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Comprehensive Evaluation of ESR2 Variation and Ovarian Cancer Risk

¹ USC/Norris Comprehensive Cancer Center and Department of Preventive Medicine, Keck School of Medicine of the University of Southern California; ² Department of Urology, Norris Comprehensive Cancer Center, University of Southern California; ³ Cedars Sinai Medical Center; ⁴ Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, California; ⁵ Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, Michigan; ⁶ Program in Genomics and Divisions of Genetics and Endocrinology, Children's Hospital; ⁷ Departments of Genetics and Pediatrics, Harvard Medical School, Boston, Massachusetts; and ⁸ Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts

Requests for reprints: Celeste Leigh Pearce, USC Norris Comprehensive Cancer Center, Room 4415A, 1441 Eastlake Avenue, Los Angeles, CA 90089. E-mail: cpearce{at}usc.edu

Studies indicate that estrogen receptor β, encoded by the ESR2 gene on chromosome 14q, may play a role in ovarian carcinogenesis. Using the genetic structure data generated by the Breast and Prostate Cohort Consortium (BPC3), we have comprehensively characterized the role of haplotype diversity in ESR2 and risk of ovarian cancer. Five haplotypes with a frequency of 5% were observed in White subjects and five haplotype tagging SNPs (htSNP) were selected to capture the locus diversity with a minimum R_h² of 0.81. The htSNPs were genotyped in 574 White controls, 417 White invasive ovarian cancer cases, and 123 White borderline ovarian cancer cases from case-control studies carried out in Los Angeles County from 1994 through 2004. No statistically significant association was observed between the five htSNPs and related haplotypes and risk of ovarian cancer overall. Haplotype D was associated with a nonstatistically significant increased risk of invasive ovarian cancer overall (odds ratio, 1.38; 95% confidence interval, 0.93-2.02; P = 0.11) relative to the most common haplotype and a statistically significant increased risk of invasive clear cell ovarian cancer (odds ratio, 3.88; 95% confidence interval, 1.28-11.73; P = 0.016). Haplotype D was also reported by the BPC3 to be associated with increased risk of breast cancer. This haplotype warrants further investigation to rule out any effect with invasive ovarian cancer risk. (Cancer Epidemiol Biomarkers Prev 2008;17(2):393–6)