Role of common genetic variants in ovarian cancer susceptibility and outcome: progress to date from the ovarian cancer association consortium (OCAC)

被引:40
作者
Bolton, K. L. [2 ]
Ganda, C. [3 ]
Berchuck, A. [4 ]
Pharaoh, P. D. P. [5 ]
Gayther, S. A. [1 ]
机构
[1] Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA
[2] NCI, Div Canc Epidemiol & Genet, NIH, Dept Hlth & Human Serv, Rockville, MD USA
[3] UCL, EGA Inst Womens Hlth, Gynaecol Canc Res Labs, London, England
[4] Duke Univ, Med Ctr, Div Gynecol Oncol, Dept Obstet & Gynaecol, Durham, NC USA
[5] Univ Cambridge, Dept Oncol, Cambridge, England
关键词
clinical outcome; ovarian cancer; susceptibility SNPs; PROGESTERONE-RECEPTOR GENE; GENOME-WIDE ASSOCIATION; SINGLE-NUCLEOTIDE POLYMORPHISMS; PLATINUM-BASED CHEMOTHERAPY; S-TRANSFERASE POLYMORPHISMS; NEGATIVE BREAST-CANCER; DNA-REPAIR GENES; MUTATION CARRIERS; RISK PREDICTION; GERM-LINE;
D O I
10.1111/j.1365-2796.2011.02509.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
In this article, we review the current knowledge of the inherited genetics of epithelial ovarian cancer (EOC) susceptibility and clinical outcome. We focus on recent developments in identifying low-penetrance susceptibility genes and the role of the ovarian cancer association consortium (OCAC) in these discoveries. The OCAC was established to facilitate large-scale replication analyses for reported genetic associations for EOC. Since its inception, the OCAC has conducted both candidate gene and genome-wide association studies (GWAS); the latter has identified six established loci for EOC susceptibility, most of which showed stronger association with the serous histological subtype. Future GWAS and sequencing studies are likely to result in the discovery of additional susceptibility loci and may result in established associations with clinical outcome. Additional rare and uncommon ovarian cancer loci will likely be uncovered from high-throughput next-generation sequencing studies. Applying these novel findings to establish improved preventative and clinical intervention strategies will be one of the major challenges of future work.
引用
收藏
页码:366 / 378
页数:13
相关论文
共 106 条
[1]  
Aarnio M, 1999, INT J CANCER, V81, P214, DOI 10.1002/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO
[2]  
2-L
[3]   A germline variation in the progesterone receptor gene increases transcriptional activity and may modify ovarian cancer risk [J].
Agoulnik, IU ;
Tong, XW ;
Fischer, DC ;
Körner, K ;
Atkinson, NE ;
Edwards, DP ;
Headon, DR ;
Weigel, NL ;
Kieback, DG .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2004, 89 (12) :6340-6347
[4]   A map of human genome variation from population-scale sequencing [J].
Altshuler, David ;
Durbin, Richard M. ;
Abecasis, Goncalo R. ;
Bentley, David R. ;
Chakravarti, Aravinda ;
Clark, Andrew G. ;
Collins, Francis S. ;
De la Vega, Francisco M. ;
Donnelly, Peter ;
Egholm, Michael ;
Flicek, Paul ;
Gabriel, Stacey B. ;
Gibbs, Richard A. ;
Knoppers, Bartha M. ;
Lander, Eric S. ;
Lehrach, Hans ;
Mardis, Elaine R. ;
McVean, Gil A. ;
Nickerson, DebbieA. ;
Peltonen, Leena ;
Schafer, Alan J. ;
Sherry, Stephen T. ;
Wang, Jun ;
Wilson, Richard K. ;
Gibbs, Richard A. ;
Deiros, David ;
Metzker, Mike ;
Muzny, Donna ;
Reid, Jeff ;
Wheeler, David ;
Wang, Jun ;
Li, Jingxiang ;
Jian, Min ;
Li, Guoqing ;
Li, Ruiqiang ;
Liang, Huiqing ;
Tian, Geng ;
Wang, Bo ;
Wang, Jian ;
Wang, Wei ;
Yang, Huanming ;
Zhang, Xiuqing ;
Zheng, Huisong ;
Lander, Eric S. ;
Altshuler, David L. ;
Ambrogio, Lauren ;
Bloom, Toby ;
Cibulskis, Kristian ;
Fennell, Tim J. ;
Gabriel, Stacey B. .
NATURE, 2010, 467 (7319) :1061-1073
[5]   A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes [J].
Antoniou, AC ;
Pharoah, PDP ;
McMullan, G ;
Day, NE ;
Stratton, MR ;
Peto, J ;
Ponder, BJ ;
Easton, DF .
BRITISH JOURNAL OF CANCER, 2002, 86 (01) :76-83
[6]   A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population [J].
Antoniou, Antonis C. ;
Wang, Xianshu ;
Fredericksen, Zachary S. ;
McGuffog, Lesley ;
Tarrell, Robert ;
Sinilnikova, Olga M. ;
Healey, Sue ;
Morrison, Jonathan ;
Kartsonaki, Christiana ;
Lesnick, Timothy ;
Ghoussaini, Maya ;
Barrowdale, Daniel ;
Peock, Susan ;
Cook, Margaret ;
Oliver, Clare ;
Frost, Debra ;
Eccles, Diana ;
Evans, D. Gareth ;
Eeles, Ros ;
Izatt, Louise ;
Chu, Carol ;
Douglas, Fiona ;
Paterson, Joan ;
Stoppa-Lyonnet, Dominique ;
Houdayer, Claude ;
Mazoyer, Sylvie ;
Giraud, Sophie ;
Lasset, Christine ;
Remenieras, Audrey ;
Caron, Olivier ;
Hardouin, Agnes ;
Berthet, Pascaline ;
Hogervorst, Frans B. L. ;
Rookus, Matti A. ;
Jager, Agnes ;
van den Ouweland, Ans ;
Hoogerbrugge, Nicoline ;
van der Luijt, Rob B. ;
Meijers-Heijboer, Hanne ;
Garcia, Encarna B. Gomez ;
Devilee, Peter ;
Vreeswijk, Maaike P. G. ;
Lubinski, Jan ;
Jakubowska, Anna ;
Gronwald, Jacek ;
Huzarski, Tomasz ;
Byrski, Tomasz ;
Gorski, Bohdan ;
Cybulski, Cezary ;
Spurdle, Amanda B. .
NATURE GENETICS, 2010, 42 (10) :885-+
[7]   Polymorphisms in DNA repair genes and epithelial ovarian cancer risk [J].
Auranen, A ;
Song, HL ;
Waterfall, C ;
DiCioccio, RA ;
Kuschel, B ;
Kjaer, SK ;
Hogdall, E ;
Hogdall, C ;
Stratton, J ;
Whittemore, AS ;
Easton, DF ;
Ponder, BAJ ;
Novik, KL ;
Dunning, AM ;
Gayther, S ;
Pharoah, PDP .
INTERNATIONAL JOURNAL OF CANCER, 2005, 117 (04) :611-618
[8]   BRCA2 Arg372His polymorphism and epithelial ovarian cancer risk [J].
Auranen, A ;
Spurdle, AB ;
Chen, XQ ;
Lipscombe, J ;
Purdie, DM ;
Hopper, JL ;
Green, A ;
Healey, CS ;
Redman, K ;
Dunning, AM ;
Pharoah, PD ;
Easton, DF ;
Ponder, BAJ ;
Chenevix-Trench, G ;
Novik, KL .
INTERNATIONAL JOURNAL OF CANCER, 2003, 103 (03) :427-430
[9]   Both germ line and somatic genetics of the p53 pathway affect ovarian cancer incidence and survival [J].
Bartel, Frank ;
Jung, Juliane ;
Boehnke, Anja ;
Gradhand, Elise ;
Zeng, Katharina ;
Thomssen, Christoph ;
Hauptmann, Steffen .
CLINICAL CANCER RESEARCH, 2008, 14 (01) :89-96
[10]   Glutathione S-transferase polymorphisms and ovarian cancer treatment and survival [J].
Beeghly, A ;
Katsaros, D ;
Chen, H ;
Fracchioli, S ;
Zhang, Y ;
Massobrio, M ;
Risch, H ;
Jones, B ;
Yu, H .
GYNECOLOGIC ONCOLOGY, 2006, 100 (02) :330-337