These guidelines reflect the level of evidence available regarding the clinical presentation of ovarian cancer in women with PVs in BRCA1 or BRCA2. Specifically, there is robust evidence for a high risk of ovarian cancer at an early age, with BRCA1 PV carriers having an 8–23% risk of ovarian cancer by age 50 [6–9]. The gene discussed is BRCA1; the disease is ovarian cancer.