BRCA1 Mutation

Cancer Terms -> Molecular Abnormality -> Molecular Genetic Abnormality -> Gene Abnormality -> BRCA1 Mutation

BRCA1 Mutation 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.

BRCA1 Mutation Synonyms

BRCA1 Mutation, Mutation of the BRCA1 Gene

Terms in BRCA1 Mutation category

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