‘PreOvar’ Ovarian Cancer Risk Assessment Test
The Society of Gynecologic Oncology (SGO) recognizes the importance of identifying genetic factors that increase ovarian cancer risk. Mutations in the BRCA1 and BRCA2 genes are relatively rare, but clearly have been shown in multiple studies to dramatically increase ovarian cancer risk. Mutation carriers are advised to undergo close surveillance during the childbearing years and ultimately to have a prophylactic bilateral salpingo-oophorectomy.
With the emergence of powerful genomic technologies, knowledge of human genetic variation has been expanding rapidly. Associations have been reported between a number of genetic variants and ovarian cancer risk. Many of these variants are much more common than BRCA1/2 mutations, although they purportedly increase ovarian cancer risk to a much lesser degree. However, most genetic variants that have initially been reported to affect ovarian cancer risk have not been validated in subsequent studies. This likely reflects the potential for false-discovery that is inherent in genomic research that studies thousands of genes.
Recently, MiraDx began marketing the PreOvar test, which examines a genetic variant in the KRAS gene that disrupts a let-7 microRNA binding site. This genetic variant was reported in one publication to increase ovarian cancer risk, particularly in the setting of a positive family history. Although the SGO recognizes the benefit and potential utility of ovarian cancer risk assessment tests, we believe that the clinical value of the PreOvar test remains unknown until further validation studies are performed. Insufficient data exist presently to recommend this test as a tool for better defining ovarian cancer risk.