The genetic epidemiology of prostate cancer and its clinical implications

被引：190

作者：

Eeles, Rosalind ^{[1
]}

Goh, Chee ^{[1
]}

Castro, Elena ^{[1
]}

Bancroft, Elizabeth ^{[2
]}

Guy, Michelle ^{[1
]}

Al Olama, Ali Amin ^{[3
]}

Easton, Douglas ^{[4
,5
]}

Kote-Jarai, Zsofia ^{[1
]}

机构：

[1] Inst Canc Res, Oncogenet Team, Div Canc Genet & Epidemiol, Sutton SM2 5NG, Surrey, England

[2] Royal Marsden NHS Fdn Trust, Clin Acad Canc Genet Unit, Sutton SM2 5PT, Surrey, England

[3] Univ Cambridge, Canc Res UK Ctr Canc Genet Epidemiol, Strangeways Lab, Cambridge CB1 8RN, England

[4] Univ Cambridge, Dept Publ Hlth & Primary Care, Strangeways Lab, Cambridge CB1 8RN, England

[5] Univ Cambridge, Dept Oncol, Strangeways Lab, Cambridge CB1 8RN, England

来源：

NATURE REVIEWS UROLOGY | 2014年 / 11卷 / 01期

关键词：

GENOME-WIDE ASSOCIATION; ANDROGEN DEPRIVATION THERAPY; BRCA2 MUTATION CARRIERS; INTERNATIONAL CONSORTIUM; SUSCEPTIBILITY LOCI; AFRICAN-AMERICAN; LINKAGE ANALYSIS; BREAST-CANCER; ERECTILE DYSFUNCTION; SEGREGATION ANALYSES;

D O I：

10.1038/nrurol.2013.266

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

Worldwide, familial and epidemiological studies have generated considerable evidence of an inherited component to prostate cancer. Indeed, rare highly penetrant genetic mutations have been implicated. Genome-wide association studies (GWAS) have also identified 76 susceptibility loci associated with prostate cancer risk, which occur commonly but are of low penetrance. However, these mutations interact multiplicatively, which can result in substantially increased risk. Currently, approximately 30% of the familial risk is due to such variants. Evaluating the functional aspects of these variants would contribute to our understanding of prostate cancer aetiology and would enable population risk stratification for screening. Furthermore, understanding the genetic risks of prostate cancer might inform predictions of treatment responses and toxicities, with the goal of personalized therapy. However, risk modelling and clinical translational research are needed before we can translate risk profiles generated from these variants into use in the clinical setting for targeted screening and treatment.

引用

页码：18 / 31

页数：14

共 190 条

[1] 8q24 prostate, breast, and colon cancer risk loci show tissue-specific long-range interaction with MYC [J].

Ahmadiyeh, Nasim ;

Pomerantz, Mark M. ;

Grisanzio, Chiara ;

Herman, Paula ;

Jia, Li ;

Almendro, Vanessa ;

He, Housheng Hansen ;

Brown, Myles ;

Liu, X. Shirley ;

Davis, Matt ;

Caswell, Jennifer L. ;

Beckwith, Christine A. ;

Hills, Adam ;

MacConaill, Laura ;

Coetzee, Gerhard A. ;

Regan, Meredith M. ;

Freedman, Matthew L. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2010, 107 (21) :9742-9746

[2] Common variants at 11q12, 10q26 and 3p11.2 are associated with prostate cancer susceptibility in Japanese [J].

Akamatsu, Shusuke ;

Takata, Ryo ;

Haiman, Christopher A. ;

Takahashi, Atsushi ;

Inoue, Takahiro ;

Kubo, Michiaki ;

Furihata, Mutsuo ;

Kamatani, Naoyuki ;

Inazawa, Johji ;

Chen, Gary K. ;

Le Marchand, Loic ;

Kolonel, Laurence N. ;

Katoh, Takahiko ;

Yamano, Yuko ;

Yamakado, Minoru ;

Takahashi, Hiroyuki ;

Yamada, Hiroki ;

Egawa, Shin ;

Fujioka, Tomoaki ;

Henderson, Brian E. ;

Habuchi, Tomonori ;

Ogawa, Osamu ;

Nakamura, Yusuke ;

Nakagawa, Hidewaki .

NATURE GENETICS, 2012, 44 (04) :426-U234

[3] A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease [J].

Al Olama, Ali Amin ;

Kote-Jarai, Zsofia ;

Schumacher, Fredrick R. ;

Wiklund, Fredrik ;

Berndt, Sonja I. ;

Benlloch, Sara ;

Giles, Graham G. ;

Severi, Gianluca ;

Neal, David E. ;

Hamdy, Freddie C. ;

Donovan, Jenny L. ;

Hunter, David J. ;

Henderson, Brian E. ;

Thun, Michael J. ;

Gaziano, Michael ;

Giovannucci, Edward L. ;

Siddiq, Afshan ;

Travis, Ruth C. ;

Cox, David G. ;

Canzian, Federico ;

Riboli, Elio ;

Key, Timothy J. ;

Andriole, Gerald ;

Albanes, Demetrius ;

Hayes, Richard B. ;

Schleutker, Johanna ;

Auvinen, Anssi ;

Tammela, Teuvo L. J. ;

Weischer, Maren ;

Stanford, Janet L. ;

Ostrander, Elaine A. ;

Cybulski, Cezary ;

Lubinski, Jan ;

Thibodeau, Stephen N. ;

Schaid, Daniel J. ;

Sorensen, Karina D. ;

Batra, Jyotsna ;

Clements, Judith A. ;

Chambers, Suzanne ;

Aitken, Joanne ;

Gardiner, Robert A. ;

Maier, Christiane ;

Vogel, Walther ;

Doerk, Thilo ;

Brenner, Hermann ;

Habuchi, Tomonori ;

Ingles, Sue ;

John, Esther M. ;

Dickinson, Joanne L. ;

Cannon-Albright, Lisa .

HUMAN MOLECULAR GENETICS, 2013, 22 (02) :408-415

[4] Multiple loci on 8q24 associated with prostate cancer susceptibility [J].

Al Olama, Ali Amin ;

Kote-Jarai, Zsofia ;

Giles, Graham G. ;

Guy, Michelle ;

Morrison, Jonathan ;

Severi, Gianluca ;

Leongamornlert, Daniel A. ;

Tymrakiewicz, Malgorzata ;

Jhavar, Sameer ;

Saunders, Ed ;

Hopper, John L. ;

Southey, Melissa C. ;

Muir, Kenneth R. ;

English, Dallas R. ;

Dearnaley, David P. ;

Ardern-Jones, Audrey T. ;

Hall, Amanda L. ;

O'Brien, Lynne T. ;

Wilkinson, Rosemary A. ;

Sawyer, Emma ;

Lophatananon, Artitaya ;

Horwich, Alan ;

Huddart, Robert A. ;

Khoo, Vincent S. ;

Parker, Christopher C. ;

Woodhouse, Christopher J. ;

Thompson, Alan ;

Christmas, Tim ;

Ogden, Chris ;

Cooper, Colin ;

Donovan, Jenny L. ;

Hamdy, Freddie C. ;

Neal, David E. ;

Eeles, Rosalind A. ;

Easton, Douglas F. .

NATURE GENETICS, 2009, 41 (10) :1058-1060

[5] An integrated map of genetic variation from 1,092 human genomes [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Schmidt, Jeanette P. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Dinh, Huyen ;

Kovar, Christie ;

Lee, Sandra ;

Lewis, Lora ;

Muzny, Donna ;

Reid, Jeff ;

Wang, Min ;

Wang, Jun ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Li, Zhuo ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Su, Zhe ;

Tai, Shuaishuai ;

Tang, Meifang .

NATURE, 2012, 491 (7422) :56-65

[6] A common variant associated with prostate cancer in European and African populations [J].

Amundadottir, Laufey T. ;

Sulem, Patrick ;

Gudmundsson, Julius ;

Helgason, Agnar ;

Baker, Adam ;

Agnarsson, Bjarni A. ;

Sigurdsson, Asgeir ;

Benediktsdottir, Kristrun R. ;

Cazier, Jean-Baptiste ;

Sainz, Jesus ;

Jakobsdottir, Margret ;

Kostic, Jelena ;

Magnusdottir, Droplaug N. ;

Ghosh, Shyamali ;

Agnarsson, Kari ;

Birgisdottir, Birgitta ;

Le Roux, Louise ;

Olafsdottir, Adalheidur ;

Blondal, Thorarinn ;

Andresdottir, Margret ;

Gretarsdottir, Olafia Svandis ;

Bergthorsson, Jon T. ;

Gudbjartsson, Daniel ;

Gylfason, Arnaldur ;

Thorleifsson, Gudmar ;

Manolescu, Andrei ;

Kristjansson, Kristleifur ;

Geirsson, Gudmundur ;

Isaksson, Helgi ;

Douglas, Julie ;

Johansson, Jan-Erik ;

Balter, Katarina ;

Wiklund, Fredrik ;

Montie, James E. ;

Yu, Xiaoying ;

Suarez, Brian K. ;

Ober, Carole ;

Cooney, Kathleen A. ;

Gronberg, Henrik ;

Catalona, William J. ;

Einarsson, Gudmundur V. ;

Barkardottir, Rosa B. ;

Gulcher, Jeffrey R. ;

Kong, Augustine ;

Thorsteinsdottir, Unnur ;

Stefansson, Kari .

NATURE GENETICS, 2006, 38 (06) :652-658

[7] Prostate Cancer Screening in the Randomized Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial: Mortality Results after 13 Years of Follow-up [J].

Andriole, Gerald L. ;

Crawford, E. David ;

Grubb, Robert L., III ;

Buys, Saundra S. ;

Chia, David ;

Church, Timothy R. ;

Fouad, Mona N. ;

Isaacs, Claudine ;

Kvale, Paul A. ;

Reding, Douglas J. ;

Weissfeld, Joel L. ;

Yokochi, Lance A. ;

O'Brien, Barbara ;

Ragard, Lawrence R. ;

Clapp, Jonathan D. ;

Rathmell, Joshua M. ;

Riley, Thomas L. ;

Hsing, Ann W. ;

Izmirlian, Grant ;

Pinsky, Paul F. ;

Kramer, Barnett S. ;

Miller, Anthony B. ;

Gohagan, John K. ;

Prorok, Philip C. .

JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2012, 104 (02) :125-132

[8] Mortality Results from a Randomized Prostate-Cancer Screening Trial [J].