanna, I, Knight, Julia A., Ko, Yon-Dschun, Kosma, Veli-Matti, Koutros, Stella, Kristensen, Vessela N., Kruger, Ute, Kuehl, Tabea, Lambrechts, Diether, Le Marchand, Loic, Lee, Eunjung, Lejbkowicz, Flavio, Lilyquist, Jenna, Lindblom, Annika, Lindstrom, Sara, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Lubinski, Jan, Lux, Michael P., MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Martinez, Maria Elena, Mavroudis, Dimitrios, McLean, Catriona, Meindl, Alfons, Menon, Usha, Middha, Pooja, Miller, Nicola, Moreno, Fernando, Mulligan, Anna Marie, Mulot, Claire, Munoz-Garzon, Victor M., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Newman, William G., Nielsen, Sune F., Nordestgaard, Borge G., Norman, Aaron, Offit, Kenneth, Olson, Janet E., Olsson, Hakan, Orr, Nick, Pankratz, V. Shane, Park-Simon, Tjoung-Won, Perez, Jose I. A., Perez-Barrios, Clara, Peterlongo, Paolo, Peto, Julian, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Polley, Eric C., Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Purrington, Kristen, Pylkas, Katri, Rack, Brigitte, Radice, Paolo, Rau-Murthy, Rohini, Rennert, Gad, Rennert, Hedy S., Rhenius, Valerie, Robson, Mark, Romero, Atocha, Ruddy, Kathryn J., Ruebner, Matthias, Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schumacher, Fredrick, Schuermann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J., Seynaeve, Caroline, Shah, Mitul, Sherman, Mark E., Shrubsole, Martha J., Shu, Xiao-Ou, Slager, Susan, Smeets, Ann, Sohn, Christof, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Stegmaier, Christa, Stone, Jennifer, Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Terry, Mary Beth, Thoene, Kathrin, Tollenaar, Rob A. E. M., Tomlinson, Ian, Truong, Therese, Tzardi, Maria, Ulmer, Hans-Ulrich, Untch, Michael, Vachon, Celine M., van Veen, Elke M., Vijai, Joseph, Weinberg, Clarice R., Wendt, Camilla, Whittemore, Alice S., Wildiers, Hans, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zhang, Yan, Zheng, Wei, Ziogas, Argyrios, Clarke, Christine, 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, Sexton, Adrienne, Dobrovic, Alex, Christian, Alice, Trainer, Alison, Fellows, Andrew, Shelling, Andrew, De Fazio, Anna, Blackburn, Anneke, Crook, Ashley, Meiser, Bettina, Patterson, Briony, Clarke, Christobel, Saunders, Christobel, Hunt, Clare, Scott, Clare, Amor, David, Ortega, David Gallego, Marsh, Deb, Edkins, Edward, Salisbury, Elizabeth, Haan, Eric, Macrea, Finlay, Farshid, Gelareh, Lindeman, Geoff, Trench, Georgia, Mann, Graham, Giles, Graham, Gill, Grantley, Thorne, Heather, Campbell, Ian, Hickie, Ian, Caldon, Liz, Winship, Ingrid, Cui, James, Flanagan, James, Kollias, James, Visvader, Jane, Taylor, Jessica, Burke, Jo, Saunus, Jodi, Forbs, John, Hopper, John, Beesley, Jonathan, Kirk, Judy, French, Juliet, Tucker, Kathy, Wu, Kathy, Phillips, Kelly, Forrest, Laura, 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, Brown, Melissa, Southey, Melissa, Bogwitz, Michael, Field, Michael, Friedlander, Michael, Gattas, Michael, Saleh, Mona, Aghmesheh, Morteza, Hayward, Nick, Pachter, Nick, Cohen, Paul, Duijf, Pascal, James, Paul, Simpson, Pete, Fong, Peter, Butow, Phyllis, Williams, Rachael, Kefford, Rick, Simard, Jacques, Balleine, Rose-Mary, Dawson, Sarah-Jane, Lok, Sheau, O'connell, Shona, Greening, Sian, Nightingale, Sophie, Edwards, Stacey, Fox, Stephen, McLachlan, Sue-Anne, Lakhani, Sunil, Dudding, Tracy, Antill, Yoland, Sahlberg, Kristine K., Ottestad, Lars, Karesen, Rolf, Schlichting, Ellen, Holmen, Marit Muri, Sauer, Toril, Haakensen, Vilde, Engebraten, Olav, Naume, Bjorn, Fossa, Alexander, Kiserud, Cecile E., Reinertsen, Kristin, V, Helland, Aslaug, Riis, Margit, Geisler, Juergen, Dunning, Alison M., Thompson, Deborah J., Chenevix-Trench, Georgia, Chang-Claude, Jenny, Schmidt, Marjanka K., Hall, Per, Milne, Roger L., Pharoah, Paul D. P., Antoniou, Antonis C., Chatterjee, Nilanjan, Kraft, Peter, Garcia-Closas, Montserrat, Easton, Douglas F., Mavaddat, Nasim, Michailidou, Kyriaki, Dennis, Joe, Lush, Michael, Fachal, Laura, Lee, Andrew, Tyrer, Jonathan P., Chen, Ting-Huei, Wang, Qin, Bolla, Manjeet K., Yang, Xin, Adank, Muriel A., Ahearn, Thomas, Aittomaki, Kristiina, Allen, Jamie, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Auer, Paul L., Auvinen, Paivi, Barrdahl, Myrto, Freeman, Laura E. Beane, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bonanni, Bernardo, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Bremer, Michael, Brenner, Hermann, Brentnall, Adam, Brock, Ian W., Brooks-Wilson, Angela, Brucker, Sara Y., Bruening, Thomas, Burwinkel, Barbara, Campa, Daniele, Carter, Brian D., Castelao, Jose E., Chanock, Stephen J., Chlebowski, Rowan, Christiansen, Hans, Clarke, Christine L., Collee, J. Margriet, Cordina-Duverger, Emilie, Cornelissen, Sten, Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Doerk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Foersti, Asta, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, Gapstur, Susan M., Garcia-Saenz, Jose A., Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Gilyazova, Irina R., Glendon, Gord, Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Alnaes, Grethe I. Grenaker, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guenel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hamann, Ute, Hankinson, Susan E., Harkness, Elaine F., Hart, Steven N., He, Wei, Hein, Alexander, Heyworth, Jane, Hillemanns, Peter, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Huang, Guanmengqian, Humphreys, Keith, Hunter, David J., Jakimovska, Milena, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Johnson, Nichola, Jones, Michael E., Jukkola-Vuorinen, Arja, Jung, Audrey, Kaaks, Rudolf, Kaczmarek, Katarzyna, Kataja, Vesa, Keeman, Renske, Kerin, Michael J., Khusnutdinova, Elza, Kiiski, Johanna, I, Knight, Julia A., Ko, Yon-Dschun, Kosma, Veli-Matti, Koutros, Stella, Kristensen, Vessela N., Kruger, Ute, Kuehl, Tabea, Lambrechts, Diether, Le Marchand, Loic, Lee, Eunjung, Lejbkowicz, Flavio, Lilyquist, Jenna, Lindblom, Annika, Lindstrom, Sara, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Lubinski, Jan, Lux, Michael P., MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Martinez, Maria Elena, Mavroudis, Dimitrios, McLean, Catriona, Meindl, Alfons, Menon, Usha, Middha, Pooja, Miller, Nicola, Moreno, Fernando, Mulligan, Anna Marie, Mulot, Claire, Munoz-Garzon, Victor M., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Newman, William G., Nielsen, Sune F., Nordestgaard, Borge G., Norman, Aaron, Offit, Kenneth, Olson, Janet E., Olsson, Hakan, Orr, Nick, Pankratz, V. Shane, Park-Simon, Tjoung-Won, Perez, Jose I. A., Perez-Barrios, Clara, Peterlongo, Paolo, Peto, Julian, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Polley, Eric C., Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Purrington, Kristen, Pylkas, Katri, Rack, Brigitte, Radice, Paolo, Rau-Murthy, Rohini, Rennert, Gad, Rennert, Hedy S., Rhenius, Valerie, Robson, Mark, Romero, Atocha, Ruddy, Kathryn J., Ruebner, Matthias, Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schumacher, Fredrick, Schuermann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J., Seynaeve, Caroline, Shah, Mitul, Sherman, Mark E., Shrubsole, Martha J., Shu, Xiao-Ou, Slager, Susan, Smeets, Ann, Sohn, Christof, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Stegmaier, Christa, Stone, Jennifer, Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Terry, Mary Beth, Thoene, Kathrin, Tollenaar, Rob A. E. M., Tomlinson, Ian, Truong, Therese, Tzardi, Maria, Ulmer, Hans-Ulrich, Untch, Michael, Vachon, Celine M., van Veen, Elke M., Vijai, Joseph, Weinberg, Clarice R., Wendt, Camilla, Whittemore, Alice S., Wildiers, Hans, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zhang, Yan, Zheng, Wei, Ziogas, Argyrios, Clarke, Christine, 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, Sexton, Adrienne, Dobrovic, Alex, Christian, Alice, Trainer, Alison, Fellows, Andrew, Shelling, Andrew, De Fazio, Anna, Blackburn, Anneke, Crook, Ashley, Meiser, Bettina, Patterson, Briony, Clarke, Christobel, Saunders, Christobel, Hunt, Clare, Scott, Clare, Amor, David, Ortega, David Gallego, Marsh, Deb, Edkins, Edward, Salisbury, Elizabeth, Haan, Eric, Macrea, Finlay, Farshid, Gelareh, Lindeman, Geoff, Trench, Georgia, Mann, Graham, Giles, Graham, Gill, Grantley, Thorne, Heather, Campbell, Ian, Hickie, Ian, Caldon, Liz, Winship, Ingrid, Cui, James, Flanagan, James, Kollias, James, Visvader, Jane, Taylor, Jessica, Burke, Jo, Saunus, Jodi, Forbs, John, Hopper, John, Beesley, Jonathan, Kirk, Judy, French, Juliet, Tucker, Kathy, Wu, Kathy, Phillips, Kelly, Forrest, Laura, 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, Brown, Melissa, Southey, Melissa, Bogwitz, Michael, Field, Michael, Friedlander, Michael, Gattas, Michael, Saleh, Mona, Aghmesheh, Morteza, Hayward, Nick, Pachter, Nick, Cohen, Paul, Duijf, Pascal, James, Paul, Simpson, Pete, Fong, Peter, Butow, Phyllis, Williams, Rachael, Kefford, Rick, Simard, Jacques, Balleine, Rose-Mary, Dawson, Sarah-Jane, Lok, Sheau, O'connell, Shona, Greening, Sian, Nightingale, Sophie, Edwards, Stacey, Fox, Stephen, McLachlan, Sue-Anne, Lakhani, Sunil, Dudding, Tracy, Antill, Yoland, Sahlberg, Kristine K., Ottestad, Lars, Karesen, Rolf, Schlichting, Ellen, Holmen, Marit Muri, Sauer, Toril, Haakensen, Vilde, Engebraten, Olav, Naume, Bjorn, Fossa, Alexander, Kiserud, Cecile E., Reinertsen, Kristin, V, Helland, Aslaug, Riis, Margit, Geisler, Juergen, Dunning, Alison M., Thompson, Deborah J., Chenevix-Trench, Georgia, Chang-Claude, Jenny, Schmidt, Marjanka K., Hall, Per, Milne, Roger L., Pharoah, Paul D. P., Antoniou, Antonis C., Chatterjee, Nilanjan, Kraft, Peter, Garcia-Closas, Montserrat, and Easton, Douglas F.

Abstract

Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies, divided into training and validation sets. Samples were genotyped using genome-wide arrays, and single-nucleotide polymorphisms (SNPs) were selected by stepwise regression or lasso penalized regression. The best performing PRSs were validated in an independent test set comprising 11,428 case subjects and 18,323 control subjects from 10 prospective studies and 190,040 women from UK Biobank (3,215 incident breast cancers). For the best PRSs (313 SNPs), the odds ratio for overall disease per 1 standard deviation in ten prospective studies was 1.61 (95%CI: 1.57-1.65) with area under receiver-operator curve (AUC) = 0.630 (95%CI: 0.628-0.651). The lifetime risk of overall breast cancer in the top centile of the PRSs was 32.6%. Compared with women in the middle quintile, those in the highest 1% of risk had 4.37- and 2.78-fold risks, and those in the lowest 1% of risk had 0.16- and 0.27-fold risks, of developing ER-positive and ER-negative disease, respectively. Goodness-of-fit tests indicated that this PRS was well calibrated and predicts disease risk accurately in the tails of the distribution. This PRS is a powerful and reliable predictor of breast cancer risk that may improve breast cancer prevention programs.

Published
2019

169. Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer.

Author

Yadav, Siddhartha, LaDuca, Holly, Polley, Eric C, Hu, Chunling, Niguidula, Nancy, Shimelis, Hermela, Lilyquist, Jenna, Na, Jie, Lee, Kun Y, Gutierrez, Stephanie, Yussuf, Amal, Hart, Steven N, Davis, Brigette Tippin, Chao, Elizabeth C, Pesaran, Tina, Goldgar, David E, Dolinsky, Jill S, and Couch, Fergus J

Subjects
ETHNIC differences, BREAST cancer, RACIAL differences, HEREDITARY cancer syndromes, ODDS ratio
Abstract

To evaluate the racial and ethnic differences in prevalence of germline pathogenic variants (PVs) and the effect of race and ethnicity on breast cancer (BC) risk among carriers, results of multigene testing of 77 900 women with BC (non-Hispanic White [NHW] = 57 003; Ashkenazi-Jewish = 4798; Black = 6722; Hispanic = 5194; and Asian = 4183) were analyzed, and the frequency of PVs in each gene were compared between BC patients (cases) and race- and ethnicity-matched gnomAD reference controls. Compared with NHWs, BRCA1 PVs were enriched in Ashkenazi-Jews and Hispanics, whereas CHEK2 PVs were statistically significantly lower in Blacks, Hispanics, and Asians (all 2-sided P < .05). In case-control studies, BARD1 PVs were associated with high risks (odds ratio > 4.00) of BC in Blacks, Hispanics, and Asians; ATM PVs were associated with increased risk of BC among all races and ethnicities except Asians, whereas CHEK2 and BRIP1 PVs were associated with increased risk of BC among NHWs and Hispanics only. These findings suggest a need for personalized management of BC risk in PV carriers based on race and ethnicity. [ABSTRACT FROM AUTHOR]

Published
2021
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176. Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy

Author

Kendig, Katherine I., primary, Baheti, Saurabh, additional, Bockol, Matthew A., additional, Drucker, Travis M., additional, Hart, Steven N., additional, Heldenbrand, Jacob R., additional, Hernaez, Mikel, additional, Hudson, Matthew E., additional, Kalmbach, Michael T., additional, Klee, Eric W., additional, Mattson, Nathan R., additional, Ross, Christian A., additional, Taschuk, Morgan, additional, Wieben, Eric D., additional, Wiepert, Mathieu, additional, Wildman, Derek E., additional, and Mainzer, Liudmila S., additional

Published
2019
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178. Abstract 4169: Population-based breast cancer risk estimates associated with cancer predisposition gene mutations from 32,298 breast cancer patients and 31,869 matched unaffected controls from the CARRIERS study

Author

Couch, Fergus J., primary, Hu, Chunling, additional, Hart, Steven N., additional, Gnanaolivu, Rohan, additional, Lilyquist, Jenna, additional, Lee, Kun Y., additional, Gao, Chi, additional, Eckloff, Bruce, additional, Anton-Culver, Hoda, additional, Auer, Paul, additional, Bernstein, Leslie, additional, Gaudet, Mia, additional, Haiman, Christopher, additional, Palmer, Julie, additional, Tentham-Dietz, Amy, additional, Yao, Song, additional, Domchek, Susan, additional, Weitzel, Jeffrey N., additional, Goldgar, David E., additional, Nathanson, Katherine L., additional, Kraft, Peter, additional, and Polley, Eric C., additional

Published
2019
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179. Abstract 4177: The joint effects of polygenic risk scores and pathogenic variants in cancer predisposition genes on breast cancer risk in the general population: results from the CARRIERS study

Author

Gao, Chi, primary, Hu, Chunling, additional, Hart, Steven N., additional, Gnanaolivu, Rohan, additional, Lee, Kun Y., additional, Lilyquist, Jenna, additional, Boddicker, Nicholas J., additional, Eckloff, Bruce, additional, Samara, Raed, additional, Klebba, Josh, additional, Auer, Paul, additional, Bernstein, Leslie, additional, Gaudet, Mia, additional, Anton-Culver, Hoda, additional, Trentham-Dietz, Amy, additional, Palmer, Julie R., additional, Yao, Song, additional, Haiman, Christopher, additional, Olson, Janet E., additional, Domchek, Susan, additional, Weitzel, Jeffrey, additional, Goldgar, David, additional, Nathanson, Katherine L., additional, Polley, Eric C., additional, Couch, Fergus J., additional, and Kraft, Peter, additional

Published
2019
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181. Genetic predisposition to breast cancer among African American women.

Author

Palmer, Julie R, primary, Hu, Chunling, additional, Hart, Steven, additional, Gnanaolivu, Rohan David, additional, Gao, Chi, additional, Anton-Culver, Hoda, additional, Trentham-Dietz, Amy, additional, Bernstein, Leslie, additional, Weitzel, Jeffrey N., additional, Domchek, Susan M., additional, Goldgar, David, additional, Nathanson, Katherine, additional, Pal, Tuya, additional, John, Esther M, additional, Gaudet, Mia, additional, Haiman, Christopher, additional, Yao, Song, additional, Kraft, Peter, additional, Polley, Eric, additional, and Couch, Fergus, additional

Published
2019
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182. Racial and ethnic differences in the results of multigene panel testing of inherited cancer predisposition genes in breast cancer patients.

Author

Yadav, Siddhartha, primary, LaDuca, Holly, additional, Polley, Eric, additional, Shimelis, Hermela, additional, Niguidula, Nancy, additional, Hu, Chunling, additional, Lilyquist, Jenna, additional, Na, Jie, additional, Lee, Kun, additional, Gutierrez, Stephanie, additional, Yussuf, Amal, additional, Hart, Steven, additional, Tippin Davis, Brigette, additional, Chao, Elizabeth, additional, Pesaran, Tina, additional, Goldgar, David, additional, Dolinsky, Jill S., additional, and Couch, Fergus, additional

Published
2019
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185. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

Author

Mavaddat, Nasim, primary, Michailidou, Kyriaki, additional, Dennis, Joe, additional, Lush, Michael, additional, Fachal, Laura, additional, Lee, Andrew, additional, Tyrer, Jonathan P., additional, Chen, Ting-Huei, additional, Wang, Qin, additional, Bolla, Manjeet K., additional, Yang, Xin, additional, Adank, Muriel A., additional, Ahearn, Thomas, additional, Aittomäki, Kristiina, additional, Allen, Jamie, additional, Andrulis, Irene L., additional, Anton-Culver, Hoda, additional, Antonenkova, Natalia N., additional, Arndt, Volker, additional, Aronson, Kristan J., additional, Auer, Paul L., additional, Auvinen, Päivi, additional, Barrdahl, Myrto, additional, Beane Freeman, Laura E., additional, Beckmann, Matthias W., additional, Behrens, Sabine, additional, Benitez, Javier, additional, Bermisheva, Marina, additional, Bernstein, Leslie, additional, Blomqvist, Carl, additional, Bogdanova, Natalia V., additional, Bojesen, Stig E., additional, Bonanni, Bernardo, additional, Børresen-Dale, Anne-Lise, additional, Brauch, Hiltrud, additional, Bremer, Michael, additional, Brenner, Hermann, additional, Brentnall, Adam, additional, Brock, Ian W., additional, Brooks-Wilson, Angela, additional, Brucker, Sara Y., additional, Brüning, Thomas, additional, Burwinkel, Barbara, additional, Campa, Daniele, additional, Carter, Brian D., additional, Castelao, Jose E., additional, Chanock, Stephen J., additional, Chlebowski, Rowan, additional, Christiansen, Hans, additional, Clarke, Christine L., additional, Collée, J. Margriet, additional, Cordina-Duverger, Emilie, additional, Cornelissen, Sten, additional, Couch, Fergus J., additional, Cox, Angela, additional, Cross, Simon S., additional, Czene, Kamila, additional, Daly, Mary B., additional, Devilee, Peter, additional, Dörk, Thilo, additional, dos-Santos-Silva, Isabel, additional, Dumont, Martine, additional, Durcan, Lorraine, additional, Dwek, Miriam, additional, Eccles, Diana M., additional, Ekici, Arif B., additional, Eliassen, A. Heather, additional, Ellberg, Carolina, additional, Engel, Christoph, additional, Eriksson, Mikael, additional, Evans, D. Gareth, additional, Fasching, Peter A., additional, Figueroa, Jonine, additional, Fletcher, Olivia, additional, Flyger, Henrik, additional, Försti, Asta, additional, Fritschi, Lin, additional, Gabrielson, Marike, additional, Gago-Dominguez, Manuela, additional, Gapstur, Susan M., additional, García-Sáenz, José A., additional, Gaudet, Mia M., additional, Georgoulias, Vassilios, additional, Giles, Graham G., additional, Gilyazova, Irina R., additional, Glendon, Gord, additional, Goldberg, Mark S., additional, Goldgar, David E., additional, González-Neira, Anna, additional, Grenaker Alnæs, Grethe I., additional, Grip, Mervi, additional, Gronwald, Jacek, additional, Grundy, Anne, additional, Guénel, Pascal, additional, Haeberle, Lothar, additional, Hahnen, Eric, additional, Haiman, Christopher A., additional, Håkansson, Niclas, additional, Hamann, Ute, additional, Hankinson, Susan E., additional, Harkness, Elaine F., additional, Hart, Steven N., additional, He, Wei, additional, Hein, Alexander, additional, Heyworth, Jane, additional, Hillemanns, Peter, additional, Hollestelle, Antoinette, additional, Hooning, Maartje J., additional, Hoover, Robert N., additional, Hopper, John L., additional, Howell, Anthony, additional, Huang, Guanmengqian, additional, Humphreys, Keith, additional, Hunter, David J., additional, Jakimovska, Milena, additional, Jakubowska, Anna, additional, Janni, Wolfgang, additional, John, Esther M., additional, Johnson, Nichola, additional, Jones, Michael E., additional, Jukkola-Vuorinen, Arja, additional, Jung, Audrey, additional, Kaaks, Rudolf, additional, Kaczmarek, Katarzyna, additional, Kataja, Vesa, additional, Keeman, Renske, additional, Kerin, Michael J., additional, Khusnutdinova, Elza, additional, Kiiski, Johanna I., additional, Knight, Julia A., additional, Ko, Yon-Dschun, additional, Kosma, Veli-Matti, additional, Koutros, Stella, additional, Kristensen, Vessela N., additional, Krüger, Ute, additional, Kühl, Tabea, additional, Lambrechts, Diether, additional, Le Marchand, Loic, additional, Lee, Eunjung, additional, Lejbkowicz, Flavio, additional, Lilyquist, Jenna, additional, Lindblom, Annika, additional, Lindström, Sara, additional, Lissowska, Jolanta, additional, Lo, Wing-Yee, additional, Loibl, Sibylle, additional, Long, Jirong, additional, Lubiński, Jan, additional, Lux, Michael P., additional, MacInnis, Robert J., additional, Maishman, Tom, additional, Makalic, Enes, additional, Maleva Kostovska, Ivana, additional, Mannermaa, Arto, additional, Manoukian, Siranoush, additional, Margolin, Sara, additional, Martens, John W.M., additional, Martinez, Maria Elena, additional, Mavroudis, Dimitrios, additional, McLean, Catriona, additional, Meindl, Alfons, additional, Menon, Usha, additional, Middha, Pooja, additional, Miller, Nicola, additional, Moreno, Fernando, additional, Mulligan, Anna Marie, additional, Mulot, Claire, additional, Muñoz-Garzon, Victor M., additional, Neuhausen, Susan L., additional, Nevanlinna, Heli, additional, Neven, Patrick, additional, Newman, William G., additional, Nielsen, Sune F., additional, Nordestgaard, Børge G., additional, Norman, Aaron, additional, Offit, Kenneth, additional, Olson, Janet E., additional, Olsson, Håkan, additional, Orr, Nick, additional, Pankratz, V. Shane, additional, Park-Simon, Tjoung-Won, additional, Perez, Jose I.A., additional, Pérez-Barrios, Clara, additional, Peterlongo, Paolo, additional, Peto, Julian, additional, Pinchev, Mila, additional, Plaseska-Karanfilska, Dijana, additional, Polley, Eric C., additional, Prentice, Ross, additional, Presneau, Nadege, additional, Prokofyeva, Darya, additional, Purrington, Kristen, additional, Pylkäs, Katri, additional, Rack, Brigitte, additional, Radice, Paolo, additional, Rau-Murthy, Rohini, additional, Rennert, Gad, additional, Rennert, Hedy S., additional, Rhenius, Valerie, additional, Robson, Mark, additional, Romero, Atocha, additional, Ruddy, Kathryn J., additional, Ruebner, Matthias, additional, Saloustros, Emmanouil, additional, Sandler, Dale P., additional, Sawyer, Elinor J., additional, Schmidt, Daniel F., additional, Schmutzler, Rita K., additional, Schneeweiss, Andreas, additional, Schoemaker, Minouk J., additional, Schumacher, Fredrick, additional, Schürmann, Peter, additional, Schwentner, Lukas, additional, Scott, Christopher, additional, Scott, Rodney J., additional, Seynaeve, Caroline, additional, Shah, Mitul, additional, Sherman, Mark E., additional, Shrubsole, Martha J., additional, Shu, Xiao-Ou, additional, Slager, Susan, additional, Smeets, Ann, additional, Sohn, Christof, additional, Soucy, Penny, additional, Southey, Melissa C., additional, Spinelli, John J., additional, Stegmaier, Christa, additional, Stone, Jennifer, additional, Swerdlow, Anthony J., additional, Tamimi, Rulla M., additional, Tapper, William J., additional, Taylor, Jack A., additional, Terry, Mary Beth, additional, Thöne, Kathrin, additional, Tollenaar, Rob A.E.M., additional, Tomlinson, Ian, additional, Truong, Thérèse, additional, Tzardi, Maria, additional, Ulmer, Hans-Ulrich, additional, Untch, Michael, additional, Vachon, Celine M., additional, van Veen, Elke M., additional, Vijai, Joseph, additional, Weinberg, Clarice R., additional, Wendt, Camilla, additional, Whittemore, Alice S., additional, Wildiers, Hans, additional, Willett, Walter, additional, Winqvist, Robert, additional, Wolk, Alicja, additional, Yang, Xiaohong R., additional, Yannoukakos, Drakoulis, additional, Zhang, Yan, additional, Zheng, Wei, additional, Ziogas, Argyrios, additional, Dunning, Alison M., additional, Thompson, Deborah J., additional, Chenevix-Trench, Georgia, additional, Chang-Claude, Jenny, additional, Schmidt, Marjanka K., additional, Hall, Per, additional, Milne, Roger L., additional, Pharoah, Paul D.P., additional, Antoniou, Antonis C., additional, Chatterjee, Nilanjan, additional, Kraft, Peter, additional, García-Closas, Montserrat, additional, Simard, Jacques, additional, and Easton, Douglas F., additional

Published
2019
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186. Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study

Author

Dixon-Suen, Suzanne C, Lewis, Sarah J, Martin, Richard M, English, Dallas R, Boyle, Terry, Giles, Graham G, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Lush, Michael, Investigators, ABCTB, Ahearn, Thomas U, Ambrosone, Christine B, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Auvinen, Pa¨ivi, Beane Freeman, Laura E, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Brenner, Hermann, Bru¨ning, Thomas, Buys, Saundra S, Camp, Nicola J, Campa, Daniele, Canzian, Federico, Castelao, Jose E, Cessna, Melissa H, Chang-Claude, Jenny, Chanock, Stephen J, Clarke, Christine L, Conroy, Don M, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Do¨rk, Thilo, Dwek, Miriam, Eccles, Diana M, Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A, Goldberg, Mark S, Guénel, Pascal, Gu¨ndert, Melanie, Hahnen, Eric, Haiman, Christopher A, Ha¨berle, Lothar, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hart, Steven N, Harvie, Michelle, Hillemanns, Peter, Hollestelle, Antoinette, Hooning, Maartje J, Hoppe, Reiner, Hopper, John, Howell, Anthony, Hunter, David J, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jung, Audrey, Kaaks, Rudolf, Keeman, Renske, Kitahara, Cari M, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kubelka-Sabit, Katerina, Kurian, Allison W, Lacey, James V, Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Loibl, Sibylle, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, Mavroudis, Dimitrios, Menon, Usha, Mulligan, Anna Marie, Murphy, Rachel A, Collaborators, NBCS, Nevanlinna, Heli, Nevelsteen, Ines, Newman, William G, Offit, Kenneth, Olshan, Andrew F, Olsson, Håkan, Orr, Nick, Patel, Alpa, Peto, Julian, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Rack, Brigitte, Radice, Paolo, Rees-Punia, Erika, Rennert, Gad, Rennert, Hedy S, Romero, Atocha, Saloustros, Emmanouil, Sandler, Dale P, Schmidt, Marjanka K, Schmutzler, Rita K, Schwentner, Lukas, Scott, Christopher, Shah, Mitul, Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C, Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Terry, Mary Beth, Tollenaar, Rob A E M, Troester, Melissa A, Truong, Thérèse, Untch, Michael, Vachon, Celine M, Joseph, Vijai, Wappenschmidt, Barbara, Weinberg, Clarice R, Wolk, Alicja, Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M, Pharoah, Paul D P, Easton, Douglas F, Milne, Roger L, and Lynch, Brigid M

Abstract

ObjectivesPhysical inactivity and sedentary behaviour are associated with higher breast cancer risk in observational studies, but ascribing causality is difficult. Mendelian randomisation (MR) assesses causality by simulating randomised trial groups using genotype. We assessed whether lifelong physical activity or sedentary time, assessed using genotype, may be causally associated with breast cancer risk overall, pre/post-menopause, and by case-groups defined by tumour characteristics.MethodsWe performed two-sample inverse-variance-weighted MR using individual-level Breast Cancer Association Consortium case-control data from 130 957 European-ancestry women (69 838 invasive cases), and published UK Biobank data (n=91 105–377 234). Genetic instruments were single nucleotide polymorphisms (SNPs) associated in UK Biobank with wrist-worn accelerometer-measured overall physical activity (nsnps=5) or sedentary time (nsnps=6), or accelerometer-measured (nsnps=1) or self-reported (nsnps=5) vigorous physical activity.ResultsGreater genetically-predicted overall activity was associated with lower breast cancer overall risk (OR=0.59; 95% confidence interval (CI) 0.42 to 0.83 per-standard deviation (SD;~8 milligravities acceleration)) and for most case-groups. Genetically-predicted vigorous activity was associated with lower risk of pre/perimenopausal breast cancer (OR=0.62; 95% CI 0.45 to 0.87,≥3 vs. 0 self-reported days/week), with consistent estimates for most case-groups. Greater genetically-predicted sedentary time was associated with higher hormone-receptor-negative tumour risk (OR=1.77; 95% CI 1.07 to 2.92 per-SD (~7% time spent sedentary)), with elevated estimates for most case-groups. Results were robust to sensitivity analyses examining pleiotropy (including weighted-median-MR, MR-Egger).ConclusionOur study provides strong evidence that greater overall physical activity, greater vigorous activity, and lower sedentary time are likely to reduce breast cancer risk. More widespread adoption of active lifestyles may reduce the burden from the most common cancer in women.

Published
2022
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189. Mutations in and Other Panel Genes in Patients With Metastatic Breast Cancer -Association With Patient and Disease Characteristics and Effect on Prognosis.

Author

Fasching, Peter A, Yadav, Siddhartha, Hu, Chunling, Wunderle, Marius, Häberle, Lothar, Hart, Steven N, Rübner, Matthias, Polley, Eric C, Lee, Kun Y, Gnanaolivu, Rohan D, Hadji, Peyman, Hübner, Hanna, Tesch, Hans, Ettl, Johannes, Overkamp, Friedrich, Lux, Michael P, Ekici, Arif B, Volz, Bernhard, Uhrig, Sabrina, and Lüftner, Diana

Published
2021
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190. Dicom_wsi: A Python Implementation for Converting Whole-Slide Images to Digital Imaging and Communications in Medicine Compliant Files.

Author

Qiangqiang Gu, Prodduturi, Naresh, Jun Jiang, Flotte, Thomas J., and Hart, Steven N.

Subjects
DIGITAL communications, DIGITAL image processing, MEDICAL communication, PYTHON programming language, DIGITAL technology, DICOM (Computer network protocol)
Abstract

Background: Adoption of the Digital Imaging and Communications in Medicine (DICOM) standard for whole slide images (WSIs) has been slow, despite significant time and effort by standards curators. One reason for the lack of adoption is that there are few tools which exist that can meet the requirements of WSIs, given an evolving ecosystem of best practices for implementation. Eventually, vendors will conform to the specification to ensure enterprise interoperability, but what about archived slides? Millions of slides have been scanned in various proprietary formats, many with examples of rare histologies. Our hypothesis is that if users and developers had access to easy to use tools for migrating proprietary formats to the open DICOM standard, then more tools would be developed as DICOM first implementations. Methods: The technology we present here is dicom_wsi, a Python based toolkit for converting any slide capable of being read by the OpenSlide library into DICOM conformant and validated implementations. Moreover, additional postprocessing such as background removal, digital transformations (e.g., ink removal), and annotation storage are also described. dicom_wsi is a free and open source implementation that anyone can use or modify to meet their specific purposes. Results: We compare the output of dicom_wsi to two other existing implementations of WSI to DICOM converters and also validate the images using DICOM capable image viewers. Conclusion: dicom_wsi represents the first step in a long process of DICOM adoption for WSI. It is the first open source implementation released in the developer friendly Python programming language and can be freely downloaded at https://github.com/Steven N Hart/dicom_wsi. [ABSTRACT FROM AUTHOR]

Published
2021
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191. Whole‐exome sequencing of non‐BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer.

Author

Felicio, Paula S., Grasel, Rebeca S., Campacci, Natalia, Paula, Andre E., Galvão, Henrique C. R., Torrezan, Giovana T., Sabato, Cristina S., Fernandes, Gabriela C., Souza, Cristiano P., Michelli, Rodrigo D., Andrade, Carlos E., Barros, Bruna Durães De Figueiredo, Matsushita, Marcus M., Revil, Timothée, Ragoussis, Jiannis, Couch, Fergus J., Hart, Steven N., Reis, Rui M., Melendez, Matias E., and Tonin, Patricia N.

Abstract

The current study aimed to identify new breast and/or ovarian cancer predisposition genes. For that, whole‐exome sequencing (WES) was performed in the germline DNA of 52 non‐BRCA1/BRCA2/TP53 mutation carrier women at high‐risk for hereditary breast and ovarian cancer (HBOC). All variants were classified using information from population and disease specific databases, in silico prediction tools and the American College of Medical Genetics and Genomics (ACMG) criteria. Loss of heterozygosity (LOH) of tumor samples and segregation analyses were performed whenever possible. The variants identified were investigated in a second, independent cohort of 17 BC cases. Pathogenic/Likely Pathogenic variants were identified in known cancer genes such as CHEK2, MUTYH, PMS2, and RAD51C. Rare and potentially pathogenic variants were identified in DNA repair genes (FAN1, POLQ, and RAD54L) and other cancer‐related genes such as DROSHA and SLC34A2. Interestingly, the variant c.149T>G in the FAN1 gene was identified in two unrelated families, and exhibited LOH in the tumor tissue of one of them. In conclusion, this is the largest Brazilian WES study involving families at high‐risk for HBOC which has brought novel insights into the role of potentially new genetic risk factors for hereditary breast and ovarian cancer. [ABSTRACT FROM AUTHOR]

Published
2021
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192. Microarray analysis of the in vivo sequence preferences of a minor groove binding drug

Author

Malloy Kelly J, Hart Steven N, Brown Adam D, Eckdahl Todd T, Shott Martha, Yiu Gloria, Hoopes Laura, and Heyer Laurie J

Subjects
Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background Minor groove binding drugs (MGBDs) interact with DNA in a sequence-specific manner and can cause changes in gene expression at the level of transcription. They serve as valuable models for protein interactions with DNA and form an important class of antitumor, antiviral, antitrypanosomal and antibacterial drugs. There is a need to extend knowledge of the sequence requirements for MGBDs from in vitro DNA binding studies to living cells. Results Here we describe the use of microarray analysis to discover yeast genes that are affected by treatment with the MGBD berenil, thereby allowing the investigation of its sequence requirements for binding in vivo. A novel approach to sequence analysis allowed us to address hypotheses about genes that were directly or indirectly affected by drug binding. The results show that the sequence features of A/T richness and heteropolymeric character discovered by in vitro berenil binding studies are found upstream of genes hypothesized to be directly affected by berenil but not upstream of those hypothesized to be indirectly affected or those shown to be unaffected. Conclusion The data support the conclusion that effects of berenil on gene expression in yeast cells can be explained by sequence patterns discovered by in vitro binding experiments. The results shed light on the sequence and structural rules by which berenil binds to DNA and affects the transcriptional regulation of genes and contribute generally to the development of MGBDs as tools for basic and applied research.

Published
2008
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193. 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, Lemaçon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K., McGuffog, Lesley, Wang, Qin, Aalfs, Cora M., Abctctb, Investigators, Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittom, Kristiina Äki, Fares, Al Ejeh, 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.M., Azzollini, Jacopo, François, Bacot, Balma, Judith Nã, 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, Anne-Lise, Børresen Dale, Bozsik, Aniko, Bradbury, Angela R., Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Brigitte, Bressac De Paillerets, Brewer, Carole, Brinton, Louise, Broberg, Per, Angela, Brooks Wilson, Brunet, Joan, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S., Byun, Jinyoung, Cai, Qiuyin, Cald, Trinidad És, Caligo, Maria A., Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D., Esteban, Castelao, Castera, Laurent, Virginie, Caux Moncoutier, Chan, Salina B., Jenny, Chang Claude, Chanock, Stephen J., Chen, Xiaoqing, Cheng, Ting Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen B., 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, J. M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, Davidson, Rosemarie, Leeneer, Kim De L., Devilee, Peter, Dicks, Ed, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Doheny, Kimberly F., Domchek, Susan M., Dorfling, Cecilia M., Dörk, Thilo, Dos-Santos-Silva, Isabel, Dubois, Stéphane, Dugué, 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, Garciá-Saénz, José 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., González-Neira, Anna, Goodfellow, Paul, Greene, Mark H., Grenaker, Grethe Alnæs I., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Gschwantler, Daphne Kaulich, Guénel, Pascal, Guo, Qi, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hallberg, Emily, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Hansen, Thomas V., 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, Mac Hteld, 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, Lænkholm, Anne Vibeke, Laitman, Yael, Lalloo, Fiona, Lambrechts, Diether, Landsman, Keren, Lasset, Christine, Lazaro, Conxi, Marchand, Loic Le, Lindström, Sara, Al-Ejeh, Fares, Margreet, G. M.Ausems, Bacot, François, Børresen-Dale, Anne Lise, Bressac-De, Brigitte Paillerets, Brooks-Wilson, Angela, Castelao, J. Esteban, Caux-Moncoutier, Virginie, Chang-Claude, Jenny, McLaes, Kathleen B., Leeneer, Kim De, Dieter, Flesch Janys, Gschwantler-Kaulich, Daphne, Keupers, MacHteld, Lecarpentier, Julie, Lee, Andrew, Lee, Eunjung, Won, Jong Lee, 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., Siranoush, Manoukian, Manson, Joann E., Margolin, Sara, Martens, John W., Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, Mazoyer, Sylvie, McLean, Catriona, Meijers-Heijboer, Hanne, Menéndez, 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, Børge 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 Søkilde, Peissel, Bernard, Peixoto, Ana, Perez, Jose I., 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, Pujana, Miquel Angel, Pylkäs, 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, Schürmann, 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, Tengström, Maria, Teo, Soo H., Terry, Mary B., Tessier, Daniel C., Teul, Alex E., Thöne, Kathrin, Thull, Darcy L., Tibiletti, Maria Grazia, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A.M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Tranchant, Martine, Truong, Thérèse, Tucker, Kathy, Tung, Nadine, Tyrer, Jonathan, Ulmer, Hans Ulrich, Vachon, Celine, Christi, Van Asperen J., Den Berg, David Van, Ouweland, Ans M.Vanden, 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, Håkan, 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., Couch, Fergus J., Easton, Douglas F., Kraft, Peter, Chenevix-Trench, Georgia, Garciá-Closas, Montserrat, Schmidt, Marjanka K., Antoniou, Antonis C., Simard, Jacques, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Human Genetics, CCA - Cancer biology and immunology, Epidemiology and Data Science, Amsterdam Neuroscience - Complex Trait Genetics, Human genetics, Amsterdam Reproduction & Development (AR&D), Clinical Genetics, Medical Oncology, Internal Medicine, Obstetrics & Gynecology, MUMC+: DA KG Lab Centraal Lab (9), and RS: GROW - R4 - Reproductive and Perinatal Medicine

Subjects
0301 basic medicine, Oncology, Estrogen receptor, Genome-wide association study, consortium, Gene mutation, DISEASE, Breast cancer, Risk Factors, Receptors, common variants, BRCA2 MUTATION CARRIERS, Medicine and Health Sciences, CONFER SUSCEPTIBILITY, skin and connective tissue diseases, ovarian cancers, BRCA1 Protein, COMMON VARIANTS, Single Nucleotide, OVARIAN CANCERS, 3. Good health, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Receptors, Estrogen, functional variants, Female, estrogen receptor, SNPs, EXPRESSION, medicine.medical_specialty, Heterozygote, SUSCEPTIBILITY LOCI, European Continental Ancestry Group, Breast cancer, estrogen receptor, SNPs, Single-nucleotide polymorphism, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, White People, Article, Càncer de mama, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, expression, medicine, Genetic predisposition, Genetics, Journal Article, Humans, Genetic Predisposition to Disease, ddc:610, Risk factor, Polymorphism, GENOME-WIDE ASSOCIATION, FUNCTIONAL VARIANTS, disease, CONSORTIUM, Case-control study, Biology and Life Sciences, medicine.disease, confer susceptibility, Estrogen, susceptibility loci, 030104 developmental biology, Mutation, genome-wide association, brca2 mutation carriers, Genome-Wide Association Study
Abstract

Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease1. 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 × 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 BRCA1mutation 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

195. Hart attends training for tribal officials.

Author

Hart, Steven

Subjects
HUMAN services, DRUG traffic, NATURAL resources, PUBLIC officers, NATIVE American reservations
Abstract

Steven Hart, a member of the Confederated Tribes of the Umatilla Indian Reservation (CTUIR) Board of Trustees, recently attended the Elected Tribal Official Academy Training at the Ilani Casino Resort. The training, hosted by the Cowlitz Tribe, aimed to help elected tribal officials network and discuss priorities. Hart gained knowledge on various topics, including the roles and responsibilities of a tribal council, budget and financial responsibility, and policy versus administration. He believes that this academy should be mandatory for first-time elected officials. The training also focused on resilient tribal governance and covered topics such as Boldt at 50, an update on the Supreme Court, legislative updates, and tribal budgets. The networking aspect of the training was highly beneficial for both new and seasoned council and staff members. [Extracted from the article]

Published
2024

196. Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes

Author

Hu, Chunling, primary, LaDuca, Holly, additional, Shimelis, Hermela, additional, Polley, Eric C., additional, Lilyquist, Jenna, additional, Hart, Steven N., additional, Na, Jie, additional, Thomas, Abigail, additional, Lee, Kun Y., additional, Davis, Brigette Tippin, additional, Black, Mary Helen, additional, Pesaran, Tina, additional, Goldgar, David E., additional, Dolinsky, Jill S., additional, and Couch, Fergus J., additional

Published
2018
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198. Computational performance and accuracy of Sentieon DNASeq variant calling workflow

Author

Kendig, Katherine I., primary, Baheti, Saurabh, additional, Bockol, Matthew A., additional, Drucker, Travis M., additional, Hart, Steven N., additional, Heldenbrand, Jacob R., additional, Hernaez, Mikel, additional, Hudson, Matthew E., additional, Kalmbach, Michael T., additional, Klee, Eric W., additional, Mattson, Nathan R., additional, Ross, Christian A., additional, Taschuk, Morgan, additional, Wieben, Eric D., additional, Wiepert, Mathieu, additional, Wildman, Derek E., additional, and Mainzer, Liudmila S., additional

Published
2018
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199. BRCA1/2 Mutations and Bevacizumab in the Neoadjuvant Treatment of Breast Cancer: Response and Prognosis Results in Patients With Triple-Negative Breast Cancer From the GeparQuinto Study

Author

Fasching, Peter A., primary, Loibl, Sibylle, additional, Hu, Chunling, additional, Hart, Steven N., additional, Shimelis, Hermela, additional, Moore, Raymond, additional, Schem, Christian, additional, Tesch, Hans, additional, Untch, Michael, additional, Hilfrich, Jörn, additional, Rezai, Mahdi, additional, Gerber, Bernd, additional, Costa, Serban Dan, additional, Blohmer, Jens-Uwe, additional, Fehm, Tanja, additional, Huober, Jens, additional, Liedtke, Cornelia, additional, Weinshilboum, Richard M., additional, Wang, Liewei, additional, Ingle, James N., additional, Müller, Volkmar, additional, Nekljudova, Valentina, additional, Weber, Karsten E., additional, Rack, Brigitte, additional, Rübner, Matthias, additional, von Minckwitz, Gunter, additional, and Couch, Fergus J., additional

Published
2018
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200. Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing

Author

Shimelis, Hermela, primary, LaDuca, Holly, additional, Hu, Chunling, additional, Hart, Steven N, additional, Na, Jie, additional, Thomas, Abigail, additional, Akinhanmi, Margaret, additional, Moore, Raymond M, additional, Brauch, Hiltrud, additional, Cox, Angela, additional, Eccles, Diana M, additional, Ewart-Toland, Amanda, additional, Fasching, Peter A, additional, Fostira, Florentia, additional, Garber, Judy, additional, Godwin, Andrew K, additional, Konstantopoulou, Irene, additional, Nevanlinna, Heli, additional, Sharma, Priyanka, additional, Yannoukakos, Drakoulis, additional, Yao, Song, additional, Feng, Bing-Jian, additional, Tippin Davis, Brigette, additional, Lilyquist, Jenna, additional, Pesaran, Tina, additional, Goldgar, David E, additional, Polley, Eric C, additional, Dolinsky, Jill S, additional, and Couch, Fergus J, additional

Published
2018
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