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Objective  To examine single nucleotide polymorphism (SNPs) in  MUC16  (CA125) and  MUC1  (CA15.3) in relation to ovarian cancer risk and survival.    Methods  We genotyped germline variants of  MUC16  (rs2547065, rs1559168, rs12984471, rs2121133) and  MUC1  (rs2070803, rs4072037, rs1045253) using samples collected from 758 ovarian cancer cases and 788 controls enrolled in the New England Case-Control Study between 2003 and 2008. We calculated age-adjusted odds ratios (OR) and 95% confidence intervals (CIs) for disease risk using unconditional and polytomous logistic regression and hazard ratios (HR) for survival using Cox proportional hazard ratios. In a subset of cases, we compared log-normalized CA125 values by genotype using generalized linear models.    Results  Cases homozygous for the variant allele of  MUC16  SNP, rs12984471, had poorer overall survival (log-rank p = 0.03) and higher CA125 levels, especially cases over age 65 (p = 0.01). For  MUC1  SNP, rs4072037, women homozygous for the G variant had a non-significantly decreased risk for serous invasive types but elevated risk for serous borderline tumors, mucinous borderline and invasive tumors, and endometrioid tumors. Women with the variant allele of  MUC16  SNP, rs2547065, especially those who were homozygous had an elevated risk for ovarian cancer; but this association was not confirmed in an independent dataset.    Conclusion  This targeted screen of seven polymorphisms of  MUC16  and  MUC1  genes failed to identify and confirm effects on ovarian cancer risk overall. However, there may be effects of  MUC16  rs12984471 on survival and  MUC1  rs4072037 on risk for histologic types of ovarian cancer other than invasive serous. Further study is warranted.

Polymorphisms of MUC16 (CA125) and MUC1 (CA15.3) in Relation to Ovarian Cancer Risk and Survival