About: BRCA2 Gene Mutation     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • BRCA2 Gene Mutation
rdfs:subClassOf
Semantic_Type
  • Cell or Molecular Dysfunction
Preferred_Name
  • BRCA2 Gene Mutation
UMLS_CUI
  • C1511024
Legacy_Concept_Name
  • BRCA2_Mutation
FULL_SYN
  • BRCA2 MutationSYNCI
  • Mutation of the BRCA2 GeneSYNCI
  • BRCA2 Gene MutationPTNCI
DEFINITION
  • 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.NCI
code
  • C19636
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