Terminology Service for NFDI4Health
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BRCA1 Gene Mutation

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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. [ ]

Term info

Label

BRCA1 Gene Mutation

Synonyms
  • BRCA1 Gene Mutation
  • BRCA1 Mutation
  • BROVCA1 Gene Mutation
  • Breast Cancer 1 Gene Mutation
  • Breast Cancer 1, Early Onset Gene Mutation
  • Breast Cancer Type 1 Susceptibility Gene Mutation
  • Mutation of the BRCA1 Gene
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

BRCA1 Gene Mutation

Legacy Concept Name

BRCA1_Mutation

Preferred Name

BRCA1 Gene Mutation

Semantic Type

Cell or Molecular Dysfunction

UMLS CUI

C1511022

code

C19635