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

[21] Predisposing gene for early-onset prostate cancer, localized on chromosome 1q42.2-43 [J].

Berthon, P ;

Valeri, A ;

Cohen-Akenine, A ;

Drelon, E ;

Paiss, T ;

Wöhr, G ;

Latil, A ;

Millasseau, P ;

Mellah, I ;

Cohen, N ;

Blanché, H ;

Bellané-Chantelot, C ;

Demenais, F ;

Teillac, P ;

Le Duc, A ;

de Petriconi, R ;

Hautmann, R ;

Chumakov, I ;

Bachner, L ;

Maitland, NJ ;

Lidereau, R ;

Vogel, W ;

Fournier, G ;

Mangin, P ;

Cohen, D ;

Cussenot, O .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (06) :1416-1424

[22] Direct-to-consumer personalized genomic testing [J].

Bloss, Cinnamon S. ;

Darst, Burcu F. ;

Topol, Eric J. ;

Schork, Nicholas J. .

HUMAN MOLECULAR GENETICS, 2011, 20 :R132-R141

[23]

Breast Canc Linkage Consortium, 1999, JNCI-J NATL CANCER I, V91, P1310

[24] Prostate-Cancer Screening - What the US Preventive Services Task Force Left Out [J].

Brett, Allan S. ;

Ablin, Richard J. .

NEW ENGLAND JOURNAL OF MEDICINE, 2011, 365 (21) :1949-1951

[25] Compelling evidence for a prostate cancer gene at 22q12.3 by the International Consortium for Prostate Cancer Genetics [J].

Camp, Nicola J. ;

Cannon-Albright, Lisa A. ;

Farnham, James M. ;

Baffoe-Bonnie, Agnes B. ;

George, Asha ;

Powell, Isaac ;

Bailey-Wilson, Joan E. ;

Carpten, John D. ;

Giles, Graham G. ;

Hopper, John L. ;

Severi, Gianluca ;

English, Dallas R. ;

Foulkes, William D. ;

Maehle, Lovise ;

Moller, Pal ;

Eeles, Ros ;

Easton, Douglas ;

Badzioch, Michael D. ;

Whittemore, Alice S. ;

Oakley-Girvan, Ingrid ;

Hsieh, Chih-Lin ;

Dimitrov, Latchezar ;

Xu, Jianfeng ;

Stanford, Janet L. ;

Johanneson, Bo ;

Deutsch, Kerry ;

Mcintosh, Laura ;

Ostrander, Elaine A. ;

Wiley, Kathleen E. ;

Isaacs, Sarah D. ;

Walsh, Patrick C. ;

Thibodeau, Stephen N. ;

McDonnell, Shannon K. ;

Hebbring, Scott ;

Schaid, Daniel J. ;

Lange, Ethan M. ;

Cooney, Kathleen A. ;

Tammela, Teuvo L. J. ;

Schleutker, Johanna ;

Paiss, Thomas ;

Maier, Christiane ;

Gronberg, Henrik ;

Wiklund, Fredrik ;

Emanuelsson, Monica ;

Isaacs, William B. .

HUMAN MOLECULAR GENETICS, 2007, 16 (11) :1271-1278

[26] No evidence of linkage to HPC20 on chromosome 20q13 in hereditary prostate canter [J].

Cancel-Tassin, G ;

Latil, A ;

Valéri, A ;

Guillaume, E ;

Mangin, P ;

Fournier, G ;

Berthon, P ;

Cussenot, O .

INTERNATIONAL JOURNAL OF CANCER, 2001, 93 (03) :455-456

[27]

Cancer Research UK, 2012, LIF RISK CANC

[28] MENDELIAN INHERITANCE OF FAMILIAL PROSTATE-CANCER [J].

CARTER, BS ;

BEATY, TH ;

STEINBERG, GD ;

CHILDS, B ;

WALSH, PC .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (08) :3367-3371

[29]

Castro E., 2013, AM SOC CLIN ONCOL ED, V2013, P50, DOI DOI 10.1200/EDB00K_

[30] Germline BRCA Mutations Are Associated With Higher Risk of Nodal Involvement, Distant Metastasis, and Poor Survival Outcomes in Prostate Cancer [J].

Castro, Elena ;

Goh, Chee ;

Olmos, David ;

Saunders, Ed ;

Leongamornlert, Daniel ;

Tymrakiewicz, Malgorzata ;

Mahmud, Nadiya ;

Dadaev, Tokhir ;

Govindasami, Koveela ;

Guy, Michelle ;

Sawyer, Emma ;

Wilkinson, Rosemary ;

Ardern-Jones, Audrey ;

Ellis, Steve ;

Frost, Debra ;

Peock, Susan ;

Evans, D. Gareth ;

Tischkowitz, Marc ;

Cole, Trevor ;

Davidson, Rosemarie ;

Eccles, Diana ;

Brewer, Carole ;

Douglas, Fiona ;

Porteous, Mary E. ;

Donaldson, Alan ;

Dorkins, Huw ;

Izatt, Louise ;

Cook, Jackie ;

Hodgson, Shirley ;

Kennedy, M. John ;

Side, Lucy E. ;

Eason, Jacqueline ;

Murray, Alex ;

Antoniou, Antonis C. ;

Easton, Douglas F. ;

Kote-Jarai, Zsofia ;

Eeles, Rosalind .

JOURNAL OF CLINICAL ONCOLOGY, 2013, 31 (14) :1748-+

← 1 2 3 4 5 6 7 8 9 10 →