Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness

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

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

Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness

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

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

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 8þ) 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.7914þ) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001c.7913 [HR ¼ 1.78; 95% confidence interval (CI), 1.25–2.52; P ¼ 0.001], as well as elevated risk of Gleason 8þ prostate cancer (HR ¼ 3.11; 95% CI, 1.63–5.95; P ¼ 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR ¼ 2.83; 95% CI, 1.71–4.68; P ¼ 0.00004) and elevated risk of Gleason 8þ prostate cancer (HR ¼ 4.95; 95% CI, 2.12–11.54; P ¼ 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.

Original language	English (US)
Pages (from-to)	624-638
Number of pages	15
Journal	Cancer research
Volume	80
Issue number	3
DOIs	https://doi.org/10.1158/0008-5472.CAN-19-1840
State	Published - Feb 1 2020

ASJC Scopus subject areas

Oncology
Cancer Research

Access to Document

10.1158/0008-5472.CAN-19-1840

Cite this

Patel, V. L., Busch, E. L., Friebel, T. M., Cronin, A., Leslie, G., McGuffog, L., Adlard, J., Agata, S., Agnarsson, B. A., Ahmed, M., Aittom, K., Alducci, E., Andrulis, I. L., Arason, A., Arnold, N., Artioli, G., Arver, B., Auber, B., Azzollini, J., ... Rebbeck, T. R. (2020). Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness. Cancer research, 80(3), 624-638. https://doi.org/10.1158/0008-5472.CAN-19-1840

Patel, VL, Busch, EL, Friebel, TM, Cronin, A, Leslie, G, McGuffog, L, Adlard, J, Agata, S, Agnarsson, BA, Ahmed, M, Aittom, K, Alducci, E, Andrulis, IL, Arason, A, Arnold, N, Artioli, G, Arver, B, Auber, B, Azzollini, J, Balmaña, J, Barkardottir, RB, Barnes, DR, Barroso, A, Barrowdale, D, Belotti, M, Benitez, J, Bertelsen, B, Blok, MJ, Bodrogi, I, Bonadona, V, Bonanni, B, Bondavalli, D, Boonen, SE, Borde, J, Borg, A, Bradbury, AR, Brady, A, Brewer, C, Brunet, J, Buecher, B, Buys, SS, Cabezas-Camarero, S, Caldes, T, Caliebe, A, Caligo, MA, Calvello, M, Campbell, IG, Carnevali, I, Carrasco, E, Chan, TL, Chu, ATW, Chung, WK, Claes, KBM, Cook, J, Cortesi, L, Couch, FJ, Daly, MB, Damante, G, Darder, E, Davidson, R, De La Hoya, M, Della Puppa, L, Dennis, J, Díez, O, Ding, YC, Ditsch, N, Domchek, SM, Donaldson, A, Dworniczak, B, Easton, DF, Eccles, DM, Eeles, RA, Ehrencrona, H, Ejlertsen, B, Engel, C, Evans, DG, Faivre, L, Faust, U, Feliubadalo, L, Foretova, L, Fostira, F, Fountzilas, G, Frost, D, García-Barberan, V, Garre, P, Gauthier-Villars, M, Geczi, L, Gehrig, A, Gerdes, AM, Gesta, P, Giannini, G, Glendon, G, Godwin, AK, Goldgar, DE, Greene, MH, Gutierrez-Barrera, AM, Hahnen, E, Hamann, U, Hauke, J, Herold, N, Hogervorst, FBL, Honisch, E, Hopper, JL, Hulick, PJ, Izatt, L, Jager, A, James, P, Janavicius, R, Jensen, UB, Jensen, TD, Johannsson, OT, John, EM, Joseph, V, Kang, E, Kast, K, Kiiski, JI, Kim, SW, Kim, Z, Ko, KP, Konstantopoulou, I, Kramer, G, Krogh, L, Kruse, TA, Kwong, A, Larsen, M, Lasset, C, Lautrup, C, Lazaro, C, Lee, J, Lee, JW, Lee, MH, Lemke, J, Lesueur, F, Liljegren, A, Lindblom, A, Llovet, P, Lopez-Fernandez, A, Lopez-Perolio, I, Lorca, V, Loud, JT, Ma, ESK, Mai, PL, Manoukian, S, Mari, V, Martin, L, Matricardi, L, Mebirouk, N, Medici, V, Meijers-Heijboer, HEJ, Meindl, A, Mensenkamp, AR, Miller, C, Gomes, DM, Montagna, M, Mooij, TM, Moserle, L, Mouret-Fourme, E, Mulligan, AM, Nathanson, KL, Navratilova, M, Nevanlinna, H, Niederacher, D, Cilius Nielsen, FC, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, OI, Ong, KR, Osorio, A, Ott, CE, Palli, D, Park, SK, Parsons, MT, Pedersen, IS, Peissel, B, Peixoto, A, Perez-Segura, P, Peterlongo, P, Petersen, AH, Porteous, ME, Pujana, MA, Radice, P, Ramser, J, Rantala, J, Rashid, MU, Rhiem, K, Rizzolo, P, Robson, ME, Rookus, MA, Rossing, CM, Ruddy, KJ, Santos, C, Saule, C, Scarpitta, R, Schmutzler, RK, Schuster, H, Senter, L, Seynaeve, CM, Shah, PD, Sharma, P, Shin, VY, Silvestri, V, Simard, J, Singer, CF, Skytte, AB, Snape, K, Solano, AR, Soucy, P, Southey, MC, Spurdle, AB, Steele, L, Steinemann, D, Stoppa-Lyonnet, D, Stradella, A, Sunde, L, Sutter, C, Tan, YY, Teixeira, MR, Teo, SH, Thomassen, M, Tibiletti, MG, Tischkowitz, M, Tognazzo, S, Toland, AE, Tommasi, S, Torres, D, Toss, A, Trainer, AH, Tung, N, Van Asperen, CJ, Van Der Baan, FH, Van Der Kolk, LE, Van Der Luijt, RB, Van Hest, LP, Varesco, L, Varon-Mateeva, R, Viel, A, Vierstrate, J, Villa, R, Von Wachenfeldt, A, Wagner, P, Wang-Gohrke, S, Wappenschmidt, B, Weitzel, JN, Wieme, G, Yadav, S, Yannoukakos, D, Yoon, SY, Zanzottera, C, Zorn, KK, D’Amico, AV, Freedman, ML, Pomerantz, MM, Chenevix-Trench, G, Antoniou, AC, Neuhausen, SL, Ottini, L, Nielsen, HR & Rebbeck, TR 2020, 'Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness', Cancer research, vol. 80, no. 3, pp. 624-638. https://doi.org/10.1158/0008-5472.CAN-19-1840

@article{465f88d55dbe47adb5a68bdc9f810c43,

title = "Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness",

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{\th}) 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{\th}) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001c.7913 [HR ¼ 1.78; 95% confidence interval (CI), 1.25–2.52; P ¼ 0.001], as well as elevated risk of Gleason 8{\th} prostate cancer (HR ¼ 3.11; 95% CI, 1.63–5.95; P ¼ 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR ¼ 2.83; 95% CI, 1.71–4.68; P ¼ 0.00004) and elevated risk of Gleason 8{\th} prostate cancer (HR ¼ 4.95; 95% CI, 2.12–11.54; P ¼ 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.",

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

note = "Publisher Copyright: {\textcopyright} 2020 American Association for Cancer Research.",

year = "2020",

month = feb,

day = "1",

doi = "10.1158/0008-5472.CAN-19-1840",

language = "English (US)",

volume = "80",

pages = "624--638",

journal = "Cancer research",

issn = "0008-5472",

publisher = "American Association for Cancer Research Inc.",

number = "3",

}

TY - JOUR

T1 - Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness

AU - Patel, Vivek L.

AU - Busch, Evan L.

AU - Friebel, Tara M.

AU - Cronin, Angel

AU - Leslie, Goska

AU - McGuffog, Lesley

AU - Adlard, Julian

AU - Agata, Simona

AU - Agnarsson, Bjarni A.

AU - Ahmed, Munaza

AU - Aittom, Kristiina

AU - Alducci, Elisa

AU - Andrulis, Irene L.

AU - Arason, Adalgeir

AU - Arnold, Norbert

AU - Artioli, Grazia

AU - Arver, Brita

AU - Auber, Bernd

AU - Azzollini, Jacopo

AU - Balmaña, Judith

AU - Barkardottir, Rosa B.

AU - Barnes, Daniel R.

AU - Barroso, Alicia

AU - Barrowdale, Daniel

AU - Belotti, Muriel

AU - Benitez, Javier

AU - Bertelsen, Brigitte

AU - Blok, Marinus J.

AU - Bodrogi, Istvan

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PY - 2020/2/1

Y1 - 2020/2/1

N2 - 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 8þ) 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.7914þ) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001c.7913 [HR ¼ 1.78; 95% confidence interval (CI), 1.25–2.52; P ¼ 0.001], as well as elevated risk of Gleason 8þ prostate cancer (HR ¼ 3.11; 95% CI, 1.63–5.95; P ¼ 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR ¼ 2.83; 95% CI, 1.71–4.68; P ¼ 0.00004) and elevated risk of Gleason 8þ prostate cancer (HR ¼ 4.95; 95% CI, 2.12–11.54; P ¼ 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.

AB - 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 8þ) 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.7914þ) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001c.7913 [HR ¼ 1.78; 95% confidence interval (CI), 1.25–2.52; P ¼ 0.001], as well as elevated risk of Gleason 8þ prostate cancer (HR ¼ 3.11; 95% CI, 1.63–5.95; P ¼ 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR ¼ 2.83; 95% CI, 1.71–4.68; P ¼ 0.00004) and elevated risk of Gleason 8þ prostate cancer (HR ¼ 4.95; 95% CI, 2.12–11.54; P ¼ 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.

UR - http://www.scopus.com/inward/record.url?scp=85079022145&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85079022145&partnerID=8YFLogxK

U2 - 10.1158/0008-5472.CAN-19-1840

DO - 10.1158/0008-5472.CAN-19-1840

M3 - Article

C2 - 31723001

AN - SCOPUS:85079022145

SN - 0008-5472

VL - 80

SP - 624

EP - 638

JO - Cancer research

JF - Cancer research

IS - 3

ER -

Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness

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