Considered pathogenic in ClinVar. This is a genotype with recommended actions if clinically confirmed. In brief:
- More frequent and more intensive screening for breast and ovarian cancer is recommended starting at perhaps age 25; however, screening has not been shown to reduce breast cancer incidence.
- Prophylactic surgery (e.g. bilateral mastectomy or salpingo-oophorectomy) has been shown to substantially reduce the risk for, as well as mortality from, breast or ovarian cancer in both high-risk women and those who are BRCA mutation carriers.
- Genetic counseling and/or testing is recommended for first-degree relatives as well as the same surveillance as carriers.
The full ClinGen Actionability report about Hereditary Breast and Ovarian Cancer can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.