Terminology Service for NFDI4Health
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BRCA2 Gene Mutation

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A mutation that is typically a heritable, permanent change in the nucleotide sequence of the BRCA2 gene. Single nucleotide substitutions and small deletions or insertions (1-20 bases) account for the majority of mutations in the BRCA2 gene. Most of these alterations result in a truncated form of the breast cancer type 2 susceptibility protein. Mutations in the BRCA2 gene predispose males to breast cancer. [ ]

Term info

Label

BRCA2 Gene Mutation

Synonyms
  • BRCA2 Gene Mutation
  • BRCA2 Mutation
  • BRCC2 Gene Mutation
  • BROVCA2 Gene Mutation
  • Breast Cancer 2 Gene Mutation
  • Breast Cancer 2, Early Onset Gene Mutation
  • Breast Cancer Type 2 Susceptibility Gene Mutation
  • FANCD1 Gene Mutation
  • Mutation of the BRCA2 Gene
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

BRCA2 Gene Mutation

Legacy Concept Name

BRCA2_Mutation

Preferred Name

BRCA2 Gene Mutation

Semantic Type

Cell or Molecular Dysfunction

UMLS CUI

C1511024

code

C19636