" /> BRCA1 Gene Mutation - CISMeF





Preferred Label : BRCA1 Gene Mutation;

NCIt synonyms : Mutation of the BRCA1 Gene; BRCA1 Mutation; Breast Cancer 1 Gene Mutation; Breast Cancer 1, Early Onset Gene Mutation; BROVCA1 Gene Mutation; Breast Cancer Type 1 Susceptibility Gene Mutation;

NCIt related terms : BRCA1;

NCIt definition : A mutation that is typically a heritable, permanent change in the nucleotide sequence of the BRCA1 gene. Single nucleotide substitutions and small deletions or insertions (1-20 bases) account for the majority of mutations in the BRCA1 gene. Approximately 75% of these alterations result in a truncated form of the breast cancer type 1 susceptibility protein. Mutations in the BRCA1 gene predispose individuals to breast and ovarian cancers.;

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09/05/2024


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