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

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, Australian Ovarian Cancer Study Group, Australian Cancer Study (Ovarian Cancer) and Australian Breast Cancer Family Study (2007) 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. Cancer Epidemiology Biomarkers and Prevention, 16 12: 2557-2565. doi:10.1158/1055-9965.EPI-07-0542


Author 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
Australian Ovarian Cancer Study Group
Australian Cancer Study (Ovarian Cancer)
Australian Breast Cancer Family Study
Title 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
Journal name Cancer Epidemiology Biomarkers and Prevention   Check publisher's open access policy
ISSN 1055-9965
Publication date 2007-12
Sub-type Article (original research)
DOI 10.1158/1055-9965.EPI-07-0542
Volume 16
Issue 12
Start page 2557
End page 2565
Total pages 9
Editor J. D. Potter
Place of publication Philadelphia, PA, USA
Publisher American Association for Cancer Research
Collection year 2008
Language eng
Subject C1
321202 Epidemiology
320304 Medical Biochemistry - Nucleic Acids
730108 Cancer and related disorders
730213 Preventive medicine
Abstract Although some high-risk ovarian cancer genes have been identified, it is likely that common low penetrance alleles exist that confer some increase in ovarian cancer risk. We have genotyped nine putative functional single-nucleotide polymorphisms (SNP) in genes involved in steroid hormone synthesis (SRD5A2, CYP19A1, HSB17B1, and HSD17B4) and DNA repair (XRCC2, XRCC3, BRCA2, and RAD52) using two Australian ovarian cancer case-control studies, comprising a total of 1,466 cases and 1,821 controls of Caucasian origin. Genotype frequencies in cases and controls were compared using logistic regression. The only SNP we found to be associated with ovarian cancer risk in both of these two studies was SRD5A2 V89L (rs523349), which showed a significant trend of increasing risk per rare allele (P = 0.00002). We then genotyped another SNP in this gene (rs632148; r2 = 0.945 with V89L) in an attempt to validate this finding in an independent set of 1,479 cases and 2,452 controls from United Kingdom, United States, and Denmark. There was no association between rs632148 and ovarian cancer risk in the validation samples, and overall, there was no significant heterogeneity between the results of the five studies. Further analyses of SNPs in this gene are therefore warranted to determine whether SRD5A2 plays a role in ovarian cancer predisposition. (Cancer Epidemiol Biomarkers Prev 2007;16(12):2557–9)
Keyword ovarian cancer
SNP
hormone metabolism genes
DNA repair genes
Q-Index Code C1
Q-Index Status Confirmed Code

 
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Created: Fri, 28 Mar 2008, 16:38:30 EST