Arnold, Norbert
Mayo Clinic
Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.
Citations 5
Breast and Prostate Cancer Risks for MaleBRCA1andBRCA2Pathogenic Variant Carriers Using Polygenic Risk Scores
Barnes, Daniel R. , Silvestri, Valentina , Leslie, Goska , McGuffog, Lesley, Yang, Xin , Adlard, Julian , Agnarsson, Bjarni A. , Ahmed, Munaza, Aittomäki, Kristiina, Andrulis, Irene L. , Arason, Aðalgeir , Azzollini, Jacopo , Barkardóttir, Rósa B. , Barrowdale, Daniel , Belotti, Muriel, Berthet, Pascaline, Boonen, Susanne E. , Borg, Åke , Brady, Angela F., Brewer, Carole, Brunet, Joan , Bucalo, Agostino, Caldés, Trinidad , Cassingham, Hayley , Christensen, Lise Lotte , Cini, Giulia , Claes, Kathleen , Collaborators, GEMO Study, Collaborators, EMBRACE, Cortesi, Laura , Damante, Giuseppe , Darder, Esther , Davidson, Rosemarie, Leeneer, Kim De , Putter, Robin De , Valle, Jesús Del , Ding, Yuan Chun , Donaldson, Alan , Eason, Jacqueline , Eeles, Rosalind A. , Engel, Christoph , Evans, D. Gareth , Feliubadaló, Lídia , Frone, Megan N. , Frost, Debra, Gehrig, Andrea, Giraud, Sophie , Glendon, Gord , Goldgar, David E. , Greene, Mark H. , Gregory, Helen , Groß, Eva, Hahnen, Eric, Hamann, Ute, Hansen, Thomas van Overeem , Hanson, Helen , Horváth, Judit , Investigators, KConFab, Investigators, HEBON, Izatt, Louise , James, Paul A. , Janavičius, Ramūnas , Jensen, Uffe Birk , Johannsson, Oskar T., John, Esther M. , Kramer, Gero , Kroeldrup, Lone , Kruse, Torben A. , Lautrup, Charlotte Kvist , López‐Fernández, Adrià , Mai, Phuong L, Manoukian, Siranoush , Mátrai, Zoltán , Matricardi, Laura , Mebirouk, Noura, Meindl, Alfons , Montagna, Marco , Monteiro, Álvaro N.A. , Morrison, Patrick J. , Muranen, Taru , Nathanson, Katherine L. , Niederacher, Dieter , Oláh, Edith , Olopade, Olufunmilayo I. , Pedersen, Inge Søkilde , Peissel, Bernard , Peterlongo, Paolo , Petersen, Annabeth Høgh , Pinto, Pedro, Porteous, Mary, Pottinger, Caroline , Pujana, Miquel Angel, Ramser, Juliane, Rantala, Johanna, Rogers, Mark T., Rønlund, Karina, Abajo, A.M. SÁnchez De, Shah, Payal D. , Sharif, Saba , Side, Lucy, Stadler, Zsofia, Steele, Linda , Sutter, Christian , Tan, Yen Y. , Teixeira, Manuel R. , Teulé, Àlex , Thull, Darcy L. , Trainer, Alison H., Tripathi, Vishakha , Valentini, Virginia , Viel, Alessandra , Walker, Lisa, Wang‐Gohrke, Shan , Wappenschmidt, Barbara , Whaite, Anna , Offit, Kenneth, Thomassen, Mads , Schmutzler, Rita K., Simard, Jacques , Easton, Douglas F. , Chenevix‐Trench, Georgia , Antoniou, Antonis C. , Pujana, Miguel Ángel , Dennis, Joe , Yang, Xin , Adlard, Julian , Agnarsson, Bjarni A , Andrulis, Irene L , Arason, Adalgeir , Arnold, Norbert , Auber, Bernd , Azzollini, Jacopo , Barkardottir, Rosa B , Barrowdale, Daniel , Benitez, Javier , Boonen, Susanne E , Bozsik, Aniko , Brennan, Paul , Brunet, Joan , Bucalo, Agostino , Caligo, Maria A , Campbell, Ian G , Cassingham, Hayley , Cini, Giulia , Claes, Kathleen B M , Coppa, Anna , Cortesi, Laura , Darder, Esther , de la Hoya, Miguel , de Putter, Robin , Del Valle, Jesús , Domchek, Susan M , Donaldson, Alan , Eason, Jacqueline , Engel, Christoph , Fostira, Florentia , Frone, Megan , Glendon, Gord , Godwin, Andrew K. , Greene, Mark H , Hahnen, Eric , Hanson, Helen , Izatt, Louise , Izquierdo, Angel , James, Paul , John, Esther M , Kroeldrup, Lone , Kruse, Torben A , Lazaro, Conxi , Lesueur, Fabienne , Matrai, Zoltan , Montagna, Marco , Monteiro, Alvaro N , Morrison, Patrick J , Muranen, Taru A , Nathanson, Katherine L , Neuhausen, Susan L. , Nevanlinna, H , Nguyen-Dumont, Tu , Niederacher, Dieter , Palli, Domenico , Parsons, Michael T , Perez-Segura, Pedro , Peterlongo, Paolo , Pinto, Pedro , Pottinger, Caroline , Radice, Paolo , Robson, Mark , Rump, Andreas , Sharif, Saba , Steele, Linda , Stoppa-Lyonnet, Dominique , Teixeira, Manuel R , Thull, Darcy L , Tischkowitz, Marc D. , Toland, Amanda Ewart , Tommasi, Stefania , Toss, Angela , Tripathi, Vishakha , Valentini, Virginia , van Asperen, Christi J , Venturelli, Marta , Viel, Alessandra , Joseph, Vijai , Whaite, Anna , Simard, Jacques , Easton, Doug , Chenevix-Trench, Georgia , Ottini, Laura , Barnes, Daniel R , Leslie, Goska , Pujana, Miquel Angel , Eeles, Rosalind A , Evans, D Gareth , Matricardi, Laura , Olopade, Olufunmilayo I , Silvestri, Valentina , De Leeneer, Kim , Feliubadaló, Lidia , Hansen, Thomas van Overeem , Manoukian, Siranoush , Arnold, Norbert , Auber, Bernd , Balmañà, Judith , Barwell, Julian , Benı́tez, Javier , Bozsik, Anikó , Brady, Angela F., Buys, Saundra S. , Caligo, Maria A. , Campbell, Ian , Collaborators, GEMO Study, Collaborators, EMBRACE, Cook, Jackie A , Hoya, Miguel de la , Dı́ez, Orland , Domchek, Susan M. , Gallagher, David James , Hentschel, Julia , Investigators, KConFab, Investigators, HEBON, Izquierdo, Á. , Lázaro, Conxi , Lesueur, Fabienne , Mai, Phuong L, Maxwell, Kara N. , Meindl, Alfons , Nevanlinna, Heli , Nguyen‐Dumont, Tú , Palli, Domenico , Parsons, Michael T. , Radice, Paolo , Robson, Mark E. , Rump, Andreas , Singer, Christian F. , Stoppa‐Lyonnet, Dominique , Asperen, Christi J. van , Vijai, Joseph , Zanna, Ines , Couch, Fergus J. , Ottini, Laura
JNCI: Journal of the National Cancer Institute | July 26, 2021 | Volume: 114 | Issue: 1 | Pages: 109-122
AbstractBackgroundRecent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers.Methods483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)–negative (PRSER-), or ER-positive (PRSER+) breast cancer risk.ResultsPRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions.ConclusionsPopulation-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management.
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness
Patel, Vivek , Busch, Evan L. , Cronin, Angel M., Leslie, Goska , McGuffog, Lesley, Adlard, Julian , Agata, Simona , Agnarsson, Bjarni A. , Ahmed, Munaza, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L. , Arason, Aðalgeir , Artioli, Grazia, Arver, Brita, Auber, Bernd , Azzollini, Jacopo , Barkardóttir, Rósa B. , Barroso, Alicia, Barrowdale, Daniel , Belotti, Muriel, Bertelsen, Birgitte , Blok, Marinus J. , Bodrogi, I., Bonadona, Valérie, Bondavalli, Davide , Boonen, Susanne E. , Borde, Julika , Borg, Åke , Bradbury, Angela R. , Brady, Angela, Brewer, Carole, Brunet, Joan , Buecher, Bruno , Caldés, Trinidad , Caliebe, Almuth , Calvello, Mariarosaria , Carrasco, Estela , Chan, Tsun Leung , Claes, Kathleen , Collaborators, GEMO Study, Collaborators, EMBRACE, Cortesi, Laura , Daly, Mary B., Damante, Giuseppe , Darder, Esther , Davidson, Rosemarie, Puppa, Lara Della , Ding, Yuan Chun , Ditsch, Nina , Donaldson, Alan, Dworniczak, Bernd , Easton, Douglas F. , Eccles, Diana M., Eeles, Rosalind A. , Ehrencrona, Hans , Ejlertsen, Bent , Engel, Christoph , Evans, D. Gareth , Faivre, Laurence, Faust, Ulrike , Feliubadaló, Lídia , Foretová, Lenka , Fountzilas, George , Frost, Debra, García‐Barberán, Vanesa , Gauthier‐Villars, Marion , Géczi, Lajos , Gehrig, Andrea, Gesta, Paul , Giannini, Giuseppe , Glendon, Gord , Goldgar, David E. , Greene, Mark H. , Gutierrez‐Barrera, Angelica M. , Hahnen, Eric , Hamann, Ute, Hauke, Jan , Herold, Natalie, Hogervorst, Frans B.L., Honisch, Ellen, Hulick, Peter J. , Investigators, kConFab, Investigators, Hebon, Izatt, Louise , Jager, Agnes , James, Paul A. , Janavičius, Ramūnas , Jensen, Uffe Birk , Jensen, Thomas D., Johannsson, Oskar T., John, Esther M. , Kang, Eunyoung , Kast, Karin, Kiiski, Johanna I. , Kim, Sung-Won, Ko, Kwang‐Pil , Konstantopoulou, Irene , Kramer, Gero , Krogh, Lotte, Kruse, Torben A., Kwong, Ava , Larsen, Mirjam, Lasset, Christine , Lautrup, Charlotte Kvist , Lee, Jihyoun , Lee, Jong Won, Lee, Min Hyuk , Lesueur, Fabienne , Liljegren, Annelie , Lindblom, Annika , Llovet, Patricia , López‐Fernández, Adrià , López‐Perolio, Irene, Lorca, Víctor , Loud, Jennifer T. , S.K., Edmond , Mai, Phuong L., Manoukian, Siranoush , Mari, Véronique , Martin, Lynn , Matricardi, Laura , Mebirouk, Noura, Medici, Veronica, Meijers‐Heijboer, Hanne , Meindl, Alfons , Mensenkamp, Arjen R. , Miller, Clare , Gomes, D. Molina , Montagna, Marco , Mooij, Thea M. , Mouret‐Fourme, Emmanuelle, Nathanson, Katherine L. , Navrátilová, Marie , Niederacher, Dieter , Nielsen, Finn C., Ņikitina-Zaķe, Liene , Offit, Kenneth, Oláh, Edith , Olopade, Olufunmilayo I. , Ong, Kai-Ren, Osório, Ana , Ott, Claus‐Eric , Park, Sue K. , Pedersen, Inge Søkilde , Peissel, Bernard , Peixoto, Ana , Peterlongo, Paolo , Petersen, Annabeth Høgh , Porteous, Mary, Pujana, Miguel Ángel , Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad Usman , Rhiem, Kerstin, Rizzolo, Piera , Rookus, Matti A. , Rossing, Caroline Maria, Ruddy, Kathryn J. , Santos, Catarina , Saule, Claire , Scarpitta, Rosa , Schmutzler, Rita K., Schuster, Hélène, Senter, Leigha , Seynaeve, Caroline, Shah, Payal D. , Silvestri, Valentina , Simard, Jacques , Skytte, Anne‐Bine , Snape, Katie , Solano, Ángela R. , Soucy, Penny, Sunde, Lone , Sutter, Christian , Tan, Yen Y. , Teixeira, Manuel R. , Teo, Soo‐Hwang , Thomassen, Mads , Tibiletti, Maria Grazia , Toland, Amanda Ewart, Torres, Diana , Trainer, Alison H., Baan, Frederieke H. van der , Kolk, Lizet E. van der, Hest, Liselotte P. van , Varesco, Liliana , Varon-Mateeva, Raymonda, Viel, Alessandra , Vierstraete, Jeroen , Villa, Roberta, Wachenfeldt, Anna von , Wagner, Philipp , Wang‐Gohrke, Shan , Wappenschmidt, Barbara , Weitzel, Jeffrey N. , Wieme, Greet , Yadav, Siddhartha , Yoon, Sook‐Yee , Zanzottera, Cristina , Zorn, Kristin K. , D’Amico, Anthony V. , Freedman, Matthew L. , Pomerantz, Mark M., Chenevix‐Trench, Georgia , Antoniou, Antonis C. , Ottini, Laura , Nielsen, Henriette Roed, Durocher, Francine , Eccles, Diana , Caputo, Sandrine M. , Faivre, Laurence , Leslie, Goska , Adlard, Julian , Arnold, Norbert , Auber, Bernd , Azzollini, Jacopo , Barnes, Daniel R , Brunet, Joan , Caligo, Maria A , Campbell, Ian G , Claes, Kathleen B M , Darder, Esther , Dennis, Joe , Dworniczak, Bernd , Eeles, Rosalind A , Ehrencrona, Hans , Ejlertsen, Bent , Evans, D Gareth , Garre, Pilar , Greene, Mark H , Hulick, Peter J , Jager, Agnes , James, Paul , John, Esther M , Joseph, Vijai , Kim, Sung-Won , Konstantopoulou, Irene , Lesueur, Fabienne , Matricardi, Laura , Gomes, Denise Molina , Nevanlinna, H , Olopade, Olufunmilayo I , Palli, Domenico , Park, Sue K , Parsons, Michael T , Peterlongo, Paolo , Petersen, Annabeth Høgh , Pujana, Miquel Angel , Ruddy, Kathryn J , Scarpitta, Rosa , Shah, Payal D , Silvestri, Valentina , Southey, Melissa C , Spurdle, Amanda B , Stoppa-Lyonnet, Dominique , Sunde, Lone , Teixeira, Manuel R , Teo, Soo H , Tommasi, Stefania , Toss, Angela , van der Luijt, Rob B , Vierstraete, Jeroen , Wieme, Greet , Yadav, Siddhartha , Antoniou, Antonis C , Eccles, Diana , Weitzel, Jeffrey N , Torres, Diana , Nathanson, Katherine L , Arason, Adalgeir , Barrowdale, Daniel , Boonen, Susanne E , Cortesi, Laura , Engel, Christoph , Hahnen, Eric , Montagna, Marco , Viel, Alessandra , Simard, Jacques , Chenevix-Trench, Georgia , Ottini, Laura , Senter, Leigha , Faivre, Laurence , Rashid, Muhammad U , Calvello, Mariarosaria , Feliubadaló, Lidia , Hauke, Jan , Manoukian, Siranoush , Pomerantz, Mark M , Kwong, Ava , Lindblom, Annika , Friebel, Tara M. , Arnold, Norbert , Balmañà, Judith , Barnes, Daniel R. , Benı́tez, Javier , Bonadona, Valérie , Bonanni, Bernardo , Borg, Åke , Buys, Saundra S. , Cabezas-Camarero, Santiago , Caligo, Maria A. , Campbell, Ian , Carnevali, Ileana Wanda , Chu, Annie Tsz-Wai , Chung, Wendy K. , Cook, Jackie A , Couch, Fergus J. , Hoya, Miguel de la , Dı́ez, Orland , Domchek, Susan M. , Fostira, Florentia , Gerdes, Anne‐Marie , Godwin, Andrew K. , Herold, Natalie, Hopper, John L. , Jensen, Thomas Dyrso, Vijai, Joseph , Lasset, Christine , Lázaro, Conxi , Lemke, Johannes R. , Mai, Phuong L., Meindl, Alfons , Miller, Clare, Moserle, Lidia , Mulligan, Anna Marie , Nevanlinna, Heli , Palli, Domenico , Parsons, Michael T. , Perez-Segura, Pedro , Radice, Paolo , Rhiem, Kerstin , Robson, Mark E. , Sharma, Priyanka , Shin, Vivian Yvonne , Singer, Christian F. , Southey, Melissa C. , Spurdle, Amanda B. , Steele, Linda, Steinemann, Doris , Stoppa‐Lyonnet, Dominique , Stradella, Agostina , Tischkowitz, Marc D. , Tognazzo, Silvia , Toland, Amanda Ewart , Tung, Nadine , Asperen, Christi J. van , Luijt, Rob B. van der , Yannoukakos, Drakoulis , Neuhausen, Susan L. , Rebbeck, Timothy R.
Cancer Research | November 13, 2019 | Volume: 80 | Issue: 3 | Pages: 624-638
Abstract Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8+) prostate cancer using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with prostate cancer, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without prostate cancer. PSVs in the 3′ region of BRCA2 (c.7914+) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001-c.7913 [HR = 1.78; 95% confidence interval (CI), 1.25–2.52; P = 0.001], as well as elevated risk of Gleason 8+ prostate cancer (HR = 3.11; 95% CI, 1.63–5.95; P = 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR = 2.83; 95% CI, 1.71–4.68; P = 0.00004) and elevated risk of Gleason 8+ prostate cancer (HR = 4.95; 95% CI, 2.12–11.54; P = 0.0002). No genotype–phenotype associations were detected for PSVs in BRCA1. These results demonstrate that specific BRCA2 PSVs may be associated with elevated risk of developing aggressive prostate cancer. Significance: Aggressive prostate cancer risk in BRCA2 mutation carriers may vary according to the specific BRCA2 mutation inherited by the at-risk individual.
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
Gaudet, Mia M. , Antoniou, Antonis C. , Ramus, Susan J. , Kuchenbaecker, Karoline , Soucy, Penny, Chen, Xiaoqing, Kirchhoff, Tomas , McGuffog, Lesley, Barrowdale, Daniel , Healey, Sue, Sinilnikova, Olga M., Andrulis, Irene L. , Özçelik, Hilmi, Mulligan, Anna Marie , Thomassen, Mads , Gerdes, Anne‐Marie , Jensen, Uffe Birk , Skytte, Anne‐Bine , Kruse, Torben A., Caligo, Maria A. , Wachenfeldt, Anna von , Barbany, Gisela , Loman, Niklas, Soller, Maria , Ehrencrona, Hans , Karlsson, Per , Nathanson, Katherine L. , Rebbeck, Timothy R., Jakubowska, Anna , Lubiński, Jan , Jaworska, Katarzyna, Durda, Katarzyna, Złowocka, Elżbieta, Huzarski, Tomasz , Byrski, Tomasz , Cybulski, Cezary, Górski, Bohdan , Osório, Ana , Durán, M. , Tejada, María‐Isabel , Hamann, Ute, Hogervorst, Frans B.L., Os, Theo A. van, Leeuwen, Flora E. van , Meijers‐Heijboer, Hanne , Blok, Marinus J. , Kets, Marleen, Hooning, Maartje J. , Oldenburg, Rogier A., Ausems, Margreet G.E.M. , Peock, Susan, Frost, Debra, Ellis, Steve D., Platte, Radka, Fineberg, Elena, Evans, D. Gareth , Jacobs, Chris , Eeles, Rosalind A. , Adlard, Julian , Davidson, Rosemarie, Eccles, Diana M., Cole, Trevor, Paterson, Joan, Brewer, Carole, Douglas, Fiona, Hodgson, Shirley V. , Walker, Lisa, Porteous, Mary, Kennedy, M. John, Side, Lucy, Bove, Betsy, Fassy-Colcombet, Marion, Castéra, Laurent , Cornelis, François, Mazoyer, Sylvie , Léoné, Mélanie, Boutry‐Kryza, Nadia, Paillerets, Brigitte Bressac–de , Coupier, Isabelle, Delnatte, Capucine, Akloul, Linda, Lynch, Henry T., Snyder, Carrie, Daly, Mary B., Terry, Mary Beth , John, Esther M. , Miron, Alexander, Southey, Melissa C. , Goldgar, David E., Singer, Christian F., Rappaport, Christine , Tea, Muy‐Kheng M., Fink-Retter, Anneliese, Hansen, Thomas van Overeem , Nielsen, Finn C., Arason, Aðalgeir , Vijai, Joseph , Shah, Sohela, Sarrel, Kara , Piedmonte, Marion, Phillips, Kelly, Basil, Jack, Rubinstein, Wendy S. , Boggess, John F., Wakeley, Katie, Montagna, Marco , Imyanitov, Evgeny N., Janavičius, Ramūnas , Lázaro, Conxi , Blanco, Ignacio , Feliubadaló, Lídia , Brunet, Joan , Gayther, Simon A. , Odunsi, Kunle , Walsh, Christine , Oláh, Edith , Teo, Soo‐Hwang , Ganz, Patricia A. , Beattie, Mary, Rensburg, Elizabeth J. van , Dorfling, Cecelia M., Dı́ez, Orland , Kwong, Ava , Schmutzler, Rita K., 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, Heinritz, Wolfram, Caldes, Trinidad, Hoya, Miguel de la , Muranen, Taru , Nevanlinna, Heli , Spurdle, Amanda B. , Ding, Yuan Chun , Lindor, Noralane M. , Fredericksen, Zachary, Pankratz, V. Shane , Peterlongo, Paolo , Manoukian, Siranoush , Peissel, Bernard , Zaffaroni, Daniela , Barile, Monica, Bernard, Loris, Viel, Alessandra , Giannini, Giuseppe , Varesco, Liliana , Radice, Paolo , Greene, Mark H. , Mai, Phuong L., Easton, Douglas F., Chenevix‐Trench, Georgia , Offit, Kenneth, Simard, Jacques , Durocher, Francine , Eccles, Diana , Thorne, Heather , Phillips, Kelly‐Anne , Couch, Fergus J. , Beesley, Jonathan , Chen, Xiaoqing, Wang, Xianshu , Lee, Andrew , Domchek, Susan M. , Gronwald, Jacek , Benı́tez, Javier , Wijnen, Juul , Eccles, Diana M., Cook, Jackie A , Morrison, Patrick J. , Kennedy, M. John, Godwin, Andrew K. , Stoppa‐Lyonnet, Dominique , Caron, Olivier , Pujol, Pascal , Buys, Saundra S. , Chung, Wendy K. , Hopper, John L. , Singer, Christian F. , Robson, Mark E. , Phillips, Kelly, Toland, Amanda Ewart , Agata, Simona , Isaacs, Claudine , Pharoah, Paul D.P. , Karlan, Beth Y. , Meindl, Alfons , Varon-Mateeva, Raymonda, Caldes, Trinidad, Tischkowitz, Marc D. , Neuhausen, Susan L. , Mai, Phuong L., Nevanlinna, H , Caligo, Maria A , Peterlongo, Paolo , Ramus, Susan J , Spurdle, Amanda B , Teo, Soo H , van Rensburg, Elizabeth J , Eccles, Diana , de la Hoya, Miguel , Diez, Orland , Radice, Paolo , Adlard, Julian , Arnold, Norbert , Brunet, Joan , Eeles, Rosalind A , Ehrencrona, Hans , Evans, D Gareth , John, Esther M , Joseph, Vijai , Southey, Melissa C , Jakubowska, Anna , Muranen, Taru A , Nathanson, Katherine L , Arason, Adalgeir , Barrowdale, Daniel , Engel, Christoph , Lazaro, Conxi , Montagna, Marco , Viel, Alessandra , Simard, Jacques , Chenevix-Trench, Georgia , Huzarski, Tomasz , Feliubadaló, Lidia , Hansen, Thomas van Overeem , Manoukian, Siranoush , Lubinski, Jan , Phillips, Kelly-Anne , Terry, Mary Beth , Kwong, Ava
Cancer Epidemiology, Biomarkers & Prevention | March 29, 2012 | Volume: 21 | Issue: 4 | Pages: 645-657
Abstract Background: 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). Methods: Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined. Results: We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07–1.27; P = 7.42 × 10−4] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73–0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94–1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers. We also found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05–1.29; P = 3.8 × 10−4) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10–1.52; P = 1.8 × 10−3). Conclusions: 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers. Impact: These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev; 21(4); 645–57. ©2012 AACR.
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
Cox, David G. , Simard, Jacques , Sinnett, Daniel , Hamdi, Yosr , Soucy, Penny, Ouimet, Manon , Barjhoux, Laure, Verny-Pierre, Carole, McGuffog, Lesley , Healey, Sue, Greene, Mark H. , Mai, Phuong L., Andrulis, Irene L. , Network, Ontario Cancer Genetics, Thomassen, Mads , Gerdes, Anne‐Marie , Caligo, Maria A. , Friedman, Eitan , Laitman, Yael , Paluch, Shani Shimon, Borg, Åke , Karlsson, Per , Askmalm, Marie Stenmark, Bustinza, Gisela Barbany, Collaborators, SWE-BRCA, Nathanson, Katherine L. , Rebbeck, Timothy R., Hamann, Ute, Rookus, Matti A. , Ouweland, Ans M.W. van den, Ausems, Margreet G.E.M. , Aalfs, Cora M. , Gille, Hans J. J. P., HEBON, EMBRACE, Peock, Susan, Frost, Debra, Evans, D. Gareth , Eeles, Rosalind A. , Izatt, Louise , Adlard, Julian, Paterson, Joan, Eason, Jacqueline, Remon, Marie-Alice, Moncoutier, Virginie, Gauthier‐Villars, Marion , Lasset, Christine, Giraud, Sophie , Hardouin, Agnès, Berthet, Pascaline, Sobol, Hagay , Eisinger, François , Paillerets, Brigitte Bressac–de , Delnatte, Capucine, Collaborators, GEMO Study, Goldgar, David E., Miron, Alex, Özçelik, Hilmi, Southey, Melissa C. , Terry, Mary Beth , Registry, The Breast Cancer Family, Dressler, Anne-Catharina, Tea, Muy‐Kheng M., Hansen, Thomas van Overeem , Jóhannsson, Óskar Þór, Piedmonte, Marion, Rodriguez, Gustavo C. , Basil, Jack, Blank, Stephanie V. , Montagna, Marco , Blanco, Ignacio , Gayther, Simon A. , Moysich, Kirsten B., Schmutzler, Rita K., Wappenschmidt, Barbara , Engel, Christoph , Meindl, Alfons , Ditsch, Nina , Arnold, Norbert , Niederacher, Dieter , Sutter, Christian , Gadzicki, Dorothea, Fiebig, Britta, Caldes, Trinidad, Laframboise, Rachel , Nevanlinna, Heli , Chen, Xiaoqing, Spurdle, Amanda B. , Ding, Yuan Chun , Peterlongo, Paolo , Manoukian, Siranoush , Bernard, Loris, Radice, Paolo , Easton, Douglas F. , Chenevix‐Trench, Georgia , Antoniou, Antonis C. , Mazoyer, Sylvie, Sinilnikova, Olga M., Sinilnikova, Olga M., Dumont, Martine, Mai, Phuong , Greene, MH, Glendon, Gord, Selander, Teresa, Weerasooriya, Nayana , Karlsson, Per, Nordling, Margareta , Bergman, Annika, Einbeigi, Zakaria , Stenmark-Askmalm, Marie, Liedgren, S, Borg, Åke, Loman, Niklas, Olsson, Håkan , Kristoffersson, Ulf , Harbst, Katja , Henriksson, Karin, Lindblom, Annika , Arver, Brita, Wachenfeldt, Anna von , Liljegren, Annelie, Rantala, Johanna, Melin, Beatrice , Grönberg, Henrik , Stattin, Eva‐Lena , Emanuelsson, Monica, Ehrencrona, Hans , Seidel‐Renkert, Antje, Hogervorst, Frans B.L., Verhoef, S., Verheus, Martijn, Veer, Laura J. van’t , Leeuwen, Flora E. van , Rookus, M.A., Collée, Margriet , Ouweland, A.M.W. van den, Jager, Agnes , Hooning, Maartje J. , Tilanus‐Linthorst, Madeleine M.A., Seynaeve, Caroline, Asperen, C.J. van, Tollenaar, R.A., Devilee, P., Ligtenberg, M.J., Hoogerbrugge, Nicoline , Ausems, M.G., Aalfs, C.M., Os, T.A. van, Gille, J.J.P., Waisfisz, Quinten , Meijers‐Heijboer, Hanne , Gómez, E. , Roozendaal, Cees E. Van, Blok, Marinus J. , Caanen, BA, Oosterwijk, Jan C., Hout, Annemarie H. van der, Mourits, M J E , Vasen, Hans F. A. , Easton, Douglas F., Peock, Susan, Cook, Margaret, Frost, Debra, Platte, Radka, Miedzybrodzka, Zosia , Gregory, Helen , Jeffers, Lisa, Cole, T, Ong, Kai-Ren, Hoffman, Jonathan , Donaldson, Alan, James, Margaret, Paterson, Joan, Downing, Sarah, Murray, Alexandra, Rogers, Mark T., McCann, Emma, Kennedy, M. John, Barton, David , Porteous, Mary, Drummond, Sarah, Brewer, Carole, Kivuva, Emma , Searle, Anne, Goodman, Selina , Hill, Kathryn , Davidson, Rosemarie, Murday, Victoria, Bradshaw, Nicola, Snadden, Lesley, Longmuir, Mark, Watt, Catherine, Gibson, Sarah , Haque, Eshika, Tobias, Edward S. , Duncan, Alexis E. , Izatt, Louise, Jacobs, Chris , Langman, Caroline, Whaite, Anna , Barwell, Julian, Adlard, Julian, Chu, Carol , Miller, Julie, Ellis, Ian O. , Evans, D. Gareth, Lalloo, Fiona, Side, Lucy, Male, Alison , Berlin, Cheryl, Eason, Jacqueline , Collier, Rebecca, Douglas, Fiona, Claber, Oonagh, Jobson, Irene, Walker, Lisa, McLeod, Diane M., Halliday, Dorothy , Durell, Sarah, Stayner, Barbara, Eeles, Ros, Shanley, Susan, Rahman, Nazneen , Bancroft, Elizabeth, D'Mello, Lucia, Page, Elizabeth, Ardern‐Jones, Audrey, Castro, Elena , Robertson, Lisa , Bardsley, Cathryn, Hodgson, Shirley, Goff, Sheila, Brice, Glen , Winchester, Lizzie, Eddy, Charlotte, Tripathi, Vishakha , Attard, Virginia, Eccles, Diana , Lucassen, Anneke , Crawford, Gillian, McBride, Donna, Smalley, Sarah, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Bancroft, Elizabeth, D'Mello, Lucia, Sinilnikova, Olga, Sinilnikova, Olga, Giraud, Sophie, Léone, Mélanie, Mazoyer, Sylvie , Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Buecher, Bruno, Houdayer, Claude , Moncoutier, Virginie, Belotti, Muriel, Tirapo, Carole, Pauw, Antoine de, Bressac-de-Paillerets, Brigitte, Remenieras, Audrey, Byrde, Véronique, Lenoir, Gilbert, Bignon, Yves‐Jean , Uhrhammer, Nancy , Lasset, Christine, Bonadona, Valérie, Berthet, Pascaline, Bourdon, Violaine , Noguchi, Tetsuro, Eisinger, François, Coulet, Florence , Colas, Chrystelle , Soubrier, Florent , Coupier, Isabelle, Peyrat, Jean‐Philippe, Révillion, Françoise, Vennin, Philippe, Adenis, Claude, Rouleau, Étienne , Lidereau, Rosette, Demange, Liliane, Noguès, Catherine , Muller, Danièle, Fricker, Jean‐Pierre , Longy, Michel , Sevenet, Nicolas, Toulas, Christine , Guimbaud, Rosine, Gladieff, Laurence , Feillel, Viviane, Leroux, Dominique, Dreyfus, Hélène, Rebischung, Christine , Coron, Fanny, Faivre, Laurence, Prieur, Fabienne, Lebrun, Marine, Ferrer, Sandra Fert, Frénay, Marc, Venat‐Bouvet, Laurence , Delnatte, Capucine, Mortemousque, Isabelle, Lynch, Henry T., Snyder, Carrie, Ejlertsen, Bent, Andersen, Mette Klarskov , Kjaergaard, Susanne, Sweet, Kevin , O’Connor, Michelle , Ramus, Susan, Pye, Carole, Wozniak, Eva , Varon-Mateeva, Raymonda, Kast, Karin, Preisler‐Adams, Sabine, Deißler, Helmut , Schönbuchner, Ines, Heinritz, Wolfram, Schäfer, Dieter, Aittomäki, Kristiina , Erkkilä, R.N. Irja, Thorne, Heather , Niedermayr, Eveline, Perez-Segura, Pedro, Durocher, Francine , John, Esther M. , Adlard, Julian , Stenmark‐Askmalm, Marie , Faivre, Laurence , Szabo, Csilla I. , Mai, Phuong L., Network, Ontario Cancer Genetics, Kaufman, Bella , Collaborators, SWE-BRCA, Domchek, Susan M. , Benı́tez, Javier , Asperen, Christi J. van , Devilee, Peter , HEBON, EMBRACE, Peock, Susan, Frost, Debra, Adlard, Julian, Paterson, Joan, Eason, Jacqueline, Godwin, Andrew K. , Lasset, Christine , Berthet, Pascaline, Caron, Olivier , Collaborators, GEMO Study, Buys, Saundra S. , Registry, The Breast Cancer Family, Singer, Christian F. , Dressler, Anne Catharina, Toland, Amanda Ewart , Isaacs, Claudine , Meindl, Alfons , Caldes, Trinidad, Chen, Xiaoqing, Beesley, Jonathan , Neuhausen, Susan L. , Couch, Fergus J. , Wang, Xianshu , Stoppa‐Lyonnet, Dominique , Mazoyer, Sylvie, Sinilnikova, Olga M., Dumont, Martine , Karlsson, Per, Borg, Åke, Soller, Maria , Jernström, Helena , Barbany, Gisela , Torres, Diana , Rashid, Muhammad Usman , Rookus, M.A., Asperen, C.J. van, Wijnen, Juul , Vreeswijk, Maaike P.G. , Devilee, P., Ligtenberg, M.J., Ausems, M.G., Luijt, Rob B. van der , Aalfs, C.M., Os, T.A. van, Gille, J.J.P., Easton, Douglas F., Cook, Margaret, Morrison, Patrick J. , Cole, Trevor, James, Margaret, Taylor, Amy , McCann, Emma, Kennedy, M. John, Snadden, Lesley, Izatt, Louise, Dorkins, Huw , Barwell, Julian, Adlard, Julian, Houghton, Catherine E. , Evans, D. Gareth, Lalloo, Fiona, Taylor, Jane Elizabeth , Berlin, Cheryl, Eeles, Ros, Houlston, Richard S. , Bancroft, Elizabeth, D'Mello, Lucia, Kohut, Kelly , Wiggins, Jennifer M. , Mitra, Anita , Cook, Jackie A , Quarrell, Oliver , Crawford, Gillian, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Bancroft, Elizabeth, D'Mello, Lucia, Sinilnikova, Olga, Sinilnikova, Olga, Giraud, Sophie, Stoppa-Lyonnet, Dominique, Moncoutier, Virginie, Pauw, Antoine de, Bressac-de-Paillerets, Brigitte, Remenieras, Audrey, Lasset, Christine, Bonadona, Valérie, Eisinger, François, Pujol, Pascal , Fournier, Joëlle , Vennin, Philippe, Delnatte, Capucine, Ejlertsen, Bent , Kjærgaard, Susanne, Senter, Leigha , Craven, Caroline M. , Pharoah, Paul D.P. , Harrington, Patricia , Blomqvist, Carl , Heikkinen, Tuomas , Hoya, Miguel de la , Nevanlinna, H , Caligo, Maria A , Peterlongo, Paolo , Spurdle, Amanda B , Eccles, Diana , Moysich, Kirsten , Radice, Paolo , Adlard, Julian , Arnold, Norbert , Eeles, Rosalind A , Ehrencrona, Hans , Evans, D Gareth , John, Esther M , Southey, Melissa C , Nathanson, Katherine L , Engel, Christoph , Montagna, Marco , Simard, Jacques , Chenevix-Trench, Georgia , Faivre, Laurence , Gómez-García, Encarna B , Hansen, Thomas van Overeem , Manoukian, Siranoush , Terry, Mary Beth , Lindblom, Annika , Ellis, Ian
Human Molecular Genetics | September 3, 2011 | Volume: 20 | Issue: 23 | Pages: 4732-4747
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
Antoniou, Antonis C. , Sinilnikova, Olga M., Soucy, Penny, McGuffog, Lesley, Healey, Sue, Peterlongo, Paolo , Manoukian, Siranoush , Peissel, Bernard , Zaffaroni, Daniela , Cattaneo, Elisa , Barile, Monica, Pensotti, Valeria , Pasini, Barbara , Dolcetti, Riccardo , Giannini, Giuseppe , Putignano, Anna Laura , Varesco, Liliana , Radice, Paolo , Mai, Phuong L., Greene, Mark H. , Andrulis, Irene L. , Glendon, Gord , Özçelik, Hilmi, Thomassen, Mads , Gerdes, Anne‐Marie , Kruse, Torben A., Jensen, Uffe Birk , Crüger, Dorthe Gylling, Caligo, Maria A. , Laitman, Yael , Milgrom, Roni, Friedman, Eitan , Loman, Niklas, Harbst, Katja , Lindblom, Annika , Arver, Brita, Ehrencrona, Hans , Melin, Beatrice , SWE-BRCA, Nathanson, Katherine L. , Rebbeck, Timothy R., Jakubowska, Anna , Lubiński, Jan , Huzarski, Tomasz , Byrski, Tomasz , Cybulski, Cezary, Górski, Bohdan , Osório, Ana , Hamann, Ute, Hogervorst, Frans B.L., Rookus, Matti A. , Hooning, Maartje J. , Nelen, Marcel , Luijt, Rob B. van der , Os, Theo A.M. van, Meijers‐Heijboer, Hanne , Gómez, E. , HEBON, Peock, Susan, Cook, Margaret , Frost, Debra, Platte, Radka, Leyland, Jean, Evans, D. Gareth , Lalloo, Fiona, Eeles, Rosalind A. , Izatt, Louise , Adlard, Julian , Davidson, Rosemarie, Eccles, Diana , Ong, Kai-Ren, Douglas, Fiona, Paterson, Joan, Miedzybrodzka, Zosia , EMBRACE, Buecher, Bruno , Belotti, Muriel, Tirapo, Carole, Mazoyer, Sylvie , Barjhoux, Laure, Lasset, Christine , Leroux, Dominique, Faivre, Laurence, Bronner, Myriam , Prieur, Fabienne, Noguès, Catherine , Rouleau, Étienne , Coupier, Isabelle, Frénay, Marc, Collaborators, CEMO Study, Daly, Mary B., Terry, Mary Beth , John, Esther M. , Yassin, Yosuf, Miron, Alexander, Goldgar, David E., Registry, Breast Cancer Family, Singer, Christian F., Tea, Muy‐Kheng, Pfeiler, Georg , Dressler, Anne Catharina, Hansen, Thomas van Overeem , Jønson, Lars, Ejlertsen, Bent , Barkardóttir, Rósa B. , Kirchhoff, Tomas , Offit, Kenneth, Piedmonte, Marion, Rodriguez, Gustavo C. , Small, Laurie, Boggess, John F., Blank, Stephanie V. , Basil, Jack, Montagna, Marco , Tognazzo, Silvia , Imyanitov, Evgeny , Janavičius, Ramūnas , Lázaro, Conxi , Blanco, Ignacio , Sucheston, Lara, Walsh, Christine , Oláh, Edith , Bozsik, Anikó , Teo, Soo‐Hwang , Seldon, Joyce, Beattie, Mary, Rensburg, Elizabeth J. van , Sluiter, Michelle D., Dı́ez, Orland , Schmutzler, Rita K., Wappenschmidt, Barbara , Engel, Christoph , Meindl, Alfons , Ruehl, I., Varon-Mateeva, Raymonda, Kast, Karin, Deißler, Helmut , Niederacher, Dieter , Arnold, Norbert , Gadzicki, Dorothea, Schönbuchner, Ines, Caldes, Trinidad, Hoya, Miguel de la , Nevanlinna, Heli , Aittomäki, Kristiina, Dumont, Martine , Chiquette, Jocelyne , Chen, Xiaoqing, Beesley, Jonathan, Spurdle, Amanda B. , investigators, kConFab, Ding, Yuan Chun , Fredericksen, Zachary, Simard, Jacques , Easton, Douglas F. , Chenevix‐Trench, Georgia , CIMBA, on behalf of, Sutter, Christian , Vasen, Hans F. A. , Durocher, Francine , Rahman, Nazneen , Karlsson, Per , Nordling, Margareta , Olsson, Håkan , Hoogerbrugge, Nicoline , Waisfisz, Quinten , Barton, David , Tobias, Edward S. , Jacobs, Chris , Ellis, Ian O. , Castro, Elena , Lucassen, Anneke , Gladieff, Laurence , Thorne, Heather , Stenmark‐Askmalm, Marie , Faivre, Laurence , Kartsonaki, Christiana , Lee, Andrew , Mai, Phuong L., Kaufman, Bella , Paluch–Shimon, Shani , SWE-BRCA, Domchek, Susan M. , Gronwald, Jacek , Cajal, Teresa Ramón y , Fostira, Florentia , Andrés, Raquel , Benı́tez, Javier , Asperen, Christi J. van , Devilee, Peter , HEBON, Cook, Jackie A , Kennedy, Michael John , EMBRACE, Godwin, Andrew K. , Stoppa‐Lyonnet, Dominique , Pujol, Pascal , Collaborators, CEMO Study, Hopper, John L. , Buys, Saundra S. , Registry, Breast Cancer Family, Singer, Christian F. , Azodi, Masoud , Toland, Amanda Ewart , Agata, Simona , Pharoah, Paul D.P. , Karlan, Beth Y. , Meindl, Alfons , Caldes, Trinidad, Tischkowitz, Marc D. , Chen, Xiaoqing, investigators, kConFab, Neuhausen, Susan L. , Wang, Xianshu , Pankratz, V. Shane , Couch, Fergus J. , CIMBA, on behalf of, Nevanlinna, H , Caligo, Maria A , Peterlongo, Paolo , Spurdle, Amanda B , Teo, Soo H , van Rensburg, Elizabeth J , Eccles, Diana , de la Hoya, Miguel , Diez, Orland , Radice, Paolo , Adlard, Julian , Arnold, Norbert , Eeles, Rosalind A , Ehrencrona, Hans , Evans, D Gareth , John, Esther M , van der Luijt, Rob B , Jakubowska, Anna , Nathanson, Katherine L , Bozsik, Aniko , Engel, Christoph , Lazaro, Conxi , Montagna, Marco , Simard, Jacques , Chenevix-Trench, Georgia , Huzarski, Tomasz , Faivre, Laurence , Gómez-García, Encarna B , Hansen, Thomas van Overeem , Pasini, Barbara , Manoukian, Siranoush , Lubinski, Jan , Terry, Mary Beth , Lindblom, Annika , Ellis, Ian
Human Molecular Genetics | May 19, 2011 | Volume: 20 | Issue: 16 | Pages: 3304-3321