CHEK2 and breast carcinoma: Finally, one PV was identified in the following genes: BLM, MLH1 and PMS2. Both ATM PV (p.Ser1993Argfs and p.Arg447Ter) and one of the BRIP1 mutations (c.1140 + 1G > C) were found in ovarian cancer cases; BRCA2 (p.Val220fs and p.Ala938fs), CHEK2 (c.593-1G > T and p.Thr476Met), BLM (p.Gln548Ter) and the other BRIP1 PV (c.206-2A > G) were identified in women affected by breast cancer.