Cell cycle genes and ovarian cancer susceptibility: a tagSNP analysis

被引：46

作者：

Cunningham, J. M. ^{[1
]}

Vierkant, R. A. ^{[2
]}

Sellers, T. A. ^{[3
]}

Phelan, C. ^{[3
]}

Rider, D. N. ^{[2
]}

Liebow, M. ^{[4
]}

Schildkraut, J. ^{[5
]}

Berchuck, A. ^{[6
]}

Couch, F. J. ^{[1
]}

Wang, X. ^{[1
]}

Fridley, B. L. ^{[2
]}

Gentry-Maharaj, A. ^{[7
]}

Menon, U. ^{[7
]}

Hogdall, E. ^{[8
]}

Kjaer, S. ^{[8
,9
]}

Whittemore, A. ^{[10
]}

DiCioccio, R. ^{[11
]}

Song, H. ^{[12
]}

Gayther, S. A. ^{[7
]}

Ramus, S. J. ^{[7
]}

Pharaoh, P. D. P. ^{[12
]}

Goode, E. L. ^{[2
]}

机构：

[1] Mayo Clin, Coll Med, Dept Lab Med & Pathol, Rochester, MN 55905 USA

[2] Mayo Clin, Coll Med, Dept Hlth Sci Res, Rochester, MN 55905 USA

[3] Univ S Florida, Coll Med, H Lee Moffitt Canc Ctr & Res Inst, Dept Epidemiol & Genet, Tampa, FL 33612 USA

[4] Mayo Clin, Coll Med, Dept Internal Med, Rochester, MN 55905 USA

[5] Duke Univ, Med Ctr, Dept Community & Family Med, Durham, NC 27710 USA

[6] Duke Univ, Med Ctr, Dept Obstet & Gynaecol, Durham, NC 27710 USA

[7] UCL, UCL EGA Inst Womens Hlth, Dept Gynaecol Oncol, London W1T 4JF, England

[8] Rigshosp, Danish Canc Soc, Inst Canc Epidemiol, Dept Viruses Hormones & Canc, DK-2100 Copenhagen, Denmark

[9] Univ Copenhagen, Rigshosp, Juliane Marie Ctr,CR UK, Dept Gynaecol & Obstet,Gynaecol Clin, DK-2100 Copenhagen, Denmark

[10] Stanford Univ, Sch Med, Dept Hlth Res & Policy, Stanford, CA 94305 USA

[11] Roswell Pk Canc Inst, Dept Canc Genet, Buffalo, NY 14263 USA

[12] Univ Cambridge, Canc Res United Kingdom & Strangeways Res Lab, Dept Oncol, Cambridge CB1 8RN, England

来源：

BRITISH JOURNAL OF CANCER | 2009年 / 101卷 / 08期

关键词：

ovarian cancer; cell cycle; tag SNPs genes; SINGLE-NUCLEOTIDE POLYMORPHISMS; ABL TYROSINE KINASE; DNA-REPAIR GENES; RISK; ASSOCIATION; SURVIVAL; PHOSPHORYLATION; LOCALIZATION; REPLICATION; ACTIVATION;

D O I：

10.1038/sj.bjc.6605284

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 [肿瘤学];

摘要：

BACKGROUND: Dysregulation of the cell cycle is a hallmark of many cancers including ovarian cancer, a leading cause of gynaecologic cancer mortality worldwide. METHODS: We examined single nucleotide polymorphisms (SNPs) (n = 288) from 39 cell cycle regulation genes, including cyclins, cyclin-dependent kinases (CDKs) and CDK inhibitors, in a two-stage study. White, non-Hispanic cases (n = 829) and ovarian cancer-free controls (n = 941) were genotyped using an Illumina assay. RESULTS: Eleven variants in nine genes (ABL1, CCNB2, CDKN1A, CCND3, E2F2, CDK2, E2F3, CDC2, and CDK7) were associated with risk of ovarian cancer in at least one genetic model. Seven SNPs were then assessed in four additional studies with 1689 cases and 3398 controls. Association between risk of ovarian cancer and ABL1 rs2855192 found in the original population [odds ratio, OR(BB vs AA) 2.81 (1.29-6.09), P = 0.01] was also observed in a replication population, and the association remained suggestive in the combined analysis [OR(BB vs AA) 1.59 (1.08-2.34), P = 0.02]. No other SNP associations remained suggestive in the replication populations. CONCLUSION: ABL1 has been implicated in multiple processes including cell division, cell adhesion and cellular stress response. These results suggest that characterization of the function of genetic variation in this gene in other ovarian cancer populations is warranted. British Journal of Cancer (2009) 101, 1461-1468. doi: 10.1038/sj.bjc.6605284 www.bjcancer.com Published online 8 September 2009 (C) 2009 Cancer Research UK

引用

页码：1461 / 1468

页数：8

共 46 条

[1]

*AM CANC SOC, 2008, AM CANC SOC CANC FAC

[2]

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

[3]

An intramolecular SH3-domain interaction regulates c-Abl activity [J].

Barilá, D ;

Superti-Furga, G .

NATURE GENETICS, 1998, 18 (03) :280-282

[4]

Haploview: analysis and visualization of LD and haplotype maps [J].

Barrett, JC ;

Fry, B ;

Maller, J ;

Daly, MJ .

BIOINFORMATICS, 2005, 21 (02) :263-265

[5]

Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: Results from two Australian studies and an additional validation set [J].

Beesley, Jonathan ;

Jordan, Susan J. ;

Spurdle, Amanda B. ;

Song, Honglin ;

Ramus, Susan J. ;

Kjaer, Suzanne Kruger ;

Hogdall, Estrid ;

DiCioccio, Richard A. ;

McGuire, Valerie ;

Whittemore, Alice S. ;

Gayther, Simon A. ;

Pharoah, Paul D. P. ;

Webb, Penelope M. ;

Chenevix-Trench, Georgia .

CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2007, 16 (12) :2557-2565

[6]

Berchuck A, 2004, CANCER EPIDEM BIOMAR, V13, P2141

[7]

Buller RE, 1997, CANCER GENE THER, V4, P239

[8]

Butt AJ, 2008, ADV EXP MED BIOL, V630, P189

[9]

Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium [J].

Carlson, CS ;

Eberle, MA ;

Rieder, MJ ;

Yi, Q ;

Kruglyak, L ;

Nickerson, DA .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (01) :106-120

[10]

Characterization of BRCA1 and BRCA2 mutations in a large United States sample [J].

Chen, SN ;

Iversen, ES ;

Friebel, T ;

Finkelstein, D ;

Weber, BL ;

Eisen, A ;

Peterson, LE ;

Schildkraut, JM ;

Isaacs, C ;

Peshkin, BN ;

Corio, C ;

Leondaridis, L ;

Tomlinson, G ;

Dutsm, D ;

Kerber, R ;

Amos, CI ;

Strong, LC ;

Berry, DA ;

Euthus, DM ;

Parmigiani, G .

JOURNAL OF CLINICAL ONCOLOGY, 2006, 24 (06) :863-871

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