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- Bfedfe1cd241dd35a38333d3194b4f2e0 NCIT_P378 "NCI" @default.
- Bfedfe1cd241dd35a38333d3194b4f2e0 type Axiom @default.
- Bfedfe1cd241dd35a38333d3194b4f2e0 annotatedProperty IAO_0000115 @default.
- Bfedfe1cd241dd35a38333d3194b4f2e0 annotatedSource NCIT_C63527 @default.
- Bfedfe1cd241dd35a38333d3194b4f2e0 annotatedTarget "Human BRIP1 wild-type allele is located within 17q22-q24 and is approximately 180 kb in length. This allele, which encodes fanconi anemia group J protein, is involved in the repair of double-strand DNA breaks and is critical for genomic integrity. The allele may be a target of germline cancer-inducing mutations. If the gene is mutated in persons who have Fanconi Anemia, there may be an enhanced risk for the development of breast cancer. As a result, the gene is often identified as a breast cancer susceptibility gene." @default.