Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14

被引：126

作者：

Ruark, Elise ^{[1
,2
]}

Seal, Sheila ^{[1
,2
]}

McDonald, Heather ^{[1
,2
]}

Zhang, Feng ^{[1
,2
]}

Elliot, Anna ^{[1
,2
]}

Lau, KingWai ^{[1
,2
]}

Perdeaux, Elizabeth ^{[1
,2
]}

Rapley, Elizabeth ^{[1
,2
]}

Eeles, Rosalind ^{[1
,2
,3
]}

Peto, Julian ^{[4
]}

Kote-Jarai, Zsofia ^{[1
,2
]}

Muir, Kenneth ^{[5
]}

Nsengimana, Jeremie ^{[6
]}

Shipley, Janet ^{[7
]}

Bishop, D. Timothy ^{[6
]}

Stratton, Michael R. ^{[8
]}

Easton, Douglas F. ^{[9
]}

Huddart, Robert A. ^{[10
]}

Rahman, Nazneen ^{[1
,2
]}

Turnbull, Clare ^{[1
,2
]}

机构：

[1] Inst Canc Res, Div Genet & Epidemiol, Sutton, Surrey, England

[2] Royal Marsden Natl Hlth Serv NHS Fdn, Fulham, SA, Australia

[3] Royal Marsden Natl Hlth Serv NHS Fdn, Sutton, Surrey, England

[4] Univ London London Sch Hyg & Trop Med, Dept Noncommunicable Dis Epidemiol, London WC1E 7HT, England

[5] Univ Warwick, Warwick Med Sch, Coventry CV4 7AL, W Midlands, England

[6] Leeds Inst Mol Med, Sect Epidemiol & Biostat, Leeds, W Yorkshire, England

[7] Inst Canc Res, Sutton, Surrey, England

[8] Wellcome Trust Sanger Inst, Cambridge, England

[9] Canc Res UK, Strangeways Res Lab, Genet Epidemiol Unit, Cambridge, England

[10] Inst Canc Res, Acad Radiotherapy Unit, Sutton, Surrey, England

来源：

NATURE GENETICS | 2013年 / 45卷 / 06期

基金：

英国惠康基金;

关键词：

GENOME-WIDE ASSOCIATION; GERM-CELL LINEAGE; TERT-CLPTM1L LOCUS; AUTOSOMAL GENE; BREAST-CANCER; MICE; PROTEIN; TESTIS; TUMOR; TEX14;

D O I：

10.1038/ng.2635

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Testicular germ cell tumor (TGCT) is the most common cancer in young men and is notable for its high familial risks(1,2). So far, six loci associated with TGCT have been reported(3-7). From genome-wide association study (GWAS) analysis of 307,291 SNPs in 986 TGCT cases and 4,946 controls, we selected for follow-up 694 SNPs, which we genotyped in a further 1,064 TGCT cases and 10,082 controls from the UK. We identified SNPs at nine new loci (1q22, 1q24.1, 3p24.3, 4q24, 5q31.1, 8q13.3, 16q12.1, 17q22 and 21q22.3) showing association with TGCT (P < 5 x 10(-8)), which together account for an additional 4-6% of the familial risk of TGCT. The loci include genes plausibly related to TGCT development. PRDM14, at 8q13.3, is essential for early germ cell specification(8), and DAZL, at 3p24.3, is required for the regulation of germ cell development(9). Furthermore, PITX1, at 5q31.1, regulates TERT expression and is the third TGCT-associated locus implicated in telomerase regulation(10).

引用

页码：686 / +

页数：6

共 47 条

[1] Interpreting the international trends in testicular seminoma and nonseminoma incidence [J].

Bray, Freddie ;

Ferlay, Jacques ;

Devesa, Susan S. ;

McGlynn, Katherine A. ;

Moller, Henrik .

NATURE CLINICAL PRACTICE UROLOGY, 2006, 3 (10) :532-543

[2] A genome-wide RNAi screen reveals determinants of human embryonic stem cell identity [J].

Chia, Na-Yu ;

Chan, Yun-Shen ;

Feng, Bo ;

Lu, Xinyi ;

Orlov, Yuriy L. ;

Moreau, Dimitri ;

Kumar, Pankaj ;

Yang, Lin ;

Jiang, Jianming ;

Lau, Mei-Sheng ;

Huss, Mikael ;

Soh, Boon-Seng ;

Kraus, Petra ;

Li, Pin ;

Lufkin, Thomas ;

Lim, Bing ;

Clarke, Neil D. ;

Bard, Frederic ;

Ng, Huck-Hui .

NATURE, 2010, 468 (7321) :316-U207

[3] Meta-analysis identifies four new loci associated with testicular germ cell tumor [J].

Chung, Charles C. ;

Kanetsky, Peter A. ;

Wang, Zhaoming ;

Hildebrandt, Michelle A. T. ;

Koster, Roelof ;

Skotheim, Rolf I. ;

Kratz, Christian P. ;

Turnbull, Clare ;

Cortessis, Victoria K. ;

Bakken, Anne C. ;

Bishop, D. Timothy ;

Cook, Michael B. ;

Erickson, R. Loren ;

Fossa, Sophie D. ;

Jacobs, Kevin B. ;

Korde, Larissa A. ;

Kraggerud, Sigrid M. ;

Lothe, Ragnhild A. ;

Loud, Jennifer T. ;

Rahman, Nazneen ;

Skinner, Eila C. ;

Thomas, Duncan C. ;

Wu, Xifeng ;

Yeager, Meredith ;

Schumacher, Fredrick R. ;

Greene, Mark H. ;

Schwartz, Stephen M. ;

McGlynn, Katherine A. ;

Chanock, Stephen J. ;

Nathanson, Katherine L. .

NATURE GENETICS, 2013, 45 (06) :680-+

[4] Prdm14 initiates lymphoblastic leukemia after expanding a population of cells resembling common lymphoid progenitors [J].

Dettman, E. J. ;

Simko, S. J. ;

Ayanga, B. ;

Carofino, B. L. ;

Margolin, J. F. ;

Morse, H. C., III ;

Justice, M. J. .

ONCOGENE, 2011, 30 (25) :2859-2873

[5] The Zinc Finger SET Domain Gene Prdm14 Is Overexpressed in Lymphoblastic Lymphomas with Retroviral Insertions at Evi32 [J].

Dettman, E. J. ;

Justice, Monica J. .

PLOS ONE, 2008, 3 (11)

[6] Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array [J].

Eeles, Rosalind A. ;

Al Olama, Ali Amin ;

Benlloch, Sara ;

Saunders, Edward J. ;

Leongamornlert, Daniel A. ;

Tymrakiewicz, Malgorzata ;

Ghoussaini, Maya ;

Luccarini, Craig ;

Dennis, Joe ;

Jugurnauth-Little, Sarah ;

Dadaev, Tokhir ;

Neal, David E. ;

Hamdy, Freddie C. ;

Donovan, Jenny L. ;

Muir, Ken ;

Giles, Graham G. ;

Severi, Gianluca ;

Wiklund, Fredrik ;

Gronberg, Henrik ;

Haiman, Christopher A. ;

Schumacher, Fredrick ;

Henderson, Brian E. ;

Le Marchand, Loic ;

Lindstrom, Sara ;

Kraft, Peter ;

Hunter, David J. ;

Gapstur, Susan ;

Chanock, Stephen J. ;

Berndt, Sonja I. ;

Albanes, Demetrius ;

Andriole, Gerald ;

Schleutker, Johanna ;

Weischer, Maren ;

Canzian, Federico ;

Riboli, Elio ;

Key, Tim J. ;

Travis, Ruth C. ;

Campa, Daniele ;

Ingles, Sue A. ;

John, Esther M. ;

Hayes, Richard B. ;

Pharoah, Paul D. P. ;

Pashayan, Nora ;

Khaw, Kay-Tee ;

Stanford, Janet L. ;

Ostrander, Elaine A. ;

Signorello, Lisa B. ;

Thibodeau, Stephen N. ;

Schaid, Dan ;

Maier, Christiane .

NATURE GENETICS, 2013, 45 (04) :385-391

[7] Mapping and analysis of chromatin state dynamics in nine human cell types [J].

Ernst, Jason ;

Kheradpour, Pouya ;

Mikkelsen, Tarjei S. ;

Shoresh, Noam ;

Ward, Lucas D. ;

Epstein, Charles B. ;

Zhang, Xiaolan ;

Wang, Li ;

Issner, Robbyn ;

Coyne, Michael ;

Ku, Manching ;

Durham, Timothy ;

Kellis, Manolis ;

Bernstein, Bradley E. .

NATURE, 2011, 473 (7345) :43-U52

[8] Testicular germ cell tumours: predisposition genes and the male germ cell niche [J].

Gilbert, Duncan ;

Rapley, Elizabeth ;

Shipley, Janet .

NATURE REVIEWS CANCER, 2011, 11 (04) :278-288

[9] TEX14 is essential for intercellular bridges and fertility in male mice [J].

Greenbaum, MP ;

Yan, W ;

Wu, MH ;

Lin, YN ;

Agno, JE ;

Sharma, M ;

Braun, RE ;

Rajkovic, A ;

Matzuk, MM .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (13) :4982-4987

[10] A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer [J].

Haiman, Christopher A. ;

Chen, Gary K. ;

Vachon, Celine M. ;

Canzian, Federico ;

Dunning, Alison ;

Millikan, Robert C. ;

Wang, Xianshu ;

Ademuyiwa, Foluso ;

Ahmed, Shahana ;

Ambrosone, Christine B. ;

Baglietto, Laura ;

Balleine, Rosemary ;

Bandera, Elisa V. ;

Beckmann, Matthias W. ;

Berg, Christine D. ;

Bernstein, Leslie ;

Blomqvist, Carl ;

Blot, William J. ;

Brauch, Hiltrud ;

Buring, Julie E. ;

Carey, Lisa A. ;

Carpenter, Jane E. ;

Chang-Claude, Jenny ;

Chanock, Stephen J. ;

Chasman, Daniel I. ;

Clarke, Christine L. ;

Cox, Angela ;

Cross, Simon S. ;

Deming, Sandra L. ;

Diasio, Robert B. ;

Dimopoulos, Athanasios M. ;

Driver, W. Ryan ;

Duennebier, Thomas ;

Durcan, Lorraine ;

Eccles, Diana ;

Edlund, Christopher K. ;

Ekici, Arif B. ;

Fasching, Peter A. ;

Feigelson, Heather S. ;

Flesch-Janys, Dieter ;

Fostira, Florentia ;

Foersti, Asta ;

Fountzilas, George ;

Gerty, Susan M. ;

Giles, Graham G. ;

Godwin, Andrew K. ;

Goodfellow, Paul ;

Graham, Nikki ;

Greco, Dario ;

Hamann, Ute .

NATURE GENETICS, 2011, 43 (12) :1210-U61

← 1 2 3 4 5 →