Gutierrez‐Barrera, Angelica M.

Mayo Clinic

The University of Texas MD Anderson Cancer Center

Citations 2

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.

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Friebel, Tara M. , Friedman, Eitan , Hamann, Ute, Huo, Dezheng , Kwong, Ava , Oláh, Edith , Olopade, Olufunmilayo I., Solano, Ángela R. , Teo, Soo‐Hwang , Thomassen, Mads , Weitzel, Jeffrey N. , Chan, TL, Couch, Fergus J., Goldgar, David E., Kruse, Torben A., Palmero, Edenir Inêz , Park, Sue K. , Torres, Diana , Rensburg, Elizabeth J. van , McGuffog, Lesley, Aalfs, Cora M. , Abugattas, Julio E. , Aittomäki, Kristiina, Andrews, Lesley , Andrulis, Irene L., Arason, Aðalgeir , Arun, Banu, Asseryanis, Ella, Auerbach, Leo, Azzollini, Jacopo , Balmañà, Judith , Barile, Monica, Barkardóttir, Rósa B. , Barrowdale, Daniel , Benı́tez, Javier , Berger, Andreas, Berger, Raanan , Blanco, Amie , Blazer, Kathleen R. , Blok, Marinus J. , Bonadona, Valérie , Bradbury, Angela R. , Brewer, Carole, Buecher, Bruno , Caldés, Trinidad, Caliebe, Almuth , Caligo, Maria A. , Caputo, Sandrine M. , Chiquette, Jocelyne , Claes, Kathleen , Collée, J. Margriet, Davidson, Rosemarie, Hoya, Miguel de la , Leeneer, Kim De , Pauw, Antoine De , Delnatte, Capucine, Ding, Yuan Chun , Ditsch, Nina , Dorfling, Cecilia M., Dworniczak, Bernd , Eason, Jacqueline , Easton, Douglas F. , Eeles, Rosalind A. , Ehrencrona, Hans , Ejlertsen, Bent , EMBRACE, Engel, Christoph , Engert, Stefanie, Evans, D. Gareth , Faivre, Laurence, Feliubadaló, Lídia , Ferrer, Sandra Fert, Foretová, Lenka , Fowler, Jeffrey M., Frost, Debra, Galvão, Henrique C.R. , Ganz, Patricia A. , Gauthier‐Villars, Marion , Gehrig, Andrea, Collaborators, GEMO Study, Gerdes, Anne‐Marie , Gesta, Paul , Giannini, Giuseppe , Giraud, Sophie , Glendon, Gord , Godwin, Andrew K., Greene, Mark H. , Gutierrez‐Barrera, Angelica M. , Hahnen, Eric , Hauke, Jan , HEBON, Henderson, Alex, Hogervorst, Frans B. L., Honisch, Ellen, Imyanitov, Evgeny N., Izatt, Louise , Izquierdo, Á. , Jakubowska, Anna , James, Paul A. , Janavičius, Ramūnas , Jensen, Uffe Birk , Vijai, Joseph , Kaczmarek, Katarzyna, Karlan, Beth Y., Kast, Karin, Investigators, kConFab, Kim, Sung-Won, Konstantopoulou, Irene , Korach, Jacob, Laitman, Yael , Lasset, Christine, Lázaro, Conxi , Lee, Annette, Lee, Min Hyuk , Lester, Jenny, Lesueur, Fabienne , Liljegren, Annelie, Lindor, Noralane M. , Longy, Michel, Loud, Jennifer T. , Lu, Karen H. , Lubiński, Jan , Macháčková, Eva , Manoukian, Siranoush , Mari, Véronique , Martínez-Bouzas, Cristina, Mátrai, Zoltán , Mebirouk, Noura, Meijers‐Heijboer, Hanne , Meindl, Alfons , Mensenkamp, Arjen R. , Mickys, Ugnius, Montagna, Marco , Moysich, Kirsten B., Mulligan, Anna Marie , Musinsky, Jacob, Ngeow, Joanne , Niederacher, Dieter , Nielsen, Henriette Roed, Nielsen, Finn C., Offit, Kenneth, Öfverholm, Anna , Ong, Kai‐Ren , Osório, Ana , Papp, J., Pasini, Barbara , Pedersen, Inge Søkilde , Peixoto, Ana , Peruga, Nina, Peterlongo, Paolo , Pohl, Esther, Pradhan, Nisha , Prajzendanc, Karolina , Prieur, Fabienne, Radice, Paolo , Ramus, Susan J. , Rantala, Johanna, Rashid, Muhammad Usman , Rhiem, Kerstin, Rodriguez, Gustavo C. , Rogers, Mark T., Rudaitis, Vilius , Schmidt, Ane Yde , Schmutzler, Rita K., Senter, Leigha , Shah, Payal D. , Side, Lucy, Simard, Jacques , Skytte, Anne‐Bine , Slavin, Thomas P. , Snape, Katie , Sobol, Hagay, Southey, Melissa C. , Sukiennicki, Grzegorz, Sutter, Christian , Tan, Yen Y. , Teixeira, Manuel R. , Terry, Mary Beth , Teulé, Àlex , Thomas, Abigail, Thull, Darcy L. , Tognazzo, Silvia , Toland, Amanda Ewart, Topka, Sabine , Trainer, Alison H. , Hout, Annemieke H. van der, Kolk, Lizet E. van der, Luijt, Rob B. van der , Heetvelde, Mattias Van , Varesco, Liliana, Varon‐Mateeva, Raymonda, Vega, Ana , Villarreal‐Garza, Cynthia , Wachenfeldt, Anna von , Walker, Lisa, Wang‐Gohrke, Shan , Wappenschmidt, Barbara, Yoon, Sook-Yee, Zanzottera, Cristina, Zidan, Jamal, Zorn, Kristin K. , Selkirk, Christina G. , Hulick, Peter J. , Chenevix‐Trench, Georgia , Antoniou, Antonis C. , Nathanson, Katherine L. , Durocher, Francine , Olopade, Olufunmilayo I. , Faivre, Laurence , Białkowska, Katarzyna , Caligo, Maria A , Hulick, Peter J , James, Paul , Lesueur, Fabienne , Peterlongo, Paolo , Ramus, Susan J , Teixeira, Manuel R , Teo, Soo H , van Rensburg, Elizabeth J , Moysich, Kirsten , Vega, Ana , de la Hoya, Miguel , Radice, Paolo , Weitzel, Jeffrey N , Claes, Kathleen B M , Azzollini, Jacopo , Eeles, Rosalind A , Ehrencrona, Hans , Evans, D Gareth , Joseph, Vijai , Konstantopoulou, Irene , Olopade, Olufunmilayo I , Southey, Melissa C , van der Luijt, Rob B , Jakubowska, Anna , Palmero, Edenir I , Torres, Diana , Nathanson, Katherine L , Arason, Adalgeir , Barrowdale, Daniel , Benitez, Javier , Engel, Christoph , Izquierdo, Angel , Lazaro, Conxi , Montagna, Marco , Simard, Jacques , Chenevix-Trench, Georgia , Senter, Leigha , Topka, Sabine , Rebbeck, Timothy R. , Couch, Fergus J. , Parsons, Michael T. , Leslie, Goska , Adlard, Julian , Agata, Simona , Arnold, Norbert , Bonanni, Bernardo , Buys, Saundra S. , Campbell, Ian , Chung, Wendy K. , Cook, Jackie A , Dı́ez, Orland , Domchek, Susan M. , Velázquez, Carolina , EMBRACE, Garber, Judy E. , Collaborators, GEMO Study, Gronwald, Jacek , HEBON, Hentschel, Julia , Hogervorst, Frans B.L., Isaacs, Claudine , John, Esther M. , Karlan, Beth Y. , Lasa, Adriana , Lasset, Christine , Liljegren, Annelie , Meindl, Alfons , Miller, Austin , Moysich, Kirsten B. , Neuhausen, Susan L. , Nevanlinna, Heli , Nguyen, Huu Phuc , Nussbaum, Robert L. , Papi, Laura , Pujol, Pascal , Rhiem, Kerstin , Robson, Mark E. , Sharma, Priyanka , Singer, Christian F. , Sobol, Hagay , Steele, Linda Roslyn , Steinemann, Doris , Szabo, Csilla I. , Tischkowitz, Marc D. , Toland, Amanda Ewart , Tung, Nadine , Asperen, Christi J. van , Varesco, Liliana , Varon-Mateeva, Raymonda, Wappenschmidt, Barbara , Weber, Bernhard H. F. , Yannoukakos, Drakoulis , Spurdle, Amanda B. , Faivre, Laurence , Rashid, Muhammad U , De Leeneer, Kim , Feliubadaló, Lidia , Hauke, Jan , Pasini, Barbara , Ngeow, Joanne , Manoukian, Siranoush , Lubinski, Jan , Terry, Mary Beth , Villarreal-Garza, Cynthia , Balmaña, Judith , Kwong, Ava

Human Mutation | February 15, 2018 | Volume: 39 | Issue: 5 | Pages: 593-620

10.1002/humu.23406