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Background  While  BRCA  mutation carriers possess a 20-40% lifetime risk of developing ovarian cancer, knowledge about genetic modifying factors influencing the phenotypic expression remains obscure. We explored the distribution of the  MDM2  polymorphisms SNP309T>G and the recently discovered SNP285G>C in Norwegian patients with  BRCA  related ovarian cancer.    Methods  221  BRCA  related ovarian cancer cases ( BRCA1; n  = 161 and  BRCA2 ;  n  = 60) were tested for the  MDM2  polymorphisms. Results were compared to healthy controls ( n  = 2,465).    Results  The SNP309G allele was associated with elevated OR for ovarian cancer in  BRCA1  mutation carriers (SNP309TG: OR 1.53; CI 1.07-2.19;  p  = 0.020; SNP309GG: OR 1.92; CI 1.19-3.10;  p  = 0.009; SNP309TG+GG combined: OR 1.61; CI 1.15-2.27;  p  = 0.005). In contrast, the SNP285C allele reduced risk of  BRCA1  related ovarian cancer in carriers of the SNP309G allele (OR 0.50; CI 0.24-1.04;  p  = 0.057). Censoring individuals carrying the SNP285C/309G haplotype from the analysis elevated the OR related to the SNP309G allele (OR 1.73; CI 1.23-2.45;  p  = 0.002). The mean age at disease onset was 3.1 years earlier in carriers of SNP309TG+GG as compared to carriers of SNP309TT ( p  = 0.068). No such associations were found in  BRCA2  related ovarian cancer.    Conclusions  Our results indicate the SNP309G allele to increase and the SNP285C allele to reduce the risk of  BRCA1  related ovarian cancer. If confirmed in independent studies, this finding may have implications to counseling and decision-making regarding risk reducing measures in  BRCA1  mutation carriers.

Effect of the MDM2 promoter polymorphisms SNP309T>G and SNP285G>C on the risk of ovarian cancer in BRCA1 mutation carriers