Identification of Ovarian Cancer Susceptibility Genes Involved in Stromal-Epithelial Interactions

Abstract : The purpose of this project is to identify ovarian cancer susceptibility genes involved in stromal-epithelial cross talk. We have now genotyped 2138 samples for 1536 tagging, non-synonymous and miRNA binding site SNPs in 174 genes. Following Quality Control exclusions, the final dataset comprised 1839 samples (675 cases and 1164 controls) with genotype information for 1292 SNPs in 174 genes. We are using P(trend) values to select 25-30 SNPs for independent validation in ~2000 cases and ~4000 controls from other sites. Four of these SNPs will also be genotyped by the whole of the Ovarian Cancer Association Consortium (OCAC) (~4500 case and ~6500 controls). Currently our most significant finding is for a SNP in the podocalyxin-like (PODXL) gene for which the P(trend) = 0.0001, with a Positive Predictive Value of 33 %, and a Homozygote OR = 1.75 (95% CI 1.28-3.38).