A novel germline BRCA1 mutation identified in a family with hereditary breast and ovarian cancer syndrome
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Pathogenic germline mutations occurring in the BRCA1 (MIM:113705) and BRCA2 (MIM: 600185), which always result in truncated protein or nonsense-mediated mRNA decay, have been identified to increase the risk of hereditary breast, ovarian, pancreatic, prostate, ... ...
