Genetic Modifiers of Ovarian Cancer

Individuals with germline mutations in BRCA1 have an elevated but incomplete risk of developing ovarian cancer suggesting the presence of genetic modifiers of ovarian cancer in this population. A genome wide association study (GWAS) for ovarian cancer in BRCA1 mutation carriers was initiated in an effort to identify common genetic variants that modify ovarian cancer risk. The discovery phase of the study has been completed. A replication phase of the 6,000 most significantly associated variants is underway. In a separate study, variants in a 19p13.1 locus have been identified as modifiers of both breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers.