Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Patel, Vivek L.; Busch, Evan L.; Friebel, Tara M.; Cronin, Angel; Leslie, Goska; McGuffog, Lesley; Adlard, Julian; Agata, Simona; Agnarsson, Bjarni A.; Ahmed, Munaza; Aittomaki, Kristiina; Alducci, Elisa; Andrulis, Irene L.; Arason, Adalgeir; Arnold, Norbert; Artioli, Grazia; Arver, Brita; Auber, Bernd; Azzollini, Jacopo; Balmana, Judith; Barkardottir, Rosa B.; Barnes, Daniel R.; Barroso, Alicia; Barrowdale, Daniel; Belotti, Muriel; Benitez, Javier; Bertelsen, Brigitte; Blok, Marinus J.; Bodrogi, Istvan; Bonadona, Valerie; Bonanni, Bernardo; Bondavalli, Davide; Boonen, Susanne E.; Borde, Julika; Borg, Ake; Bradbury, Angela R.; Brady, Angela; Brewer, Carole; Brunet, Joan; Buecher, Bruno; Buys, Saundra S.; Cabezas-Camarero, Santiago; Caldes, Trinidad; Caliebe, Almuth; Caligo, Maria A.; Calvello, Mariarosaria; Campbell, Ian G.; Carnevali, Ileana; Carrasco, Estela; Chan, Tsun L.; Chu, Annie T. W.; Chung, Wendy K.; Claes, Kathleen B. M.; Cook, Jackie; Cortesi, Laura; Couch, Fergus J.; Daly, Mary B.; Damante, Giuseppe; Darder, Esther; Davidson, Rosemarie; de la Hoya, Miguel; Della Puppa, Lara; Dennis, Joe; Diez, Orland; Ding, Yuan Chun; Ditsch, Nina; Domchek, Susan M.; 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; Feliubadalo, Lidia; Foretova, Lenka; Fostira, Florentia; Fountzilas, George; Frost, Debra; Garcia-Barberan, Vanesa; Garre, Pilar; Gauthier-Villars, Marion; Geczi, Lajos; Gehrig, Andrea; Gerdes, Anne-Marie; Gesta, Paul; Giannini, Giuseppe; Glendon, Gord; Godwin, Andrew K.; Goldgar, David E.; Greene, Mark H.; Gutierrez-Barrera, Angelica M.; Hahnen, Eric; Hamann, Ute; Hauke, Jan; Herold, Natalie; Hogervorst, Frans B. L.; Honisch, Ellen; Hopper, John L.; Hulick, Peter J.; Izatt, Louise; Jager, Agnes; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; Jensen, Thomas Dyrso; Johannsson, Oskar Th; John, Esther M.; Joseph, Vijai; Kang, Eunyoung; Kast, Karin; Kiiski, Johanna, I; Kim, Sung-Won; Kim, Zisun; Ko, Kwang-Pil; Konstantopoulou, Irene; Kramer, Gero; Krogh, Lotte; Kruse, Torben A.; Kwong, Ava; Larsen, Mirjam; Lasset, Christine; Lautrup, Charlotte; Lazaro, Conxi; Lee, Jihyoun; Lee, Jong Won; Lee, Min Hyuk; Lemke, Johannes; Lesueur, Fabienne; Liljegren, Annelie; Lindblom, Annika; Llovet, Patricia; Lopez-Fernandez, Adria; Lopez-Perolio, Irene; Lorca, Victor; Loud, Jennifer T.; Ma, Edmond S. K.; Mai, Phuong L.; Manoukian, Siranoush; Mari, Veronique; Martin, Lynn; Matricardi, Laura; Mebirouk, Noura; Medici, Veronica; Meijers-Heijboer, Hanne E. J.; Meindl, Alfons; Mensenkamp, Arjen R.; Miller, Clare; Gomes, Denise Molina; Montagna, Marco; Mooij, Thea M.; Moserle, Lidia; Mouret-Fourme, Emmanuelle; Mulligan, Anna Marie; Nathanson, Katherine L.; Navratilova, Marie; Nevanlinna, Heli; Niederacher, Dieter; Nielsen, Finn C. Cilius; Nikitina-Zake, Liene; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo, I; Ong, Kai-Ren; Osorio, Ana; Ott, Claus-Eric; Palli, Domenico; Park, Sue K.; Parsons, Michael T.; Pedersen, Inge Sokilde; Peissel, Bernard; Peixoto, Ana; Perez-Segura, Pedro; Peterlongo, Paolo; Petersen, Annabeth Hogh; Porteous, Mary E.; Angel Pujana, Miguel; Radice, Paolo; Ramser, Juliane; Rantala, Johanna; Rashid, Muhammad U.; Rhiem, Kerstin; Rizzolo, Piera; Robson, Mark E.; Rookus, Matti A.; Rossing, Caroline M.; Ruddy, Kathryn J.; Santos, Catarina; Saule, Claire; Scarpitta, Rosa; Schmutzler, Rita K.; Schuster, Helene; Senter, Leigha; Seynaeve, Caroline M.; Shah, Payal D.; Sharma, Priyanka; Shin, Vivian Y.; Silvestri, Valentina; Simard, Jacques; Singer, Christian F.; Skytte, Anne-Bine; Snape, Katie; Solano, Angela R.; Soucy, Penny; Southey, Melissa C.; Spurdle, Amanda B.; Steele, Linda; Steinemann, Doris; Stoppa-Lyonnet, Dominique; Stradella, Agostina; Sunde, Lone; Sutter, Christian; Tan, Yen Y.; Teixeira, Manuel R.; Teo, Soo Hwang; Thomassen, Mads; Tibiletti, Maria Grazia; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda E.; Tommasi, Stefania; Torres, Diana; Toss, Angela; Trainer, Alison H.; Tung, Nadine; van Asperen, Christi J.; van der Baan, Frederieke H.; van der Kolk, Lizet E.; van der Luijt, Rob B.; van Hest, Liselotte P.; Varesco, Liliana; Varon-Mateeva, Raymonda; Viel, Alessandra; Vierstrate, Jeroen; Villa, Roberta; von Wachenfeldt, Anna; Wagner, Philipp; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weitzel, Jeffrey N.; Wieme, Greet; Yadav, Siddhartha; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Zanzottera, Cristina; Zorn, Kristin K.; D'Amico, Anthony, V; Freedman, Matthew L.; Pomerantz, Mark M.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Neuhausen, Susan L.; Ottini, Laura; Nielsen, Henriette Roed; Rebbeck, Timothy R.

doi:10.1158/0008-5472.CAN-19-1840

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Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Patel, Vivek L.;
Busch, Evan L.;
Friebel, Tara M.;
Cronin, Angel;
Leslie, Goska;
외 254명

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47

초록

Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. Weevaluated whether PSVs inBRCA1/2 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 30 region of BRCA2 (c.7914+) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001c.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.

키워드

MESSENGER-RNA DECAY; BREAST-CANCER; GERMLINE MUTATIONS; GENE; OVARIAN; PHENOTYPE; INCREASE; CARRIERS; APC; IDENTIFICATION

제목: Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

저자: Patel, Vivek L.; Busch, Evan L.; Friebel, Tara M.; Cronin, Angel; Leslie, Goska; McGuffog, Lesley; Adlard, Julian; Agata, Simona; Agnarsson, Bjarni A.; Ahmed, Munaza; Aittomaki, Kristiina; Alducci, Elisa; Andrulis, Irene L.; Arason, Adalgeir; Arnold, Norbert; Artioli, Grazia; Arver, Brita; Auber, Bernd; Azzollini, Jacopo; Balmana, Judith; Barkardottir, Rosa B.; Barnes, Daniel R.; Barroso, Alicia; Barrowdale, Daniel; Belotti, Muriel; Benitez, Javier; Bertelsen, Brigitte; Blok, Marinus J.; Bodrogi, Istvan; Bonadona, Valerie; Bonanni, Bernardo; Bondavalli, Davide; Boonen, Susanne E.; Borde, Julika; Borg, Ake; Bradbury, Angela R.; Brady, Angela; Brewer, Carole; Brunet, Joan; Buecher, Bruno; Buys, Saundra S.; Cabezas-Camarero, Santiago; Caldes, Trinidad; Caliebe, Almuth; Caligo, Maria A.; Calvello, Mariarosaria; Campbell, Ian G.; Carnevali, Ileana; Carrasco, Estela; Chan, Tsun L.; Chu, Annie T. W.; Chung, Wendy K.; Claes, Kathleen B. M.; Cook, Jackie; Cortesi, Laura; Couch, Fergus J.; Daly, Mary B.; Damante, Giuseppe; Darder, Esther; Davidson, Rosemarie; de la Hoya, Miguel; Della Puppa, Lara; Dennis, Joe; Diez, Orland; Ding, Yuan Chun; Ditsch, Nina; Domchek, Susan M.; 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; Feliubadalo, Lidia; Foretova, Lenka; Fostira, Florentia; Fountzilas, George; Frost, Debra; Garcia-Barberan, Vanesa; Garre, Pilar; Gauthier-Villars, Marion; Geczi, Lajos; Gehrig, Andrea; Gerdes, Anne-Marie; Gesta, Paul; Giannini, Giuseppe; Glendon, Gord; Godwin, Andrew K.; Goldgar, David E.; Greene, Mark H.; Gutierrez-Barrera, Angelica M.; Hahnen, Eric; Hamann, Ute; Hauke, Jan; Herold, Natalie; Hogervorst, Frans B. L.; Honisch, Ellen; Hopper, John L.; Hulick, Peter J.; Izatt, Louise; Jager, Agnes; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; Jensen, Thomas Dyrso; Johannsson, Oskar Th; John, Esther M.; Joseph, Vijai; Kang, Eunyoung; Kast, Karin; Kiiski, Johanna, I; Kim, Sung-Won; Kim, Zisun; Ko, Kwang-Pil; Konstantopoulou, Irene; Kramer, Gero; Krogh, Lotte; Kruse, Torben A.; Kwong, Ava; Larsen, Mirjam; Lasset, Christine; Lautrup, Charlotte; Lazaro, Conxi; Lee, Jihyoun; Lee, Jong Won; Lee, Min Hyuk; Lemke, Johannes; Lesueur, Fabienne; Liljegren, Annelie; Lindblom, Annika; Llovet, Patricia; Lopez-Fernandez, Adria; Lopez-Perolio, Irene; Lorca, Victor; Loud, Jennifer T.; Ma, Edmond S. K.; Mai, Phuong L.; Manoukian, Siranoush; Mari, Veronique; Martin, Lynn; Matricardi, Laura; Mebirouk, Noura; Medici, Veronica; Meijers-Heijboer, Hanne E. J.; Meindl, Alfons; Mensenkamp, Arjen R.; Miller, Clare; Gomes, Denise Molina; Montagna, Marco; Mooij, Thea M.; Moserle, Lidia; Mouret-Fourme, Emmanuelle; Mulligan, Anna Marie; Nathanson, Katherine L.; Navratilova, Marie; Nevanlinna, Heli; Niederacher, Dieter; Nielsen, Finn C. Cilius; Nikitina-Zake, Liene; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo, I; Ong, Kai-Ren; Osorio, Ana; Ott, Claus-Eric; Palli, Domenico; Park, Sue K.; Parsons, Michael T.; Pedersen, Inge Sokilde; Peissel, Bernard; Peixoto, Ana; Perez-Segura, Pedro; Peterlongo, Paolo; Petersen, Annabeth Hogh; Porteous, Mary E.; Angel Pujana, Miguel; Radice, Paolo; Ramser, Juliane; Rantala, Johanna; Rashid, Muhammad U.; Rhiem, Kerstin; Rizzolo, Piera; Robson, Mark E.; Rookus, Matti A.; Rossing, Caroline M.; Ruddy, Kathryn J.; Santos, Catarina; Saule, Claire; Scarpitta, Rosa; Schmutzler, Rita K.; Schuster, Helene; Senter, Leigha; Seynaeve, Caroline M.; Shah, Payal D.; Sharma, Priyanka; Shin, Vivian Y.; Silvestri, Valentina; Simard, Jacques; Singer, Christian F.; Skytte, Anne-Bine; Snape, Katie; Solano, Angela R.; Soucy, Penny; Southey, Melissa C.; Spurdle, Amanda B.; Steele, Linda; Steinemann, Doris; Stoppa-Lyonnet, Dominique; Stradella, Agostina; Sunde, Lone; Sutter, Christian; Tan, Yen Y.; Teixeira, Manuel R.; Teo, Soo Hwang; Thomassen, Mads; Tibiletti, Maria Grazia; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda E.; Tommasi, Stefania; Torres, Diana; Toss, Angela; Trainer, Alison H.; Tung, Nadine; van Asperen, Christi J.; van der Baan, Frederieke H.; van der Kolk, Lizet E.; van der Luijt, Rob B.; van Hest, Liselotte P.; Varesco, Liliana; Varon-Mateeva, Raymonda; Viel, Alessandra; Vierstrate, Jeroen; Villa, Roberta; von Wachenfeldt, Anna; Wagner, Philipp; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weitzel, Jeffrey N.; Wieme, Greet; Yadav, Siddhartha; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Zanzottera, Cristina; Zorn, Kristin K.; D'Amico, Anthony, V; Freedman, Matthew L.; Pomerantz, Mark M.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Neuhausen, Susan L.; Ottini, Laura; Nielsen, Henriette Roed; Rebbeck, Timothy R.

DOI: 10.1158/0008-5472.CAN-19-1840

발행일: 2020-02-01

유형: Article

저널명: Cancer Research

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