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1. Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Author

Antoniou, Antonis C, Kuchenbaecker, Karoline B, Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Lee, Andrew, Barrowdale, Daniel, Healey, Sue, Sinilnikova, Olga M, Caligo, Maria A, Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Rosenquist, Richard, Karlsson, Per, Nathanson, Kate, Domchek, Susan, Rebbeck, Tim, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Złowowcka-Perłowska, Elżbieta, Osorio, Ana, Durán, Mercedes, Andrés, Raquel, Benítez, Javier, Hamann, Ute, Hogervorst, Frans B, van Os, Theo A, Verhoef, Senno, Meijers-Heijboer, Hanne EJ, Wijnen, Juul, Gómez Garcia, Encarna B, Ligtenberg, Marjolijn J, Kriege, Mieke, Collée, J Margriet, Ausems, Margreet GEM, Oosterwijk, Jan C, Peock, Susan, Frost, Debra, Ellis, Steve D, Platte, Radka, Fineberg, Elena, Evans, D Gareth, Lalloo, Fiona, Jacobs, Chris, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Douglas, Fiona, Brewer, Carole, Hodgson, Shirley, Morrison, Patrick J, Walker, Lisa, Rogers, Mark T, Donaldson, Alan, Dorkins, Huw, Godwin, Andrew K, Bove, Betsy, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Buecher, Bruno, de Pauw, Antoine, Mazoyer, Sylvie, Calender, Alain, Léoné, Mélanie, Bressac- de Paillerets, Brigitte, Caron, Olivier, Sobol, Hagay, Frenay, Marc, Prieur, Fabienne, Ferrer, Sandra, Mortemousque, Isabelle, Buys, Saundra, Daly, Mary, Miron, Alexander, Terry, Mary, Hopper, John L, John, Esther M, Southey, Melissa, Goldgar, David, Singer, Christian F, Fink-Retter, Anneliese, Tea, Muy-Kheng, Kaulich, Daphne, Hansen, Thomas VO, Nielsen, Finn C, Barkardottir, Rosa B, Gaudet, Mia, Kirchhoff, Tomas, Joseph, Vijai, Dutra-Clarke, Ana, Offit, Kenneth, and Piedmonte, Marion

Abstract

AbstractIntroductionSeveral common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). MethodsTo evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12599 BRCA1 and 7132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. ResultsOnly SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele Hazard Ratio (HR)= 0.87, 95%CI:0.81-0.94, P-trend=3x10^-4). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR=0.82, 95%CI:0.74-0.90, P-trend=3.1x10^-5, P-difference=0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend=0.015; rs1011970, P-trend=0.048; rs865686, 2df-P=0.007; rs1292011 2df-P=0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR=0.81, 95%CI: 0.74-0.90, P-trend=4x10^-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR=0.78, 95%CI:0.62-1.00, P-trend=0.049). ConclusionsThe present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers.

Published
2012

2. Supplementary Methods, Tables 1-3, Figure 1 from Altered Gene Expression in Morphologically Normal Epithelial Cells from Heterozygous Carriers of BRCA1 or BRCA2 Mutations

Author

Bellacosa, Alfonso, primary, Godwin, Andrew K., primary, Peri, Suraj, primary, Devarajan, Karthik, primary, Caretti, Elena, primary, Vanderveer, Lisa, primary, Bove, Betsy, primary, Slater, Carolyn, primary, Zhou, Yan, primary, Daly, Mary, primary, Howard, Sharon, primary, Campbell, Kerry S., primary, Nicolas, Emmanuelle, primary, Yeung, Anthony T., primary, Clapper, Margie L., primary, Crowell, James A., primary, Lynch, Henry T., primary, Ross, Eric, primary, Kopelovich, Levy, primary, and Knudson, Alfred G., primary

Published
2023
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3. Perspective on this Article from Altered Gene Expression in Morphologically Normal Epithelial Cells from Heterozygous Carriers of BRCA1 or BRCA2 Mutations

Author

Bellacosa, Alfonso, primary, Godwin, Andrew K., primary, Peri, Suraj, primary, Devarajan, Karthik, primary, Caretti, Elena, primary, Vanderveer, Lisa, primary, Bove, Betsy, primary, Slater, Carolyn, primary, Zhou, Yan, primary, Daly, Mary, primary, Howard, Sharon, primary, Campbell, Kerry S., primary, Nicolas, Emmanuelle, primary, Yeung, Anthony T., primary, Clapper, Margie L., primary, Crowell, James A., primary, Lynch, Henry T., primary, Ross, Eric, primary, Kopelovich, Levy, primary, and Knudson, Alfred G., primary

Published
2023
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4. Data from Altered Gene Expression in Morphologically Normal Epithelial Cells from Heterozygous Carriers of BRCA1 or BRCA2 Mutations

Author

Bellacosa, Alfonso, primary, Godwin, Andrew K., primary, Peri, Suraj, primary, Devarajan, Karthik, primary, Caretti, Elena, primary, Vanderveer, Lisa, primary, Bove, Betsy, primary, Slater, Carolyn, primary, Zhou, Yan, primary, Daly, Mary, primary, Howard, Sharon, primary, Campbell, Kerry S., primary, Nicolas, Emmanuelle, primary, Yeung, Anthony T., primary, Clapper, Margie L., primary, Crowell, James A., primary, Lynch, Henry T., primary, Ross, Eric, primary, Kopelovich, Levy, primary, and Knudson, Alfred G., primary

Published
2023
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5. Supplementary Tables 1-4 from Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author

Couch, Fergus J., primary, Gaudet, Mia M., primary, Antoniou, Antonis C., primary, Ramus, Susan J., primary, Kuchenbaecker, Karoline B., primary, Soucy, Penny, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Wang, Xianshu, primary, Kirchhoff, Tomas, primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Lee, Andrew, primary, Healey, Sue, primary, Sinilnikova, Olga M., primary, Andrulis, Irene L., primary, Ozcelik, Hilmi, primary, Mulligan, Anna Marie, primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Jensen, Uffe Birk, primary, Skytte, Anne-Bine, primary, Kruse, Torben A., primary, Caligo, Maria A., primary, von Wachenfeldt, Anna, primary, Barbany-Bustinza, Gisela, primary, Loman, Niklas, primary, Soller, Maria, primary, Ehrencrona, Hans, primary, Karlsson, Per, primary, Nathanson, Katherine L., primary, Rebbeck, Timothy R., primary, Domchek, Susan M., primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Złowocka, Elżbieta, primary, Huzarski, Tomasz, primary, Byrski, Tomasz, primary, Gronwald, Jacek, primary, Cybulski, Cezary, primary, Górski, Bohdan, primary, Osorio, Ana, primary, Durán, Mercedes, primary, Tejada, María Isabel, primary, Benitez, Javier, primary, Hamann, Ute, primary, Hogervorst, Frans B.L., primary, van Os, Theo A., primary, van Leeuwen, Flora E., primary, Meijers-Heijboer, Hanne E.J., primary, Wijnen, Juul, primary, Blok, Marinus J., primary, Kets, Marleen, primary, Hooning, Maartje J., primary, Oldenburg, Rogier A., primary, Ausems, Margreet G.E.M., primary, Peock, Susan, primary, Frost, Debra, primary, Ellis, Steve D., primary, Platte, Radka, primary, Fineberg, Elena, primary, Evans, D. Gareth, primary, Jacobs, Chris, primary, Eeles, Rosalind A., primary, Adlard, Julian, primary, Davidson, Rosemarie, primary, Eccles, Diana M., primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Brewer, Carole, primary, Douglas, Fiona, primary, Hodgson, Shirley V., primary, Morrison, Patrick J., primary, Walker, Lisa, primary, Porteous, Mary E., primary, Kennedy, M. John, primary, Side, Lucy E., primary, Bove, Betsy, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, Fassy-Colcombet, Marion, primary, Castera, Laurent, primary, Cornelis, François, primary, Mazoyer, Sylvie, primary, Léoné, Mélanie, primary, Boutry-Kryza, Nadia, primary, Bressac-de Paillerets, Brigitte, primary, Caron, Olivier, primary, Pujol, Pascal, primary, Coupier, Isabelle, primary, Delnatte, Capucine, primary, Akloul, Linda, primary, Lynch, Henry T., primary, Snyder, Carrie L., primary, Buys, Saundra S., primary, Daly, Mary B., primary, Terry, MaryBeth, primary, Chung, Wendy K., primary, John, Esther M., primary, Miron, Alexander, primary, Southey, Melissa C., primary, Hopper, John L., primary, Goldgar, David E., primary, Singer, Christian F., primary, Rappaport, Christine, primary, Tea, Muy-Kheng M., primary, Fink-Retter, Anneliese, primary, Hansen, Thomas V.O., primary, Nielsen, Finn C., primary, Arason, Aðalgeir, primary, Vijai, Joseph, primary, Shah, Sohela, primary, Sarrel, Kara, primary, Robson, Mark E., primary, Piedmonte, Marion, primary, Phillips, Kelly, primary, Basil, Jack, primary, Rubinstein, Wendy S., primary, Boggess, John, primary, Wakeley, Katie, primary, Ewart-Toland, Amanda, primary, Montagna, Marco, primary, Agata, Simona, primary, Imyanitov, Evgeny N., primary, Isaacs, Claudine, primary, Janavicius, Ramunas, primary, Lazaro, Conxi, primary, Blanco, Ignacio, primary, Feliubadalo, Lidia, primary, Brunet, Joan, primary, Gayther, Simon A., primary, Pharoah, Paul P.D., primary, Odunsi, Kunle O., primary, Karlan, Beth Y., primary, Walsh, Christine S., primary, Olah, Edith, primary, Teo, Soo Hwang, primary, Ganz, Patricia A., primary, Beattie, Mary S., primary, van Rensburg, Elizabeth J., primary, Dorfling, Cecelia M., primary, Diez, Orland, primary, Kwong, Ava, primary, Schmutzler, Rita K., primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Niederacher, Dieter, primary, Preisler-Adams, Sabine, primary, Gadzicki, Dorothea, primary, Varon-Mateeva, Raymonda, primary, Deissler, Helmut, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Kast, Karin, primary, Fiebig, Britta, primary, Heinritz, Wolfram, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Muranen, Taru A., primary, Nevanlinna, Heli, primary, Tischkowitz, Marc D., primary, Spurdle, Amanda B., primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Lindor, Noralane M., primary, Fredericksen, Zachary, primary, Pankratz, V. Shane, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Bernard, Loris, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Varesco, Liliana, primary, Radice, Paolo, primary, Greene, Mark H., primary, Mai, Phuong L., primary, Easton, Douglas F., primary, Chenevix-Trench, Georgia, primary, Offit, Kenneth, primary, and Simard, Jacques, primary

Published
2023
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6. Data from Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author

Couch, Fergus J., primary, Gaudet, Mia M., primary, Antoniou, Antonis C., primary, Ramus, Susan J., primary, Kuchenbaecker, Karoline B., primary, Soucy, Penny, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Wang, Xianshu, primary, Kirchhoff, Tomas, primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Lee, Andrew, primary, Healey, Sue, primary, Sinilnikova, Olga M., primary, Andrulis, Irene L., primary, Ozcelik, Hilmi, primary, Mulligan, Anna Marie, primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Jensen, Uffe Birk, primary, Skytte, Anne-Bine, primary, Kruse, Torben A., primary, Caligo, Maria A., primary, von Wachenfeldt, Anna, primary, Barbany-Bustinza, Gisela, primary, Loman, Niklas, primary, Soller, Maria, primary, Ehrencrona, Hans, primary, Karlsson, Per, primary, Nathanson, Katherine L., primary, Rebbeck, Timothy R., primary, Domchek, Susan M., primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Złowocka, Elżbieta, primary, Huzarski, Tomasz, primary, Byrski, Tomasz, primary, Gronwald, Jacek, primary, Cybulski, Cezary, primary, Górski, Bohdan, primary, Osorio, Ana, primary, Durán, Mercedes, primary, Tejada, María Isabel, primary, Benitez, Javier, primary, Hamann, Ute, primary, Hogervorst, Frans B.L., primary, van Os, Theo A., primary, van Leeuwen, Flora E., primary, Meijers-Heijboer, Hanne E.J., primary, Wijnen, Juul, primary, Blok, Marinus J., primary, Kets, Marleen, primary, Hooning, Maartje J., primary, Oldenburg, Rogier A., primary, Ausems, Margreet G.E.M., primary, Peock, Susan, primary, Frost, Debra, primary, Ellis, Steve D., primary, Platte, Radka, primary, Fineberg, Elena, primary, Evans, D. Gareth, primary, Jacobs, Chris, primary, Eeles, Rosalind A., primary, Adlard, Julian, primary, Davidson, Rosemarie, primary, Eccles, Diana M., primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Brewer, Carole, primary, Douglas, Fiona, primary, Hodgson, Shirley V., primary, Morrison, Patrick J., primary, Walker, Lisa, primary, Porteous, Mary E., primary, Kennedy, M. John, primary, Side, Lucy E., primary, Bove, Betsy, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, Fassy-Colcombet, Marion, primary, Castera, Laurent, primary, Cornelis, François, primary, Mazoyer, Sylvie, primary, Léoné, Mélanie, primary, Boutry-Kryza, Nadia, primary, Bressac-de Paillerets, Brigitte, primary, Caron, Olivier, primary, Pujol, Pascal, primary, Coupier, Isabelle, primary, Delnatte, Capucine, primary, Akloul, Linda, primary, Lynch, Henry T., primary, Snyder, Carrie L., primary, Buys, Saundra S., primary, Daly, Mary B., primary, Terry, MaryBeth, primary, Chung, Wendy K., primary, John, Esther M., primary, Miron, Alexander, primary, Southey, Melissa C., primary, Hopper, John L., primary, Goldgar, David E., primary, Singer, Christian F., primary, Rappaport, Christine, primary, Tea, Muy-Kheng M., primary, Fink-Retter, Anneliese, primary, Hansen, Thomas V.O., primary, Nielsen, Finn C., primary, Arason, Aðalgeir, primary, Vijai, Joseph, primary, Shah, Sohela, primary, Sarrel, Kara, primary, Robson, Mark E., primary, Piedmonte, Marion, primary, Phillips, Kelly, primary, Basil, Jack, primary, Rubinstein, Wendy S., primary, Boggess, John, primary, Wakeley, Katie, primary, Ewart-Toland, Amanda, primary, Montagna, Marco, primary, Agata, Simona, primary, Imyanitov, Evgeny N., primary, Isaacs, Claudine, primary, Janavicius, Ramunas, primary, Lazaro, Conxi, primary, Blanco, Ignacio, primary, Feliubadalo, Lidia, primary, Brunet, Joan, primary, Gayther, Simon A., primary, Pharoah, Paul P.D., primary, Odunsi, Kunle O., primary, Karlan, Beth Y., primary, Walsh, Christine S., primary, Olah, Edith, primary, Teo, Soo Hwang, primary, Ganz, Patricia A., primary, Beattie, Mary S., primary, van Rensburg, Elizabeth J., primary, Dorfling, Cecelia M., primary, Diez, Orland, primary, Kwong, Ava, primary, Schmutzler, Rita K., primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Niederacher, Dieter, primary, Preisler-Adams, Sabine, primary, Gadzicki, Dorothea, primary, Varon-Mateeva, Raymonda, primary, Deissler, Helmut, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Kast, Karin, primary, Fiebig, Britta, primary, Heinritz, Wolfram, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Muranen, Taru A., primary, Nevanlinna, Heli, primary, Tischkowitz, Marc D., primary, Spurdle, Amanda B., primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Lindor, Noralane M., primary, Fredericksen, Zachary, primary, Pankratz, V. Shane, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Bernard, Loris, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Varesco, Liliana, primary, Radice, Paolo, primary, Greene, Mark H., primary, Mai, Phuong L., primary, Easton, Douglas F., primary, Chenevix-Trench, Georgia, primary, Offit, Kenneth, primary, and Simard, Jacques, primary

Published
2023
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8. Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site

Author

Brewster, Brooke L., Rossiello, Francesca, French, Juliet D., Edwards, Stacey L., Wong, Ming, Wronski, Ania, Whiley, Phillip, Waddell, Nic, Chen, Xiaowei, Bove, Betsy, kConFab, Hopper, John L., John, Esther M., Andrulis, Irene, Daly, Mary, Volorio, Sara, Bernard, Loris, Peissel, Bernard, Manoukian, Siranoush, Barile, Monica, Pizzamiglio, Sara, Verderio, Paolo, Spurdle, Amanda B., Radice, Paolo, Godwin, Andrew K., Southey, Melissa C, Brown, Melissa A., and Peterlongo, Paolo

Published
2012
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12. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Author

Blein, Sophie, Bardel, Claire, Danjean, Vincent, Mcguffog, Lesley, Healey, Sue, Barrowdale, Daniel, Lee, Andrew, Dennis, Joe, Kuchenbaecker, Karoline B., Soucy, Penny, Terry, Mary Beth, Chung, Wendy K., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Neuhausen, Susan L., Ding, Yuan Chun, Gerdes, Anne Marie, Ejlertsen, Bent, Nielsen, Finn C., Hansen, Thomas V. O., Osorio, Ana, Benitez, Javier, Conejero, Raquel Andrés, Segota, Ena, Weitzel, Jeffrey N., Thelander, Margo, Peterlongo, Paolo, Radice, Paolo, Pensotti, Valeria, Dolcetti, Riccardo, Bonanni, Bernardo, Peissel, Bernard, Zaffaroni, Daniela, Scuvera, Giulietta, Manoukian, Siranoush, Varesco, Liliana, Capone, Gabriele L., Papi, Laura, Ottini, Laura, Yannoukakos, Drakoulis, Konstantopoulou, Irene, Garber, Judy, Hamann, Ute, Donaldson, Alan, Brady, Angela, Brewer, Carole, Foo, Claire, Evans, D. Gareth, Frost, Debra, Eccles, Diana, Douglas, Fiona, Cook, Jackie, Adlard, Julian, Barwell, Julian, Walker, Lisa, Izatt, Louise, Side, Lucy E., Kennedy, M. John, Tischkowitz, Marc, Rogers, Mark T., Porteous, Mary E., Morrison, Patrick J., Platte, Radka, Eeles, Ros, Davidson, Rosemarie, Hodgson, Shirley, Cole, Trevor, Godwin, Andrew K., Isaacs, Claudine, Claes, Kathleen, De Leeneer, Kim, Meindl, Alfons, Gehrig, Andrea, Wappenschmidt, Barbara, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Plendl, Hansjoerg, Kast, Karin, Rhiem, Kerstin, Ditsch, Nina, Arnold, Norbert, Varon Mateeva, Raymonda, Schmutzler, Rita K., Preisler Adams, Sabine, Markov, Nadja Bogdanova, Wang Gohrke, Shan, de Pauw, Antoine, Lefol, Cédrick, Lasset, Christine, Leroux, Dominique, Rouleau, Etienne, Damiola, Francesca, Dreyfus, Hélène, Barjhoux, Laure, Golmard, Lisa, Uhrhammer, Nancy, Bonadona, Valérie, Sornin, Valérie, Bignon, Yves Jean, Carter, Jonathan, Van Le, Linda, Piedmonte, Marion, Disilvestro, Paul A., de la Hoya, Miguel, Caldes, Trinidad, Nevanlinna, Heli, Aittomäki, Kristiina, Jager, Agnes, van den Ouweland, Ans M. W., Kets, Carolien M., Aalfs, Cora M., van Leeuwen, Flora E., Hogervorst, Frans B. L., Meijers Heijboer, Hanne E. J., Oosterwijk, Jan C., van Roozendaal, Kees E. P., Rookus, Matti A., Devilee, Peter, van der Luijt, Rob B., Olah, Edith, Diez, Orland, Teulé, Alex, Lazaro, Conxi, Blanco, Ignacio, Del Valle, Jesús, Jakubowska, Anna, Sukiennicki, Grzegorz, Gronwald, Jacek, Lubinski, Jan, Durda, Katarzyna, Jaworska Bieniek, Katarzyna, Agnarsson, Bjarni A., Maugard, Christine, Amadori, Alberto, Montagna, Marco, Teixeira, Manuel R., Spurdle, Amanda B., Foulkes, William, Olswold, Curtis, Lindor, Noralane M., Pankratz, Vernon S., Szabo, Csilla I., Lincoln, Anne, Jacobs, Lauren, Corines, Marina, Robson, Mark, Vijai, Joseph, Berger, Andreas, Fink Retter, Anneliese, Singer, Christian F., Rappaport, Christine, Kaulich, Daphne Geschwantler, Pfeiler, Georg, Tea, Muy Kheng, Greene, Mark H., Mai, Phuong L., Rennert, Gad, Imyanitov, Evgeny N., Mulligan, Anna Marie, Glendon, Gord, Andrulis, Irene L., Tchatchou, Sandrine, Toland, Amanda Ewart, Pedersen, Inge Sokilde, Thomassen, Mads, Kruse, Torben A., Jensen, Uffe Birk, Caligo, Maria A., Friedman, Eitan, Zidan, Jamal, Laitman, Yael, Lindblom, Annika, Melin, Beatrice, Arver, Brita, Loman, Niklas, Rosenquist, Richard, Olopade, Olufunmilayo I., Nussbaum, Robert L., Ramus, Susan J., Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy R., Arun, Banu K., Mitchell, Gillian, Karlan, Beth Y., Lester, Jenny, Orsulic, Sandra, Stoppa Lyonnet, Dominique, Thomas, Gilles, Simard, Jacques, Couch, Fergus J., Offit, Kenneth, Easton, Douglas F., Chenevix Trench, Georgia, Antoniou, Antonis C., Mazoyer, Sylvie, Phelan, Catherine M., Sinilnikova, Olga M., Cox, David G., Angelakos, Maggie, Maskiell, Judi, Dite, Gillian, Tsimiklis, Helen, Rudaitis, Vilius, Griškevicius, Laimonas, Eglitis, Drs Janis, Krilova, Anna, Stengrevics, Aivars, Ding, Chun, Steele, Linda, Barroso, Alicia, Alonso, Rosario, Pita, Guillermo, Viel, Alessandra, della Puppa, Lara, Barile, Monica, Tommasi, Stefania, Pilato, Brunella, Lambo, Rossana, Martayan, Aline, Tibiletti, Maria Grazia, Ellis, Steve, Fineberg, Elena, Miedzybrodzka, Zosia, Gregory, Helen, Jeffers, Lisa, Ong, Kai Ren, Hoffman, Jonathan, James, Margaret, Paterson, Joan, Taylor, Amy, Murray, Alexandra, Mccann, Emma, Barton, David, Drummond, Sarah, Kivuva, Emma, Searle, Anne, Goodman, Selina, Hill, Kathryn, Murday, Victoria, Bradshaw, Nicola, Snadden, Lesley, Longmuir, Mark, Watt, Catherine, Gibson, Sarah, Haque, Eshika, Tobias, Ed, Duncan, Alexis, Jacobs, Chris, Langman, Caroline, Dorkins, Huw, Serra Feliu, Gemma, Ellis, Ian, Houghton, Catherine, Lalloo, Fiona, Taylor, Jane, Male, Alison, Berlin, Cheryl, Eason, Jacqueline, Collier, Rebecca, Claber, Oonagh, Jobson, Irene, Mcleod, Diane, Halliday, Dorothy, Durell, Sarah, Stayner, Barbara, Shanley, Susan, Rahman, Nazneen, Houlston, Richard, Bancroft, Elizabeth, Page, Elizabeth, Ardern Jones, Audrey, Kohut, Kelly, Wiggins, Jennifer, Castro, Elena, Killick, Emma, Martin, Sue, Rea, Gillian, Kulkarni, Anjana, Quarrell, Oliver, Bardsley, Cathryn, Goff, Sheila, Brice, Glen, Winchester, Lizzie, Eddy, Charlotte, Tripathi, Vishakha, Attard, Virginia, Lehmann, Anna, Lucassen, Anneke, Crawford, Gillian, Mcbride, Donna, Smalley, Sarah, Weaver, Jo Ellen, Bove, Betsy, Verny Pierre, Carole, Calender, Alain, Giraud, Sophie, Léone, Mélanie, Gauthier Villars, Marion, Buecher, Bruno, Houdayer, Claude, Moncoutier, Virginie, Belotti, Muriel, Tirapo, Carole, Bressac de Paillerets, Brigitte, Caron, Olivier, Handallou, Sandrine, Hardouin, Agnès, Berthet, Pascaline, Sobol, Hagay, Bourdon, Violaine, Noguchi, Tetsuro, Remenieras, Audrey, Eisinger, François, Coupier, Isabelle, Pujol, Pascal, Peyrat, Jean Philippe, Fournier, Joëlle, Révillion, Françoise, Vennin, Philippe, Adenis, Claude, Lidereau, Rosette, Demange, Liliane, Nogues, Catherine, Muller, Danièle, Fricker, Jean Pierre, Barouk Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Sevenet, Nicolas, Longy, Michel, Toulas, Christine, Guimbaud, Rosine, Gladieff, Laurence, Feillel, Viviane, Rebischung, Christine, Peysselon, Magalie, Coron, Fanny, Faivre, Laurence, Prieur, Fabienne, Lebrun, Marine, Kientz, Caroline, Ferrer, Sandra Fert, Frénay, Marc, Vénat Bouvet, Laurence, Delnatte, Capucine, Mortemousque, Isabelle, Coulet, Florence, Colas, Chrystelle, Soubrier, Florent, Sokolowska, Johanna, Bronner, Myriam, Collonge Rame, Marie Agnès, Damette, Alexandre, Lynch, Henry T., Snyder, Carrie L., Muranen, Taru A., Blomqvist, Drs Carl, Aaltonen, Kirsimari, Erkkilä, Irja, Palola, Virpi, Verhoef, S., Schmidt, M. K., de Lange, J. L., Wijnands, R., Collée, J. M., Hooning, M. J., Seynaeve, C., van Deurzen, C. H. M., Obdeijn, I. M., van Asperen, C. J., Wijnen, J. T., Tollenaar, R. A. E. M., van Cronenburg, T. C. T. E. F., Mensenkamp, A. R., Ausems, M. G. E. M., van Os, T. A. M., Gille, J. J. P., Waisfisz, Q., Gómez Garcia, E. B., Blok, M. J., van der Hout, A. H., Mourits, M. J., de Bock, G. H., Vasen, H. F., Siesling, S., Overbeek, L. I. H., Papp, Janos, Vaszko, Tibor, Bozsik, Aniko, Pocza, Timea, Franko, Judit, Balogh, Maria, Domokos, Gabriella, Ferenczi, Judit, Balmaña, J., Capella, Gabriel, Dumont, Martine, Tranchant, Martine, Peixoto, Ana, Santos, Catarina, Rocha, Patrícia, Pinto, Pedro, Thorne, Heather, Niedermayr, Eveline, Foretova, Lenka, Machackova, Eva, Zikan, Michal, Pohlreich, Petr, Kleibl, Zdenek, Dishon, Sara, Lejbkowicz, Flavio, Pinchev, Mila, Senter, Leigha, Sweet, Kevin, Craven, Caroline, O'Conor, Michelle, Borg, Ake, Olsson, Håkan, Jernström, Helena, Henriksson, Karin, Harbst, Katja, Soller, Maria, Kristoffersson, Ulf, Öfverholm, Anna, Nordling, Margareta, Karlsson, Per, Einbeigi, Zakaria, von Wachenfeldt, Anna, Liljegren, Annelie, Bustinza, Gisela Barbany, Rantala, Johanna, Ardnor, Christina Edwinsdotter, Emanuelsson, Monica, Ehrencrona, Hans, Pigg, Maritta Hellström, Stenmark Askmalm, Marie, Liedgren, Sigrun, Zvocec, Cecilia, Niu, Qun, Seldon, Joyce, Kwan, Lorna, Crawford, Beth, Loranger, Kate, Mak, Julie, Stewart, Nicola, Lee, Robin, Blanco, Amie, Conrad, Peggy, Chan, Salina, Pharoah, Paul D. P., Gayther, Simon, Pye, Carole, Harrington, Patricia, Wozniak, Eva, Lindeman, Geoffrey, Harris, Marion, Delatycki, Martin, Sawyer, Sarah, Driessen, Rebecca, Thompson, Ella, Breast Cancer Family Registry, Null, Embrace, Null, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Medical Oncology, Clinical Genetics, Radiotherapy, MUMC+: DA KG Lab Specialisten (9), Klinische Genetica, Genetica & Celbiologie, RS: FHML non-thematic output, [ 1 ] Univ Lyon 1, Ctr Rech Cancerol Lyon, CNRS, INSERM U1052,UMR5286, F-69365 Lyon, France [ 2 ] Univ Lyon, F-69000 Lyon, France [ 3 ] Univ Lyon 1, F-69100 Villeurbanne, France [ 4 ] Univ Lyon 1, CNRS, Lab Biometrie & Biol Evolut LBBE Biometrie & Bio, UMR 5558, F-69622 Villeurbanne, France [ 5 ] Univ Grenoble Alpes, Lab Informat Grenoble LIG, Equipe Projet Multiprogrammat & Ordonnancement Re, UMR 5217, F-38041 Grenoble, France [ 6 ] INRIA Rhone Alpes, Equipe Projet MOAIS, F-38334 Saint Ismier, France [ 7 ] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge, England [ 8 ] QIMR Berghofer, Dept Genet & Computat Biol, Brisbane, Qld, Australia [ 9 ] Univ Laval, Ctr Hosp Univ Quebec, Ctr Rech, Charlesbourg, PQ, Canada [ 10 ] Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY USA [ 11 ] Columbia Univ, Dept Pediat, Coll Phys & Surg, New York, NY 10027 USA [ 12 ] Columbia Univ, Dept Med, Coll Phys & Surg, New York, NY 10027 USA [ 13 ] Univ Utah, Sch Med, Dept Dermatol, Salt Lake City, UT USA [ 14 ] Univ Utah, Sch Med, Huntsman Canc Inst, Dept Internal Med, Salt Lake City, UT USA [ 15 ] Canc Prevent Inst Calif, Dept Epidemiol, Fremont, CA 94538 USA [ 16 ] Vilnius State Univ, Hosp Santariskiu Clin, Hematol Oncol & Transfus Med Ctr, Vilnius, Lithuania [ 17 ] State Res Inst, Ctr Innovat Med, Dept Mol & Regenerat Med, Vilnius, Lithuania [ 18 ] Latvian Biomed Res & Study Ctr, LV-1067 Riga, Latvia [ 19 ] Beth Israel Deaconess Med Ctr, Div Hematol Oncol, Boston, MA 02215 USA [ 20 ] Univ Pretoria, Dept Genet, ZA-0028 Pretoria, South Africa [ 21 ] City Hope Natl Med Ctr, Beckman Res Inst, Dept Populat Sci, Duarte, CA 91010 USA [ 22 ] Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Copenhagen, Denmark [ 23 ] Copenhagen Univ Hosp, Rigshosp, Dept Oncol, Copenhagen, Denmark [ 24 ] Copenhagen Univ Hosp, Rigshosp, Ctr Genom Med, Copenhagen, Denmark [ 25 ] Spanish Natl Canc Res Ctr CNIO, Human Genet Grp, Madrid, Spain [ 26 ] Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain [ 27 ] Hosp Clin Univ Lozano Blesa, Med Oncol Serv, Zaragoza 50009, Spain [ 28 ] Holy Cross Hosp, Michael & Dianne Bienes Comprehens Canc Ctr, Ft Lauderdale, FL USA [ 29 ] City Hope Natl Med Ctr, Clin Canc Genet Community Res Network, Div Clin Canc Genet, Duarte, CA 91010 USA [ 30 ] John Muir Med Ctr, Walnut Creek, CA USA [ 31 ] City Hope Natl Med Ctr, Clin Canc Genet Community Res Network, Duarte, CA 91010 USA [ 32 ] Ist FIRC Oncol Mol IFOM, I-20139 Milan, Italy [ 33 ] Ist Nazl Tumori, IRCCS, Dept Prevent & Predict Med, Unit Mol Bases Genet Risk & Genet Testing, I-20133 Milan, Italy [ 34 ] Cogentech Canc Genet Test Lab, I-20139 Milan, Italy [ 35 ] Ctr Riferimento Oncol CRO, Canc Bioimmunotherapy Unit, I-33081 Aviano, Italy [ 36 ] Ist Europeo Oncol, Div Canc Prevent & Genet, I-20141 Milan, Italy [ 37 ] Ist Nazl Tumori, IRCCS, Dept Prevent & Predict Med, Unit Med Genet, I-20133 Milan, Italy [ 38 ] Azienda Osped Univ San Martino Genova, IST Ist Nazl Ric Cancro, IRCCS, Dept Epidemiol Prevent & Special Funct,Unit Hered, I-16132 Genoa, Italy [ 39 ] FiorGen Fdn Pharmacogen, I-50019 Sesto Fiorentino, Italy [ 40 ] Univ Florence, Dept Biomed Expt & Clin Sci, Unit Med Genet, Florence, Italy [ 41 ] Univ Roma La Sapienza, Dept Mol Med, I-00185 Rome, Italy [ 42 ] Aristotle Univ Thessaloniki, Papageorgiou Hosp, Sch Med, Dept Med Oncol, GR-54006 Thessaloniki, Greece [ 43 ] Natl Ctr Sci Res Demokritos, INRASTES, Mol Diagnost Lab, Athens, Greece [ 44 ] Dana Farber Canc Inst, Boston, MA 02215 USA [ 45 ] Deutsch Krebsforschungszentrum DKFZ, Mol Genet Breast Canc, Heidelberg, Germany [ 46 ] St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England [ 47 ] Kennedy Galton Ctr, North West Thames Reg Genet Serv, Harrow, Middx, England [ 48 ] Royal Devon & Exeter Hosp, Dept Clin Genet, Exeter EX2 5DW, Devon, England [ 49 ] Liverpool Womens NHS Fdn Trust, Merseyside & Cheshire Clin Genet Serv, Liverpool L8 7SS, Merseyside, England [ 50 ] Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Genet Med, Manchester, Lancs, England [ 51 ] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Strangeways Res Lab, Cambridge CB1 8RN, England [ 52 ] Univ Southampton, Southampton Univ Hosp, NHS Trust, Fac Med, Southampton SO16 6YD, Hants, England [ 53 ] Newcastle Upon Tyne Hosp, NHS Trust, Int Ctr Life, Inst Human Genet,Northern Genet Serv, Newcastle Upon Tyne NE1 4EP, Tyne & Wear, England [ 54 ] Sheffield Childrens Hosp, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England [ 55 ] Leeds Teaching Hosp, NHS Trust, Old Med Sch, Yorkshire Reg Genet Serv, Leeds LS1 3EX, W Yorkshire, England [ 56 ] Univ Hosp Leicester, NHS Trust, Leicester Royal Infirm, Dept Clin Genet,Leicestershire Clin Genet Serv, Leicester LE1 5WW, Leics, England [ 57 ] Churchill Hosp, Oxford Reg Genet Serv, Oxford OX3 7LE, England [ 58 ] Guys Hosp, Guys & St Thomas NHS Fdn Trust, Clin Genet Serv, London SE1 9RT, England [ 59 ] Great Ormond St Hosp Sick Children, NHS Trust, North East Thames Reg Genet Serv, London WC1N 3BH, England [ 60 ] Trinity Coll Dublin, Acad Unit Clin & Mol Oncol, Dublin 2, Ireland [ 61 ] St James Hosp, Med Oncol Serv, Dublin 8, Ireland [ 62 ] Cambridge Univ Hosp, Addenbrookes Hosp, NHS Fdn Trust, Addenbrookes Treatment Ctr,Dept Clin Genet,East A, Cambridge CB2 0QQ, England [ 63 ] Univ Wales Hosp, All Wales Med Genet Serv, Cardiff CF14 4XW, S Glam, Wales [ 64 ] Western Gen Hosp, South East Scotland Reg Genet Serv, Edinburgh EH4 2XU, Midlothian, Scotland [ 65 ] Queens Univ Belfast, Sch Med Dent & Biomed Sci, Ctr Canc Res & Cell Biol, Belfast BT9 7AE, Antrim, North Ireland [ 66 ] Belfast City Hosp, Belfast Hlth & Social Care Trust, Dept Med Genet, Belfast BT9 7AB, Antrim, North Ireland [ 67 ] Inst Canc Res, Oncogenet Team, London SW7 3RP, England [ 68 ] Royal Marsden NHS Fdn Trust, London SW7 3RP, England [ 69 ] Yorkhill Hosp, Ferguson Smith Ctr Clin Genet, Glasgow G3 8SJ, Lanark, Scotland [ 70 ] Univ London St Georges Hosp, Dept Med Genet, South West Thames Reg Genet Serv, London SW17 0RE, England [ 71 ] Birmingham Womens Hosp, Healthcare NHS Trust, West Midlands Reg Genet Serv, Birmingham B15 2TG, W Midlands, England [ 72 ] Univ Kansas, Med Ctr, Dept Pathol & Lab Med, Kansas City, KS 66160 USA [ 73 ] MedStar Georgetown Univ Hosp, Lombardi Comprehens Canc Ctr, Washington, DC 20057 USA [ 74 ] Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium [ 75 ] Tech Univ Munich, Univ Hosp Klinikum Rechts Isar, Dept Obstet & Gynaecol, Div Tumor Genet, D-81675 Munich, Germany [ 76 ] Univ Wurzburg, Inst Humangenet, Ctr Familial Breast & Ovarian Canc, Biozentrum,Dept Med Genet, D-97074 Wurzburg, Germany [ 77 ] Univ Hosp Cologne, Fac Med, Canc Ctr Cologne, CIO,Ctr Hereditary Breast & Ovarian Canc, Cologne, Germany [ 78 ] Univ Cologne, CMMC, D-50931 Cologne, Germany [ 79 ] Univ Heidelberg Hosp, Inst Human Genet, Dept Human Genet, Heidelberg, Germany [ 80 ] Univ Leipzig, Fac Med, Inst Med Informat Stat & Epidemiol, D-04109 Leipzig, Germany [ 81 ] Univ Dusseldorf, Univ Hosp Dusseldorf, Dept Obstet & Gynaecol, D-40225 Dusseldorf, Germany [ 82 ] Hannover Med Sch, Ctr Pathol & Forens & Genet Med, Inst Cell & Mol Pathol, D-30625 Hannover, Germany [ 83 ] Univ Med Ctr Schleswig Holstein, Inst Human Genet, D-24105 Kiel, Germany [ 84 ] Tech Univ Dresden, Univ Hosp Carl Gustav Carus Dresden, Dept Gynecol & Obstet, D-01062 Dresden, Germany [ 85 ] Univ Med Ctr Schleswig Holstein, Dept Gynecol & Obstet, D-24105 Kiel, Germany [ 86 ] Charite, Inst Med Genet & Human Genet, D-13353 Berlin, Germany [ 87 ] GC HBOC, Cologne, Germany [ 88 ] Univ Hosp Munster, Inst Human Genet, D-48149 Munster, Germany [ 89 ] Univ Hosp Ulm, Dept Gynecol & Obstet, Ulm, Germany [ 90 ] Inst Curie, Dept Tumor Biol, F-75248 Paris 05, France [ 91 ] Ctr Leon Berard, Unite Prevent & Epidemiol Genet, F-69008 Lyon, France [ 92 ] CHU Grenoble, Genet Clin, F-38043 Grenoble 9, France [ 93 ] Univ Grenoble 1, INSERM, Inst Albert Bonniot, U823, F-38706 La Tronche, France [ 94 ] Hop Rene Huguenin, Lab Oncogenet, F-92210 St Cloud, France [ 95 ] Univ Clermont Ferrand, Ctr Jean Perrin, Dept Oncogenet, F-63011 Clermont Ferrand, France [ 96 ] Royal Prince Alfred Hosp, Sydney Canc Ctr, Gynaecol Oncol, Camperdown, NSW 2050, Australia [ 97 ] Univ Sydney, Camperdown, NSW 2050, Australia [ 98 ] Univ N Carolina, Dept OB GYN, Gynecol Oncol Grp, Chapel Hill, NC 27599 USA [ 99 ] Roswell Pk Canc Inst, Gynecol Oncol Grp Stat & Data Ctr, Buffalo, NY 14263 USA [ 100 ] Brown Univ, Women & Infants Hosp, Providence, RI 02905 USA [ 101 ] Hlth Res Inst San Carlos Clin Hosp IdISSC, Mol Oncol Lab, Madrid 28040, Spain [ 102 ] Univ Helsinki, Dept Obstet & Gynecol, Helsinki 00029, Finland [ 103 ] Univ Helsinki, Cent Hosp, Biomedicum Helsinki, Helsinki 00029, Finland [ 104 ] Univ Helsinki, Cent Hosp, Biomedicum Helsinki 1, Dept Clin Genet, FIN-00290 Helsinki, Finland [ 105 ] Erasmus Univ, Med Ctr, Dept Med Oncol, Family Canc Clin, NL-3000 CA Rotterdam, Netherlands [ 106 ] Erasmus Univ, Med Ctr, Dept Clin Genet, Family Canc Clin, NL-3000 CA Rotterdam, Netherlands [ 107 ] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands [ 108 ] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands [ 109 ] Netherlands Canc Inst, Dept Epidemiol, Amsterdam, Netherlands [ 110 ] Netherlands Canc Inst, Family Canc Clin, Amsterdam, Netherlands [ 111 ] Vrije Univ Amsterdam, Med Ctr Amsterdam, Dept Clin Genet, NL-1081 HV Amsterdam, Netherlands [ 112 ] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands [ 113 ] Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6200 MD Maastricht, Netherlands [ 114 ] Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Human Genet, NL-2300 RC Leiden, Netherlands [ 115 ] Leiden Univ, Med Ctr, Dept Pathol, NL-2300 RC Leiden L1Q, Netherlands [ 116 ] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands [ 117 ] Natl Inst Oncol, Dept Mol Genet, Budapest, Hungary [ 118 ] Univ Hosp Vall DHebron, Vall DHebron Inst Oncol VHIO, Vall DHebron Res Inst VHIR, Oncogenet Grp, Barcelona 08035, Spain [ 119 ] Univ Autonoma Barcelona, Barcelona 08035, Spain [ 120 ] Hosp Duran & Reynals, Catalan Inst Oncol, Inst Invest Biomed Bellvitge IDIBELL, Genet Counseling Unit,Hereditary Canc Program, Barcelona 08908, Spain [ 121 ] Hosp Duran & Reynals, Catalan Inst Oncol, Inst Invest Biomed Bellvitge IDIBELL, Mol Diagnost Unit,Hereditary Canc Program, Barcelona 08908, Spain [ 122 ] Pomeranian Med Univ, Fac Med & Dent, Dept Genet & Pathomorphol, PL-70111 Szczecin, Poland [ 123 ] Landspitali Natl Univ Hosp Iceland, IS-101 Reykjavik, Iceland [ 124 ] Univ Iceland, Fac Med, Sch Med, Sch Hlth Sci, IS-101 Reykjavik, Iceland [ 125 ] Nouvel Hop Civil, Hop Univ Strasbourg, Lab Diagnost Genet, F-67091 Strasbourg, France [ 126 ] Nouvel Hop Civil, Hop Univ Strasbourg, Serv Oncohematol, F-67091 Strasbourg, France [ 127 ] Univ Padua, Dept Surg Sci Oncol & Gastroenterol, Clin Surg 2, I-35124 Padua, Italy [ 128 ] IRCCS, IOV, Immunol & Mol Oncol Unit, I-35128 Padua, Italy [ 129 ] Portuguese Oncol Inst IPO PORTO, Dept Genet, P-4200072 Oporto, Portugal [ 130 ] Univ Porto, ICBAS, P-4050313 Oporto, Portugal [ 131 ] McGill Univ, Dept Human Genet & Oncol, Program Canc Genet, Montreal, PQ J2W 1S6, Canada [ 132 ] Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA [ 133 ] Mayo Clin, Dept Hlth Sci Res, Scottsdale, AZ 85259 USA [ 134 ] NHGRI, NIH, Bethesda, MD 20892 USA [ 135 ] Mem Sloan Kettering Canc Ctr, Dept Med, Clin Genet Serv, New York, NY 10065 USA [ 136 ] Mem Sloan Kettering Canc Ctr, Clin Genet Res Lab, New York, NY 10065 USA [ 137 ] AKH Wien, Med Univ Vienna, Univ Klin Frauenheilkun, Comprehens Canc Ctr Vienna,Dept Obstet & Gynecol, A-1090 Vienna, Austria [ 138 ] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA [ 139 ] Natl Israeli Canc Control Ctr, IL-34361 Haifa, Israel [ 140 ] Carmel Hosp, Dept Community Med & Epidemiol, Clalit Hlth Serv, IL-34361 Haifa, Israel [ 141 ] Technion Israel Inst Technol, Ruth & Bruce Rappaport Fac Med, IL-34362 Haifa, Israel [ 142 ] NN Petrov Oncol Res Inst, St Petersburg 197758, Russia [ 143 ] Univ Toronto, Dept Lab Med & Pathol, Toronto, ON M5S 1A8, Canada [ 144 ] St Michaels Hosp, Keenan Res Ctr, Li Ka Shing Knowledge Inst, Toronto, ON M5B 1T8, Canada [ 145 ] Canc Care Ontario, Ontario Canc Genet Network, Toronto, ON M5G 2L7, Canada [ 146 ] Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada [ 147 ] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada [ 148 ] Dept Human Canc Genet, Columbus, OH 43210 USA [ 149 ] Ohio State Univ, Wexner Med Ctr, Dept Internal Med, Columbus, OH 43210 USA [ 150 ] Ohio State Univ, Wexner Med Ctr, Dept Mol Virol Immunol & Med Genet, Columbus, OH 43210 USA [ 151 ] Ohio State Univ, Arthur G James Canc Hosp, Ctr Comprehens Canc, Columbus, OH 43210 USA [ 152 ] Richard J Solove Res Inst OSUCCC James, Columbus, OH 43210 USA [ 153 ] Aalborg Univ Hosp, Dept Biochem, Sect Mol Diagnost, DK-9000 Aalborg, Denmark [ 154 ] Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense C, Denmark [ 155 ] Aarhus Univ Hosp, Dept Clin Genet, DK-8200 Aarhus N, Denmark [ 156 ] Azienda Osped Univ Pisana, Osped S Chiara, Div Anat Patol & Diagnost Mol & Ultrastrutturale, Lab Genet Oncol, I-56126 Pisa, Italy [ 157 ] Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, Sheba Lab Mol Genet, IL-52621 Tel Hashomer, Israel [ 158 ] Inst Oncol, Rivka Ziv Med Ctr, IL-13100 Maimonides, Safed, Israel [ 159 ] Karolinska Univ Hosp, Dept Canc Genet, SE-17176 Stockholm, Sweden [ 160 ] Umea Univ, Dept Radiat Sci, Oncol, SE-90187 Umea, Sweden [ 161 ] Karolinska Univ Hosp, Dept Oncol Pathol, Radiumhemmet, S-17176 Stockholm, Sweden [ 162 ] Univ Lund Hosp, Dept Clin Sci, Div Oncol & Pathol, SE-22185 Lund, Sweden [ 163 ] Uppsala Univ, Dept Immunol Genet & Pathol, Rudbeck Lab, S-75185 Uppsala, Sweden [ 164 ] Univ Chicago, Ctr Clin Canc Genet & Global Hlth, Chicago, IL 60637 USA [ 165 ] Univ Calif San Francisco, Dept Med & Genet, San Francisco, CA 94143 USA [ 166 ] Univ So Calif, Norris Comprehens Canc Ctr, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90089 USA [ 167 ] Univ Penn, Perelman Sch Med, Abramson Canc Ctr, Dept Med, Philadelphia, PA 19104 USA [ 168 ] Univ Penn, Perelman Sch Med, Abramson Canc Ctr, Dept Epidemiol & Biostat, Philadelphia, PA 19104 USA [ 169 ] Univ Texas MD Anderson Canc Ctr, Dept Breast Med Oncol, Div Canc Med, Houston, TX 77230 USA [ 170 ] Peter MacCallum Canc Ctr, Familial Canc Ctr, Sir Peter MacCallum Dept Oncol, East Melbourne, Vic 3002, Australia [ 171 ] Univ Melbourne, Sir Peter MacCallum Dept Oncol, Parkville, Vic 3010, Australia [ 172 ] Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Womens Canc Program, Los Angeles, CA 90048 USA [ 173 ] INSERM, Inst Curie, Serv Genet Oncol, F-75248 Paris, France [ 174 ] Univ Paris 05, Fac Med, Sorbonne Paris Cite, F-75006 Paris, France [ 175 ] Univ Lyon 1, Fac Med Lyon Est, Genet Med, F-69373 Lyon 08, France [ 176 ] Ctr Leon Berard, Fdn Synergie Lyon Canc, Inst Natl Canc INCa, F-69008 Lyon 08, France [ 177 ] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA [ 178 ] H Lee Moffitt Canc Ctr & Res Inst, Dept Canc Epidemiol, Tampa, FL 33612 USA [ 179 ] Ctr Leon Berard, Hosp Civils Lyon, Unite Mixte Genet Constitut Canc Frequents, F-69373 Lyon 08, France [ 180 ] City Hope Natl Med Ctr, Clin Canc Genet Community Res Network, Duarte, CA 91010 USA, Human genetics, CCA - Oncogenesis, MUMC+: DA KG Lab Centraal Lab (9), Lee, Andrew [0000-0003-0677-0252], Dennis, Joe [0000-0003-4591-1214], Tischkowitz, Marc [0000-0002-7880-0628], Antoniou, Antonis [0000-0001-9223-3116], Apollo - University of Cambridge Repository, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Human Genetics, Cancer Center Amsterdam, Amsterdam Reproduction & Development (AR&D), Department of Obstetrics and Gynecology, Clinicum, Medicum, Kristiina Aittomäki / Principal Investigator, and Department of Medical and Clinical Genetics

Subjects
Genetic modifiers, Dna haplogroups, endocrine system diseases, Genes, BRCA2, Genes, BRCA1, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], ADN mitocondrial, SUSCEPTIBILITY, VARIANTS, 0302 clinical medicine, Breast Cancer Family Registry, Brjóstakrabbamein, MULTIPLE, Aetiology, skin and connective tissue diseases, Phylogeny, Cancer, ddc:616, 0303 health sciences, Mutation, education.field_of_study, Variants, SINGLE-NUCLEOTIDE POLYMORPHISMS, Subclade, Mitochondrial DNA, 3. Good health, ddc, Damage, Oncology, Ovarian, 030220 oncology & carcinogenesis, DISEASES, Multiple, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Single-nucleotide polymorphism, Breast Neoplasms/genetics, EMBRACE, GEMO Study Collaborators, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Urological cancers Radboud Institute for Molecular Life Sciences [Radboudumc 15], Genetics, Humans, education, Cancer och onkologi, Haplotype, BRCA2, Genes, mitochondrial haplogroup T1a1, breast cancer, BRCA2, Cancer and Oncology, GENETIC MODIFIERS, Polymorphisms, Cancer Research, [SDV]Life Sciences [q-bio], medicine.disease_cause, Haplogroup, 610 Medical sciences Medicine, 3123 Gynaecology and paediatrics, Medicine and Health Sciences, 2.1 Biological and endogenous factors, OXIDATIVE STRESS, Non-U.S. Gov't, Medicine(all), Gen, BRCA1 Protein, Research Support, Non-U.S. Gov't, Cohort, OVARIAN, Mitochondria, Mitochondrial, Genes, Mitochondrial, Female, Research Article, Risk, Heterozygote, BRCA1 protein, breast neoplasms, female, genetic predisposition to disease, haplotypes, humans, phylogeny, risk, genes, BRCA2, genes, mitochondrial, heterozygote, mutation, cancer research, oncology, Population, 3122 Cancers, Oncology and Carcinogenesis, Breast Neoplasms, Biology, Research Support, Càncer de mama, Breast Cancer, medicine, Journal Article, Genetic Predisposition to Disease, ddc:610, Oncology & Carcinogenesis, HEBON, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], CONSORTIUM, African, DNA HAPLOGROUPS, Arfgengi, Haplotypes, Susceptibility, BRCA1 Protein/genetics, Human mitochondrial DNA haplogroup
Abstract

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access. Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals. We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects. European Commission Seventh Framework Program 223175: HEALTH-F2-2009-223175 Cancer Research UK C12292/A11174 C1287/A10118 C1287/A11990 C5047/A8385 National Health and Medical Research Council (NHMRC) program National Health and Medical Research Council (NHMRC) American Cancer Society Early Detection Professorship SIOP-06-258-01-COUN Intramural Research Program of the National Cancer Institute, National Institutes of Health National Cancer Institute, National Institutes of Health UM1 CA164920 Lithuania (BFBOCC-LT): Research Council of Lithuania LIG-07/2012 LSC 10.0010.08 European Social Fund 2009/0220/1DP/1.1.1.2.0/09/APIA/VIAA/016 Liepaja City Council, Liepaja, Latvia Breast Cancer Research Foundation Cancer Association of South Africa (CANSA) Morris and Horowitz Families Professorship in Cancer Etiology and Outcomes Research NEYE Foundation Spanish Association against Cancer (Asociacion Espanola Contra el Cancer) AECC08 Thematic Network Cooperative Research in Cancer (Red Tematica Investigacion Cooperativa en Cancer (RTICC), Centro de Investigacion Cancer, Salamanca, Spain) RTICC 06/0020/1060 Spanish Ministry of Science and Innovation FIS PI08 1120 Fondo de Investigacion Sanitaria (FIS) SAF2010-20493 Fundacion Mutua Madrilena (FMMA) City of Hope Clinical Cancer Genetics Community Network and the Hereditary Cancer Research Registry (COH-CCGCRN) National Cancer Institute and the Office of the Director, National Institutes of Health RC4CA153828 Italian citizens Fondazione IRCCS Istituto Nazionale Tumori Italian Association for Cancer Research (AIRC) European Union (European Social Fund (ESF) Greek national funds through the "Education and Lifelong Learning" operational program of the National Strategic Reference Framework (NSRF) - Research Funding Program of the General Secretariat for Research and Technology: ARISTEIA "Heracleitus II: Investing in knowledge society through the European Social Fund" Deutsches Krebsforschungszentrum (DKFZ) National Institute for Health Research (NIHR) grant to the Biomedical Research Centre, Manchester, UK NIHR grant to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust, London University of Kansas Cancer Center P30 CA168524 Kansas Bioscience Authority Eminent Scholar Program Chancellors Distinguished Chair in Biomedical Sciences Professorship German Cancer Aid 109076 Center for Molecular Medicine Cologne (CMMC) Ligue National Contre le Cancer Association "Le cancer du sein, parlons-en!" Award Canadian Institutes of Health Research for the CIHR Team in Familial Risks of Breast Cancer program GOA BOF10/GOA/019 Ghent University Hospital National Cancer Institute grants to the GOG Administrative Office and Tissue Bank CA 27469 GOG Statistical and Data Center CA 37517 GOG's Cancer Prevention and Control Committee CA 101165 Instituto de Salud Carlos III (ISCIII), Madrid, Spain RD12/00369/0006 12/00539 European Regional Development Fund (Fonds europeen de developpement regional (FEDER)) funds Helsinki University Central Hospital Research Fund Academy of Finland 266528 Finnish Cancer Society Sigrid Juselius Foundation Dutch Cancer Society NKI1998-1854 NKI2004-3088 NKI2007-3756 Netherlands Organization of Scientific Research NWO 91109024 Pink Ribbon grant 110005 Biobanking and Molecular Resource Infrastructure (BBMRI) NWO 184.021.007/CP46 Hungarian Research and Technological Innovation Fund (KTIA)/Hungarian Scientific Research Fund (Orszagos Tudomanyos Kutatasi Alapprogramok (OTKA)) KTIA-OTKA CK-80745 KTIA-OTKA K-112228 Institut Catala d'Oncologia (ICO): contract grant sponsor: Asociacion Espanola Contra el Cancer Spanish Health Research Foundation Ramon Areces Foundation Instituto de Salud Carlos III (ISCIII) Catalan Health Institute Autonomous Government of Catalonia International Hereditary Cancer Center (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) PBZ_KBN_122/P05/2004 Icelandic Association "Walking for Breast Cancer Research" Landspitali University Hospital Research Fund Canadian Institutes of Health Research (CIHR) for the "CIHR Team in Familial Risks of Breast Cancer" program, Canadian Breast Cancer Research Alliance 019511 Ministry of Economic Development, Innovation and Export Trade PSR-SIIRI-701 Ministero della Salute and a "5 x 1,000" Istituto Oncologico Veneto grant Liga Portuguesa Contra o Cancro National Breast Cancer Foundation Queensland Cancer Fund Cancer Councils of New South Wales, Victoria, Tasmania and South Australia Cancer Foundation of Western Australia National Institutes of Health (NIH) through the National Cancer Institute (NCI) CA 116167 CA 128978 CA 176785 NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer CA116201 US Department of Defense Ovarian Cancer Idea award W81XWH-10-1-0341 Ministry of Health of the Czech Republic to Masaryk Memorial Cancer Institute MMCI 00209805 European Regional Development Fund State Budget of the Czech Republic (RECAMO) CZ. 1.05/2.1.00/03.0101 Charles University in Prague project UNCE204024 Robert and Kate Niehaus Clinical Cancer Genetics Initiative Intramural Research Program of the National Cancer Institute Westat, Inc, Rockville, MD, USA N02-CP-11019-50 N02-CP-65504 Clalit Health Services in Israel Israel Cancer Association Breast Cancer Research Foundation (BCRF), New York, NY, USA Russian Federation for Basic Research 11-04-00227 12-04-00928 12-04-01490 Federal Agency for Science and Innovations, Russia 02.740.11.0780 Ohio State University Comprehensive Cancer Center Istituto Toscano Tumori (ITT) Israeli Inherited Breast Cancer Consortium Swedish Breast Cancer Swedish Cancer Society Ralph and Marion Falk Medical Research Trust Entertainment Industry Fund National Women's Cancer Research Alliance University of California, Los Angeles Jonsson Comprehensive Cancer Center Foundation: Breast Cancer Research Foundation University of California, San Francisco Cancer Risk Program and Helen Diller Family Comprehensive Cancer Center Cancer Research UK University of Pennsylvania: National Institutes of Health (NIH) R01 CA102776 R01 CA083855 Susan G Komen for the Cure, Basser Center for BRCA Victorian Familial Cancer Trials Group (VFCTG): Victorian Cancer Agency, Cancer Australia, National Breast Cancer Foundation 5U01 CA113916 R01 CA140323 ISCIIIRETIC RD06/0020/1051 PI09/02483 PI10/01422 PI10/00748 PI13/00285 PI13/00189 2009SGR290 PI13/00189 2009SGR283 CA125183 R01 CA142996 1U01CA161032

Published
2015

13. Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author

Couch, Fergus J., primary, Gaudet, Mia M., additional, Antoniou, Antonis C., additional, Ramus, Susan J., additional, Kuchenbaecker, Karoline B., additional, Soucy, Penny, additional, Beesley, Jonathan, additional, Chen, Xiaoqing, additional, Wang, Xianshu, additional, Kirchhoff, Tomas, additional, McGuffog, Lesley, additional, Barrowdale, Daniel, additional, Lee, Andrew, additional, Healey, Sue, additional, Sinilnikova, Olga M., additional, Andrulis, Irene L., additional, Ozcelik, Hilmi, additional, Mulligan, Anna Marie, additional, Thomassen, Mads, additional, Gerdes, Anne-Marie, additional, Jensen, Uffe Birk, additional, Skytte, Anne-Bine, additional, Kruse, Torben A., additional, Caligo, Maria A., additional, von Wachenfeldt, Anna, additional, Barbany-Bustinza, Gisela, additional, Loman, Niklas, additional, Soller, Maria, additional, Ehrencrona, Hans, additional, Karlsson, Per, additional, Nathanson, Katherine L., additional, Rebbeck, Timothy R., additional, Domchek, Susan M., additional, Jakubowska, Ania, additional, Lubinski, Jan, additional, Jaworska, Katarzyna, additional, Durda, Katarzyna, additional, Złowocka, Elżbieta, additional, Huzarski, Tomasz, additional, Byrski, Tomasz, additional, Gronwald, Jacek, additional, Cybulski, Cezary, additional, Górski, Bohdan, additional, Osorio, Ana, additional, Durán, Mercedes, additional, Tejada, María Isabel, additional, Benitez, Javier, additional, Hamann, Ute, additional, Hogervorst, Frans B.L., additional, van Os, Theo A., additional, van Leeuwen, Flora E., additional, Meijers-Heijboer, Hanne E.J., additional, Wijnen, Juul, additional, Blok, Marinus J., additional, Kets, Marleen, additional, Hooning, Maartje J., additional, Oldenburg, Rogier A., additional, Ausems, Margreet G.E.M., additional, Peock, Susan, additional, Frost, Debra, additional, Ellis, Steve D., additional, Platte, Radka, additional, Fineberg, Elena, additional, Evans, D. Gareth, additional, Jacobs, Chris, additional, Eeles, Rosalind A., additional, Adlard, Julian, additional, Davidson, Rosemarie, additional, Eccles, Diana M., additional, Cole, Trevor, additional, Cook, Jackie, additional, Paterson, Joan, additional, Brewer, Carole, additional, Douglas, Fiona, additional, Hodgson, Shirley V., additional, Morrison, Patrick J., additional, Walker, Lisa, additional, Porteous, Mary E., additional, Kennedy, M. John, additional, Side, Lucy E., additional, Bove, Betsy, additional, Godwin, Andrew K., additional, Stoppa-Lyonnet, Dominique, additional, Fassy-Colcombet, Marion, additional, Castera, Laurent, additional, Cornelis, François, additional, Mazoyer, Sylvie, additional, Léoné, Mélanie, additional, Boutry-Kryza, Nadia, additional, Bressac-de Paillerets, Brigitte, additional, Caron, Olivier, additional, Pujol, Pascal, additional, Coupier, Isabelle, additional, Delnatte, Capucine, additional, Akloul, Linda, additional, Lynch, Henry T., additional, Snyder, Carrie L., additional, Buys, Saundra S., additional, Daly, Mary B., additional, Terry, MaryBeth, additional, Chung, Wendy K., additional, John, Esther M., additional, Miron, Alexander, additional, Southey, Melissa C., additional, Hopper, John L., additional, Goldgar, David E., additional, Singer, Christian F., additional, Rappaport, Christine, additional, Tea, Muy-Kheng M., additional, Fink-Retter, Anneliese, additional, Hansen, Thomas V.O., additional, Nielsen, Finn C., additional, Arason, Aðalgeir, additional, Vijai, Joseph, additional, Shah, Sohela, additional, Sarrel, Kara, additional, Robson, Mark E., additional, Piedmonte, Marion, additional, Phillips, Kelly, additional, Basil, Jack, additional, Rubinstein, Wendy S., additional, Boggess, John, additional, Wakeley, Katie, additional, Ewart-Toland, Amanda, additional, Montagna, Marco, additional, Agata, Simona, additional, Imyanitov, Evgeny N., additional, Isaacs, Claudine, additional, Janavicius, Ramunas, additional, Lazaro, Conxi, additional, Blanco, Ignacio, additional, Feliubadalo, Lidia, additional, Brunet, Joan, additional, Gayther, Simon A., additional, Pharoah, Paul P.D., additional, Odunsi, Kunle O., additional, Karlan, Beth Y., additional, Walsh, Christine S., additional, Olah, Edith, additional, Teo, Soo Hwang, additional, Ganz, Patricia A., additional, Beattie, Mary S., additional, van Rensburg, Elizabeth J., additional, Dorfling, Cecelia M., additional, Diez, Orland, additional, Kwong, Ava, additional, Schmutzler, Rita K., additional, Wappenschmidt, Barbara, additional, Engel, Christoph, additional, Meindl, Alfons, additional, Ditsch, Nina, additional, Arnold, Norbert, additional, Heidemann, Simone, additional, Niederacher, Dieter, additional, Preisler-Adams, Sabine, additional, Gadzicki, Dorothea, additional, Varon-Mateeva, Raymonda, additional, Deissler, Helmut, additional, Gehrig, Andrea, additional, Sutter, Christian, additional, Kast, Karin, additional, Fiebig, Britta, additional, Heinritz, Wolfram, additional, Caldes, Trinidad, additional, de la Hoya, Miguel, additional, Muranen, Taru A., additional, Nevanlinna, Heli, additional, Tischkowitz, Marc D., additional, Spurdle, Amanda B., additional, Neuhausen, Susan L., additional, Ding, Yuan Chun, additional, Lindor, Noralane M., additional, Fredericksen, Zachary, additional, Pankratz, V. Shane, additional, Peterlongo, Paolo, additional, Manoukian, Siranoush, additional, Peissel, Bernard, additional, Zaffaroni, Daniela, additional, Barile, Monica, additional, Bernard, Loris, additional, Viel, Alessandra, additional, Giannini, Giuseppe, additional, Varesco, Liliana, additional, Radice, Paolo, additional, Greene, Mark H., additional, Mai, Phuong L., additional, Easton, Douglas F., additional, Chenevix-Trench, Georgia, additional, Offit, Kenneth, additional, and Simard, Jacques, additional

Published
2012
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14. Altered Gene Expression in Morphologically Normal Epithelial Cells from Heterozygous Carriers of BRCA1 or BRCA2 Mutations

Author

Bellacosa, Alfonso, primary, Godwin, Andrew K., additional, Peri, Suraj, additional, Devarajan, Karthik, additional, Caretti, Elena, additional, Vanderveer, Lisa, additional, Bove, Betsy, additional, Slater, Carolyn, additional, Zhou, Yan, additional, Daly, Mary, additional, Howard, Sharon, additional, Campbell, Kerry S., additional, Nicolas, Emmanuelle, additional, Yeung, Anthony T., additional, Clapper, Margie L., additional, Crowell, James A., additional, Lynch, Henry T., additional, Ross, Eric, additional, Kopelovich, Levy, additional, and Knudson, Alfred G., additional

Published
2010
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21. Communication of <TOGGLE>BRCA1</TOGGLE> and <TOGGLE>BRCA2</TOGGLE> results to at-risk relatives: A cancer risk assessment program's experience

Author

Costalas, Josephine Wagner, Itzen, Mark, Malick, John, Babb, James S., Bove, Betsy, Godwin, Andrew K., and Daly, Mary B.

Abstract

We describe results from a survey designed to assess patterns of communication within families shortly after an individual receives results of BRCA1 and BRCA2 mutation carrier status. Shortly after disclosure of BRCA1 and BRCA2 genetic test results, the proband was contacted by phone to administer the post disclosure survey. Questions asked included whether they had shared their results with their siblings or adult children, if there were difficulties in communicating the test results, and if there was any distress associated with the sharing of results. A total of 162 women who have received results from BRCA1 and BRCA2 genetic testing participated in the survey. The probands shared their results more often with their female than their male relatives (P &lt; 0.001). Probands who had tested positive for a mutation in the BRCA1 or BRCA2 gene shared their results more often with their relatives than did probands who were not carriers (P = 0.002). Probands reported more often that their siblings rather than their adult children had difficulties understanding the results (P = 0.001). The probands who were carriers more often reported having difficulties explaining their results to their relatives (P &lt; 0.001) and their relatives were upset on hearing the result more often than were the relatives of probands who were not carriers (P &lt; 0.001). The probands who were carriers reported more often that they were upset explaining their results to their relatives than did the probands who were not carriers (P &lt; 0.001). Individuals are disclosing their test results to their relatives. Probands who are BRCA1- or BRCA2-positive are more likely to experience difficulty and distress with the communication of their test results to family members. © 2002 Wiley-Liss, Inc.

Published
2003
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22. Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author

Cornelis, Franco̧is, Peterlongo, Paolo, Tejada, María Isabel, Karlsson, Per, Hansen, Thomas V.O., Domchek, Susan M., Sutter, Christian, Godwin, Andrew K., Janavicius, Ramunas, Thomassen, Mads, Kirchhoff, Tomas, Lindor, Noralane M., Van Rensburg, Elizabeth J., Ewart-Toland, Amanda, Agata, Simona, McGuffog, Lesley, Coupier, Isabelle, Evans, D. Gareth, Andrulis, Irene L., Zołwocka, Elzbieta, Fineberg, Elena, Peissel, Bernard, Engel, Christoph, Kennedy, M. John, Meijers-Heijboer, Hanne E.J., Ehrencrona, Hans, Niederacher, Dieter, Porteous, Mary E., Eccles, Diana M., Caligo, Maria A., Rubinstein, Wendy S., Ganz, Patricia A., Huzarski, Tomasz, Tea, Muy Kheng M., Kruse, Torben A., Imyanitov, Evgeny N., Chenevix-Trench, Georgia, Kwong, Ava, Simard, Jacques, Healey, Sue, Varesco, Liliana, Von Wachenfeldt, Anna, Teo, Soo Hwang, Terry, Mary Beth, Buys, Saundra S., Wang, Xianshu, Caron, Olivier, Barile, Monica, Caldes, Trinidad, Beattie, Mary S., Brewer, Carole, Gerdes, Anne Marie, Spurdle, Amanda B., Sarrel, Kara, Miron, Alexander, Mai, Phuong L., Sinilnikova, Olga M., Peock, Susan, Lazaro, Conxi, Byrski, Tomasz, Fredericksen, Zachary, Wakeley, Katie, Brunet, Joan, Van Leeuwen, Flora E., Stoppa-Lyonnet, Dominique, Durań, Mercedes, Couch, Fergus J., Varon-Mateeva, Raymonda, Castera, Laurent, Giannini, Giuseppe, Chung, Wendy K., Lubinski, Jan, Heinritz, Wolfram, Muranen, Taru A., Bernard, Loris, Preisler-Adams, Sabine, Arnold, Norbert, Lynch, Henry T., Kets, Marleen, Diez, Orland, Platte, Radka, Karlan, Beth Y., Loman, Niklas, Daly, Mary B., Chen, Xiaoqing, Odunsi, Kunle O., Snyder, Carrie L., Douglas, Fiona, Hopper, John L., Radice, Paolo, Dorfling, Cecelia M., Arason, Aoalgeir, Jacobs, Chris, Basil, Jack, Piedmonte, Marion, Viel, Alessandra, Jaworska, Katarzyna, Pujol, Pascal, Mulligan, Anna Marie, Jensen, Uffe Birk, Fassy-Colcombet, Marion, Rebbeck, Timothy R., Gehrig, Andrea, Goŕski, Bohdan, Rappaport, Christine, Osorio, Ana, Benitez, Javier, Ditsch, Nina, Kast, Karin, Paterson, Joan, Nevanlinna, Heli, Southey, Melissa C., Goldgar, David E., Manoukian, Siranoush, Bove, Betsy, Boutry-Kryza, Nadia, Durda, Katarzyna, Heidemann, Simone, Kuchenbaecker, Karoline B., Walsh, Christine S., Deissler, Helmut, Meindl, Alfons, Van Os, Theo A., Ozcelik, Hilmi, Phillips, Kelly, Wijnen, Juul, Delnatte, Capucine, Gaudet, Mia M., Morrison, Patrick J., Fink-Retter, Anneliese, De La Hoya, Miguel, Bressac-de Paillerets, Brigitte, Leóne, Meĺanie, Zaffaroni, Daniela, Hodgson, Shirley V., Nielsen, Finn C., Mazoyer, Sylvie, Walker, Lisa, Ausems, Margreet G.E.M., Eeles, Rosalind A., Robson, Mark E., Side, Lucy E., Pharoah, Paul P.D., Antoniou, Antonis C., Lee, Andrew, Greene, Mark H., Adlard, Julian, Gadzicki, Dorothea, Fiebig, Britta, Singer, Christian F., Blok, Marinus J., Soucy, Penny, Easton, Douglas F., Gayther, Simon A., Barrowdale, Daniel, Beesley, Jonathan, Ding, Yuan Chun, Jakubowska, Ania, Davidson, Rosemarie, Schmutzler, Rita K., Boggess, John, Skytte, Anne Bine, Olah, Edith, Hogervorst, Frans B.L., Montagna, Marco, Ramus, Susan J., Vijai, Joseph, Barbany-Bustinza, Gisela, Tischkowitz, Marc D., Offit, Kenneth, Oldenburg, Rogier A., Neuhausen, Susan L., Ellis, Steve D., Cole, Trevor, Cook, Jackie, Pankratz, V. Shane, Soller, Maria, Blanco, Ignacio, Isaacs, Claudine, Frost, Debra, Feliubadalo, Lidia, Akloul, Linda, Shah, Sohela, Hamann, Ute, John, Esther M., Cybulski, Cezary, Wappenschmidt, Barbara, Nathanson, Katherine, Hooning, Maartje J., and Gronwald, Jacek

Subjects
endocrine system diseases, skin and connective tissue diseases, 3. Good health
Abstract

Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

23. Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Author

Antoniou, Antonis, Kuchenbaecker, Karoline, Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Lee, Andrew, Barrowdale, Daniel, Healey, Sue, Sinilnikova, Olga, Caligo, Maria, Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Rosenquist, Richard, Karlsson, Per, Nathanson, Kate, Domchek, Susan, Rebbeck, Tim, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Złowowcka-Perłowska, Elżbieta, Osorio, Ana, Durán, Mercedes, Andrés, Raquel, Benítez, Javier, Hamann, Ute, Hogervorst, Frans, Van Os, Theo, Verhoef, Senno, Meijers-Heijboer, Hanne, Wijnen, Juul, Gómez Garcia, Encarna, Ligtenberg, Marjolijn, Kriege, Mieke, Collée, J. Margriet, Ausems, Margreet, Oosterwijk, Jan, Peock, Susan, Frost, Debra, Ellis, Steve, Platte, Radka, Fineberg, Elena, Evans, D. Gareth, Lalloo, Fiona, Jacobs, Chris, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Douglas, Fiona, Brewer, Carole, Hodgson, Shirley, Morrison, Patrick, Walker, Lisa, Rogers, Mark, Donaldson, Alan, Dorkins, Huw, Godwin, Andrew, Bove, Betsy, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Buecher, Bruno, De Pauw, Antoine, Mazoyer, Sylvie, Calender, Alain, Léoné, Mélanie, Bressac-De Paillerets, Brigitte, Caron, Olivier, Sobol, Hagay, Frenay, Marc, Prieur, Fabienne, Ferrer, Sandra, Mortemousque, Isabelle, Buys, Saundra, Daly, Mary, Miron, Alexander, Terry, Mary Beth, Hopper, John, John, Esther, Southey, Melissa, Goldgar, David, Singer, Christian, Fink-Retter, Anneliese, Tea, Muy-Kheng, Kaulich, Daphne, Hansen, Thomas, Nielsen, Finn, Barkardottir, Rosa, Gaudet, Mia, Kirchhoff, Tomas, Joseph, Vijai, Dutra-Clarke, Ana, Offit, Kenneth, Piedmonte, Marion, Kirk, Judy, Cohn, David, Hurteau, Jean, Byron, John, Fiorica, James, Toland, Amanda, Montagna, Marco, Oliani, Cristina, Imyanitov, Evgeny, Isaacs, Claudine, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, Teulé, Alex, Valle, J. Del, Gayther, Simon, Odunsi, Kunle, Gross, Jenny, Karlan, Beth, Olah, Edith, Teo, Soo-Hwang, Ganz, Patricia, Beattie, Mary, Dorfling, Cecelia, Van Rensburg, Elizabeth, Diez, Orland, Kwong, Ava, Schmutzler, Rita, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Heidemann, Simone, Niederacher, Dieter, Preisler-Adams, Sabine, Gadzicki, Dorothea, Varon-Mateeva, Raymonda, Deissler, Helmut, Gehrig, Andrea, Sutter, Christian, Kast, Karin, Fiebig, Britta, Schäfer, Dieter, Caldes, Trinidad, De La Hoya, Miguel, Nevanlinna, Heli, Muranen, Taru, Lespérance, Bernard, Spurdle, Amanda, Neuhausen, Susan, Ding, Yuan, Wang, Xianshu, Fredericksen, Zachary, Pankratz, Vernon, Lindor, Noralane, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Bonanni, Bernardo, Bernard, Loris, Dolcetti, Riccardo, Papi, Laura, Ottini, Laura, Radice, Paolo, Greene, Mark, Loud, Jennifer, Andrulis, Irene, Ozcelik, Hilmi, Mulligan, Anna, Glendon, Gord, Thomassen, Mads, Gerdes, Anne-Marie, Jensen, Uffe, Skytte, Anne-Bine, Kruse, Torben, Chenevix-Trench, Georgia, Couch, Fergus, Simard, Jacques, and Easton, Douglas

Subjects
FOS: Biological sciences, Genetics, skin and connective tissue diseases, 3. Good health
Abstract

Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 × 10-4). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 × 10-5, P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 × 10-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers.

24. Long survival in a 69,XXY triploid male

Author

Sherard, J., primary, Bean, Charles, additional, Bove, Betsy, additional, DelDuca, Vincent, additional, Esterly, K. L., additional, Karcsh, Henry J., additional, Munshi, Gaurang, additional, Reamer, James F., additional, Suazo, Gloria, additional, Wilmoth, Donna, additional, Dahlke, Mariam B., additional, Weiss, Carol, additional, Borgaonkar, Digamber S., additional, and Reynolds, James F., additional

Published
1986
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25. Communication of BRCA1 and BRCA2 results to at-risk relatives: a cancer risk assessment program's experience.

Author

Wagner Costalas J, Itzen M, Malick J, Babb JS, Bove B, Godwin AK, and Daly MB

Subjects
Adolescent, Adult, Aged, Breast Neoplasms psychology, Communication, Data Collection, Family, Family Health, Female, Genetic Testing psychology, Humans, Middle Aged, Ovarian Neoplasms psychology, Risk Assessment, Stress, Psychological, Breast Neoplasms diagnosis, Disclosure, Genes, BRCA1, Genes, BRCA2, Ovarian Neoplasms diagnosis
Abstract

We describe results from a survey designed to assess patterns of communication within families shortly after an individual receives results of BRCA1 and BRCA2 mutation carrier status. Shortly after disclosure of BRCA1 and BRCA2 genetic test results, the proband was contacted by phone to administer the post disclosure survey. Questions asked included whether they had shared their results with their siblings or adult children, if there were difficulties in communicating the test results, and if there was any distress associated with the sharing of results. A total of 162 women who have received results from BRCA1 and BRCA2 genetic testing participated in the survey. The probands shared their results more often with their female than their male relatives (P < 0.001). Probands who had tested positive for a mutation in the BRCA1 or BRCA2 gene shared their results more often with their relatives than did probands who were not carriers (P = 0.002). Probands reported more often that their siblings rather than their adult children had difficulties understanding the results (P = 0.001). The probands who were carriers more often reported having difficulties explaining their results to their relatives (P < 0.001) and their relatives were upset on hearing the result more often than were the relatives of probands who were not carriers (P < 0.001). The probands who were carriers reported more often that they were upset explaining their results to their relatives than did the probands who were not carriers (P < 0.001). Individuals are disclosing their test results to their relatives. Probands who are BRCA1- or BRCA2-positive are more likely to experience difficulty and distress with the communication of their test results to family members., (Copyright 2002 Wiley-Liss, Inc.)

Published
2003
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