About: BRCA1 Gene Mutation     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • BRCA1 Gene Mutation
rdfs:subClassOf
Semantic_Type
  • Cell or Molecular Dysfunction
Preferred_Name
  • BRCA1 Gene Mutation
UMLS_CUI
  • C1511022
Legacy_Concept_Name
  • BRCA1_Mutation
FULL_SYN
  • BRCA1 MutationSYNCI
  • Mutation of the BRCA1 GeneSYNCI
  • BRCA1 Gene MutationPTNCI
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.NCI
code
  • C19635
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