BRCA1 Mutation
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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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