Change in Referral Strategies for Genetic Hereditary Testing
In the past, approximately 10% of all ovarian cancers were believed to be hereditary, with the most common inherited mutations found in the BRCA1 and BRCA2 genes. However, recent research by OVCARE shows that with proper pathologic review and histotyping of ovarian cancers, close to50% of high grade serous cancers have BRCA 1/2 abnormalities: over 20% as an inherited mutation in BRCA1/2, ~10% as somatic or acquired mutations in BRCA1/2, and another ~20% of cases with methylation of the BRCA1 gene. OVCARE and others have validated these findings using genomic testing in small and large series of ovarian cancer cases.
These findings are the foundation of both the 2010 OVCARE prevention announcements and the recent recommended change in pathology reporting system by our team in 2012. Our guideline, which is currently adopted by our center and others, recommends that pathology reports with a diagnosis of high grade serous cancer of the ovary/fallopian tube/peritoneum have reflex recommendations for consideration of hereditary testing for the affected individual to search for BRCA1/2 mutations.