BRCA1 and ovarian carcinoma: Extending our search for pathogenic variants, risk factor variants and deleterious substitutions to all genes, we identified patients with truncating loss-of-function mutations in BRCA1 (E23fs; ClinVar ID: 17662; PD26992b) and BRCA2 (L122fs; ClinVar ID: 51504; PD25663b) (Table 2), both of which are associated with predisposition to breast and ovarian cancer.