title: Comprehensive evaluation of ESR2 variation and ovarian cancer risk.
abstract: Studies indicate that estrogen receptor beta, 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 > or =5% were observed in White subjects and five haplotype tagging SNPs (htSNP) were selected to capture the locus diversity with a minimum R(h)(2) 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.
authors.affiliation: USC/Norris Comprehensive Cancer Center and Department of Preventive Medicine, Keck School of Medicine of the University of Southern California, Los Angeles, CA 90089, USA. cpearce@usc.edu
authors.forename: Celeste
authors.initials: C
authors.lastname: Leigh Pearce
authors.forename: Aimee M
authors.initials: AM
authors.lastname: Near
authors.forename: Johannah L
authors.initials: JL
authors.lastname: Butler
authors.forename: David
authors.initials: D
authors.lastname: Van Den Berg
authors.forename: Philip
authors.initials: P
authors.lastname: Bretsky
authors.forename: David V
authors.initials: DV
authors.lastname: Conti
authors.forename: Daniel O
authors.initials: DO
authors.lastname: Stram
authors.forename: Malcolm C
authors.initials: MC
authors.lastname: Pike
authors.forename: Joel N
authors.initials: JN
authors.lastname: Hirschhorn
authors.forename: Anna H
authors.initials: AH
authors.lastname: Wu
mesh_terms: D000328:Adult; D000368:Aged; D002883:Chromosomes, Human, Pair 14; D047629:Estrogen Receptor beta / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D016015:Logistic Models; D015141:Los Angeles; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D044465:White People / Q000706:statistics & numerical data
chemical_list: D047629:Estrogen Receptor beta