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Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
Cancer Research ( IF 12.5 ) Pub Date : 2019-11-13 , DOI: 10.1158/0008-5472.can-19-1840 Vivek L Patel 1 , Evan L Busch 2, 3 , Tara M Friebel 2, 4 , Angel Cronin 4 , Goska Leslie 5 , Lesley McGuffog 5 , Julian Adlard 6 , Simona Agata 7 , Bjarni A Agnarsson 8, 9 , Munaza Ahmed 10 , Kristiina Aittomäki 11 , Elisa Alducci 7 , Irene L Andrulis 12, 13 , Adalgeir Arason 8, 14 , Norbert Arnold 15 , Grazia Artioli 16 , Brita Arver 17 , Bernd Auber 18 , Jacopo Azzollini 19 , Judith Balmaña 20 , Rosa B Barkardottir 8, 14 , Daniel R Barnes 5 , Alicia Barroso 21 , Daniel Barrowdale 5 , Muriel Belotti 22 , Javier Benitez 23, 24 , Birgitte Bertelsen 25 , Marinus J Blok 26 , Istvan Bodrogi 27 , Valérie Bonadona 28 , Bernardo Bonanni 29 , Davide Bondavalli 29 , Susanne E Boonen 30 , Julika Borde 31, 32, 33 , Ake Borg 34 , Angela R Bradbury 35 , Angela Brady 36 , Carole Brewer 37 , Joan Brunet 38 , Bruno Buecher 22 , Saundra S Buys 39 , Santiago Cabezas-Camarero 40 , Trinidad Caldés 41 , Almuth Caliebe 42 , Maria A Caligo 43 , Mariarosaria Calvello 29 , Ian G Campbell 44, 45 , Ileana Carnevali 46 , Estela Carrasco 20 , Tsun L Chan 47, 48 , Annie T W Chu 47 , Wendy K Chung 49 , Kathleen B M Claes 50 , Gemo Study Collaborators 22 , Embrace Collaborators 5 , Jackie Cook 51 , Laura Cortesi 52 , Fergus J Couch 53 , Mary B Daly 54 , Giuseppe Damante 55 , Esther Darder 38 , Rosemarie Davidson 56 , Miguel de la Hoya 41 , Lara Della Puppa 57 , Joe Dennis 5 , Orland Díez 58 , Yuan Chun Ding 59 , Nina Ditsch 60 , Susan M Domchek 35 , Alan Donaldson 61 , Bernd Dworniczak 62 , Douglas F Easton 5, 63 , Diana M Eccles 64 , Rosalind A Eeles 65 , Hans Ehrencrona 66 , Bent Ejlertsen 67 , Christoph Engel 68, 69 , D Gareth Evans 70, 71 , Laurence Faivre 72 , Ulrike Faust 73 , Lídia Feliubadaló 74 , Lenka Foretova 75 , Florentia Fostira 76 , George Fountzilas 77 , Debra Frost 5 , Vanesa García-Barberán 41 , Pilar Garre 41 , Marion Gauthier-Villars 22 , Lajos Géczi 27 , Andrea Gehrig 78 , Anne-Marie Gerdes 79 , Paul Gesta 80 , Giuseppe Giannini 81 , Gord Glendon 12 , Andrew K Godwin 82 , David E Goldgar 83 , Mark H Greene 84 , Angelica M Gutierrez-Barrera 85 , Eric Hahnen 32, 33 , Ute Hamann 86 , Jan Hauke 31, 32, 33 , Natalie Herold 31, 32, 33 , Frans B L Hogervorst 87 , Ellen Honisch 88 , John L Hopper 89 , Peter J Hulick 90, 91 , KConFab Investigators 44, 45 , Hebon Investigators 92 , Louise Izatt 93 , Agnes Jager 94 , Paul James 45, 95 , Ramunas Janavicius 96 , Uffe Birk Jensen 97 , Thomas Dyrso Jensen 98 , Oskar Th Johannsson 99 , Esther M John 100 , Vijai Joseph 101 , Eunyoung Kang 102 , Karin Kast 103 , Johanna I Kiiski 104 , Sung-Won Kim 105 , Zisun Kim 106 , Kwang-Pil Ko 107 , Irene Konstantopoulou 76 , Gero Kramer 108 , Lotte Krogh 109 , Torben A Kruse 109 , Ava Kwong 47, 110, 111 , Mirjam Larsen 31, 32, 33 , Christine Lasset 28 , Charlotte Lautrup 112 , Conxi Lazaro 74 , Jihyoun Lee 113 , Jong Won Lee 114 , Min Hyuk Lee 113 , Johannes Lemke 115 , Fabienne Lesueur 22, 116, 117, 118 , Annelie Liljegren 17 , Annika Lindblom 119, 120 , Patricia Llovet 41 , Adria Lopez-Fernández 20 , Irene Lopez-Perolio 41 , Victor Lorca 41 , Jennifer T Loud 84 , Edmond S K Ma 47, 48 , Phuong L Mai 121 , Siranoush Manoukian 19 , Veronique Mari 122 , Lynn Martin 123 , Laura Matricardi 7 , Noura Mebirouk 22, 116, 117, 118 , Veronica Medici 52 , Hanne E J Meijers-Heijboer 124 , Alfons Meindl 60 , Arjen R Mensenkamp 125 , Clare Miller 126 , Denise Molina Gomes 127 , Marco Montagna 7 , Thea M Mooij 128 , Lidia Moserle 7 , Emmanuelle Mouret-Fourme 22 , Anna Marie Mulligan 129, 130 , Katherine L Nathanson 35 , Marie Navratilova 75 , Heli Nevanlinna 104 , Dieter Niederacher 89 , Finn C Cilius Nielsen 25 , Liene Nikitina-Zake 131 , Kenneth Offit 102, 132 , Edith Olah 133 , Olufunmilayo I Olopade 134 , Kai-Ren Ong 135 , Ana Osorio 23, 24 , Claus-Eric Ott 136 , Domenico Palli 137 , Sue K Park 138, 139, 140 , Michael T Parsons 141 , Inge Sokilde Pedersen 142 , Bernard Peissel 19 , Ana Peixoto 143 , Pedro Pérez-Segura 40 , Paolo Peterlongo 144 , Annabeth Høgh Petersen 98 , Mary E Porteous 145 , Miguel Angel Pujana 146 , Paolo Radice 147 , Juliane Ramser 148 , Johanna Rantala 149 , Muhammad U Rashid 86, 150 , Kerstin Rhiem 31, 32, 33 , Piera Rizzolo 81 , Mark E Robson 132 , Matti A Rookus 128 , Caroline M Rossing 25 , Kathryn J Ruddy 151 , Catarina Santos 143 , Claire Saule 22 , Rosa Scarpitta 152 , Rita K Schmutzler 32, 33 , Hélène Schuster 153 , Leigha Senter 154 , Caroline M Seynaeve 94 , Payal D Shah 35 , Priyanka Sharma 155 , Vivian Y Shin 110 , Valentina Silvestri 81 , Jacques Simard 156 , Christian F Singer 157 , Anne-Bine Skytte 98 , Katie Snape 158 , Angela R Solano 159 , Penny Soucy 155 , Melissa C Southey 160, 161 , Amanda B Spurdle 141 , Linda Steele 59 , Doris Steinemann 162 , Dominique Stoppa-Lyonnet 22, 163, 164 , Agostina Stradella 165 , Lone Sunde 97 , Christian Sutter 166 , Yen Y Tan 167 , Manuel R Teixeira 143, 168 , Soo Hwang Teo 169, 170 , Mads Thomassen 109 , Maria Grazia Tibiletti 46 , Marc Tischkowitz 171, 172 , Silvia Tognazzo 7 , Amanda E Toland 173 , Stefania Tommasi 174 , Diana Torres 86, 175 , Angela Toss 52 , Alison H Trainer 95 , Nadine Tung 176 , Christi J van Asperen 177 , Frederieke H van der Baan 128 , Lizet E van der Kolk 87 , Rob B van der Luijt 178 , Liselotte P van Hest 179 , Liliana Varesco 180 , Raymonda Varon-Mateeva 136 , Alessandra Viel 57 , Jeroen Vierstraete 50 , Roberta Villa 19 , Anna von Wachenfeldt 17 , Philipp Wagner 181 , Shan Wang-Gohrke 182 , Barbara Wappenschmidt 32, 33 , Jeffrey N Weitzel 183 , Greet Wieme 50 , Siddhartha Yadav 151 , Drakoulis Yannoukakos 76 , Sook-Yee Yoon 184 , Cristina Zanzottera 19 , Kristin K Zorn 121 , Anthony V D'Amico 1 , Matthew L Freedman 4 , Mark M Pomerantz 4 , Georgia Chenevix-Trench 141 , Antonis C Antoniou 5 , Susan L Neuhausen 59 , Laura Ottini 81 , Henriette Roed Nielsen 109 , Timothy R Rebbeck 2, 4
Cancer Research ( IF 12.5 ) Pub Date : 2019-11-13 , DOI: 10.1158/0008-5472.can-19-1840 Vivek L Patel 1 , Evan L Busch 2, 3 , Tara M Friebel 2, 4 , Angel Cronin 4 , Goska Leslie 5 , Lesley McGuffog 5 , Julian Adlard 6 , Simona Agata 7 , Bjarni A Agnarsson 8, 9 , Munaza Ahmed 10 , Kristiina Aittomäki 11 , Elisa Alducci 7 , Irene L Andrulis 12, 13 , Adalgeir Arason 8, 14 , Norbert Arnold 15 , Grazia Artioli 16 , Brita Arver 17 , Bernd Auber 18 , Jacopo Azzollini 19 , Judith Balmaña 20 , Rosa B Barkardottir 8, 14 , Daniel R Barnes 5 , Alicia Barroso 21 , Daniel Barrowdale 5 , Muriel Belotti 22 , Javier Benitez 23, 24 , Birgitte Bertelsen 25 , Marinus J Blok 26 , Istvan Bodrogi 27 , Valérie Bonadona 28 , Bernardo Bonanni 29 , Davide Bondavalli 29 , Susanne E Boonen 30 , Julika Borde 31, 32, 33 , Ake Borg 34 , Angela R Bradbury 35 , Angela Brady 36 , Carole Brewer 37 , Joan Brunet 38 , Bruno Buecher 22 , Saundra S Buys 39 , Santiago Cabezas-Camarero 40 , Trinidad Caldés 41 , Almuth Caliebe 42 , Maria A Caligo 43 , Mariarosaria Calvello 29 , Ian G Campbell 44, 45 , Ileana Carnevali 46 , Estela Carrasco 20 , Tsun L Chan 47, 48 , Annie T W Chu 47 , Wendy K Chung 49 , Kathleen B M Claes 50 , Gemo Study Collaborators 22 , Embrace Collaborators 5 , Jackie Cook 51 , Laura Cortesi 52 , Fergus J Couch 53 , Mary B Daly 54 , Giuseppe Damante 55 , Esther Darder 38 , Rosemarie Davidson 56 , Miguel de la Hoya 41 , Lara Della Puppa 57 , Joe Dennis 5 , Orland Díez 58 , Yuan Chun Ding 59 , Nina Ditsch 60 , Susan M Domchek 35 , Alan Donaldson 61 , Bernd Dworniczak 62 , Douglas F Easton 5, 63 , Diana M Eccles 64 , Rosalind A Eeles 65 , Hans Ehrencrona 66 , Bent Ejlertsen 67 , Christoph Engel 68, 69 , D Gareth Evans 70, 71 , Laurence Faivre 72 , Ulrike Faust 73 , Lídia Feliubadaló 74 , Lenka Foretova 75 , Florentia Fostira 76 , George Fountzilas 77 , Debra Frost 5 , Vanesa García-Barberán 41 , Pilar Garre 41 , Marion Gauthier-Villars 22 , Lajos Géczi 27 , Andrea Gehrig 78 , Anne-Marie Gerdes 79 , Paul Gesta 80 , Giuseppe Giannini 81 , Gord Glendon 12 , Andrew K Godwin 82 , David E Goldgar 83 , Mark H Greene 84 , Angelica M Gutierrez-Barrera 85 , Eric Hahnen 32, 33 , Ute Hamann 86 , Jan Hauke 31, 32, 33 , Natalie Herold 31, 32, 33 , Frans B L Hogervorst 87 , Ellen Honisch 88 , John L Hopper 89 , Peter J Hulick 90, 91 , KConFab Investigators 44, 45 , Hebon Investigators 92 , Louise Izatt 93 , Agnes Jager 94 , Paul James 45, 95 , Ramunas Janavicius 96 , Uffe Birk Jensen 97 , Thomas Dyrso Jensen 98 , Oskar Th Johannsson 99 , Esther M John 100 , Vijai Joseph 101 , Eunyoung Kang 102 , Karin Kast 103 , Johanna I Kiiski 104 , Sung-Won Kim 105 , Zisun Kim 106 , Kwang-Pil Ko 107 , Irene Konstantopoulou 76 , Gero Kramer 108 , Lotte Krogh 109 , Torben A Kruse 109 , Ava Kwong 47, 110, 111 , Mirjam Larsen 31, 32, 33 , Christine Lasset 28 , Charlotte Lautrup 112 , Conxi Lazaro 74 , Jihyoun Lee 113 , Jong Won Lee 114 , Min Hyuk Lee 113 , Johannes Lemke 115 , Fabienne Lesueur 22, 116, 117, 118 , Annelie Liljegren 17 , Annika Lindblom 119, 120 , Patricia Llovet 41 , Adria Lopez-Fernández 20 , Irene Lopez-Perolio 41 , Victor Lorca 41 , Jennifer T Loud 84 , Edmond S K Ma 47, 48 , Phuong L Mai 121 , Siranoush Manoukian 19 , Veronique Mari 122 , Lynn Martin 123 , Laura Matricardi 7 , Noura Mebirouk 22, 116, 117, 118 , Veronica Medici 52 , Hanne E J Meijers-Heijboer 124 , Alfons Meindl 60 , Arjen R Mensenkamp 125 , Clare Miller 126 , Denise Molina Gomes 127 , Marco Montagna 7 , Thea M Mooij 128 , Lidia Moserle 7 , Emmanuelle Mouret-Fourme 22 , Anna Marie Mulligan 129, 130 , Katherine L Nathanson 35 , Marie Navratilova 75 , Heli Nevanlinna 104 , Dieter Niederacher 89 , Finn C Cilius Nielsen 25 , Liene Nikitina-Zake 131 , Kenneth Offit 102, 132 , Edith Olah 133 , Olufunmilayo I Olopade 134 , Kai-Ren Ong 135 , Ana Osorio 23, 24 , Claus-Eric Ott 136 , Domenico Palli 137 , Sue K Park 138, 139, 140 , Michael T Parsons 141 , Inge Sokilde Pedersen 142 , Bernard Peissel 19 , Ana Peixoto 143 , Pedro Pérez-Segura 40 , Paolo Peterlongo 144 , Annabeth Høgh Petersen 98 , Mary E Porteous 145 , Miguel Angel Pujana 146 , Paolo Radice 147 , Juliane Ramser 148 , Johanna Rantala 149 , Muhammad U Rashid 86, 150 , Kerstin Rhiem 31, 32, 33 , Piera Rizzolo 81 , Mark E Robson 132 , Matti A Rookus 128 , Caroline M Rossing 25 , Kathryn J Ruddy 151 , Catarina Santos 143 , Claire Saule 22 , Rosa Scarpitta 152 , Rita K Schmutzler 32, 33 , Hélène Schuster 153 , Leigha Senter 154 , Caroline M Seynaeve 94 , Payal D Shah 35 , Priyanka Sharma 155 , Vivian Y Shin 110 , Valentina Silvestri 81 , Jacques Simard 156 , Christian F Singer 157 , Anne-Bine Skytte 98 , Katie Snape 158 , Angela R Solano 159 , Penny Soucy 155 , Melissa C Southey 160, 161 , Amanda B Spurdle 141 , Linda Steele 59 , Doris Steinemann 162 , Dominique Stoppa-Lyonnet 22, 163, 164 , Agostina Stradella 165 , Lone Sunde 97 , Christian Sutter 166 , Yen Y Tan 167 , Manuel R Teixeira 143, 168 , Soo Hwang Teo 169, 170 , Mads Thomassen 109 , Maria Grazia Tibiletti 46 , Marc Tischkowitz 171, 172 , Silvia Tognazzo 7 , Amanda E Toland 173 , Stefania Tommasi 174 , Diana Torres 86, 175 , Angela Toss 52 , Alison H Trainer 95 , Nadine Tung 176 , Christi J van Asperen 177 , Frederieke H van der Baan 128 , Lizet E van der Kolk 87 , Rob B van der Luijt 178 , Liselotte P van Hest 179 , Liliana Varesco 180 , Raymonda Varon-Mateeva 136 , Alessandra Viel 57 , Jeroen Vierstraete 50 , Roberta Villa 19 , Anna von Wachenfeldt 17 , Philipp Wagner 181 , Shan Wang-Gohrke 182 , Barbara Wappenschmidt 32, 33 , Jeffrey N Weitzel 183 , Greet Wieme 50 , Siddhartha Yadav 151 , Drakoulis Yannoukakos 76 , Sook-Yee Yoon 184 , Cristina Zanzottera 19 , Kristin K Zorn 121 , Anthony V D'Amico 1 , Matthew L Freedman 4 , Mark M Pomerantz 4 , Georgia Chenevix-Trench 141 , Antonis C Antoniou 5 , Susan L Neuhausen 59 , Laura Ottini 81 , Henriette Roed Nielsen 109 , Timothy R Rebbeck 2, 4
Affiliation
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.
中文翻译：
BRCA1 和 BRCA2 基因组结构域与前列腺癌风险和侵袭性的关联。
BRCA1 或 BRCA2 (BRCA1/2) 的致病序列变异 (PSV) 与前列腺癌的风险和严重程度增加相关。我们使用包含 65 名患有前列腺癌的 BRCA1 和 171 名 BRCA2 男性 PSV 携带者以及 3,388 名 BRCA1 和 2,880 名 BRCA2 男性的国际样本，评估了 BRCA1/2 中的 PSV 是否与整体前列腺癌或高级别（格里森 8+）前列腺癌的风险相关。没有前列腺癌的 PSV 携带者。与参考 bin c.1001-c.7913 相比，BRCA2 (c.7914+) 3' 区域中的 PSV 与前列腺癌风险升高显着相关 [HR = 1.78； 95%置信区间（CI），1.25-2.52； P = 0.001]，以及格里森 8+ 前列腺癌的风险升高（HR = 3.11；95% CI，1.63-5.95；P = 0.001）。 c.756-c.1000 还与前列腺癌风险升高相关（HR = 2.83；95% CI，1.71-4.68；P = 0.00004），并且与 Gleason 8+ 前列腺癌风险升高相关（HR = 4.95；95% CI， 2.12-11.54；P = 0.0002)。在 BRCA1 中未检测到 PSV 的基因型-表型关联。这些结果表明，特定的 BRCA2 PSV 可能与罹患侵袭性前列腺癌的风险升高相关。意义：BRCA2 突变携带者罹患侵袭性前列腺癌的风险可能会根据高危个体遗传的特定 BRCA2 突变而有所不同。
更新日期：2020-02-03
中文翻译：
BRCA1 和 BRCA2 基因组结构域与前列腺癌风险和侵袭性的关联。
BRCA1 或 BRCA2 (BRCA1/2) 的致病序列变异 (PSV) 与前列腺癌的风险和严重程度增加相关。我们使用包含 65 名患有前列腺癌的 BRCA1 和 171 名 BRCA2 男性 PSV 携带者以及 3,388 名 BRCA1 和 2,880 名 BRCA2 男性的国际样本，评估了 BRCA1/2 中的 PSV 是否与整体前列腺癌或高级别（格里森 8+）前列腺癌的风险相关。没有前列腺癌的 PSV 携带者。与参考 bin c.1001-c.7913 相比，BRCA2 (c.7914+) 3' 区域中的 PSV 与前列腺癌风险升高显着相关 [HR = 1.78； 95%置信区间（CI），1.25-2.52； P = 0.001]，以及格里森 8+ 前列腺癌的风险升高（HR = 3.11；95% CI，1.63-5.95；P = 0.001）。 c.756-c.1000 还与前列腺癌风险升高相关（HR = 2.83；95% CI，1.71-4.68；P = 0.00004），并且与 Gleason 8+ 前列腺癌风险升高相关（HR = 4.95；95% CI， 2.12-11.54；P = 0.0002)。在 BRCA1 中未检测到 PSV 的基因型-表型关联。这些结果表明，特定的 BRCA2 PSV 可能与罹患侵袭性前列腺癌的风险升高相关。意义：BRCA2 突变携带者罹患侵袭性前列腺癌的风险可能会根据高危个体遗传的特定 BRCA2 突变而有所不同。
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