BRCA Gene Mutation

Preferred Label : BRCA Gene Mutation;

NCIt synonyms : BRCA Gene Family Mutation; BRCA Family Mutation; BRCA Family Gene Mutation; BRCA Mutation;

NCIt definition : A change in the nucleotide sequence of a gene in the BRCA family.;

NCI Metathesaurus CUI : CL1662235;

Details

Origin ID

C179406;

UMLS CUI

C5555663;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
is_molecular_abnormality_of_disease
- Locally Advanced Unresectable HER2-Negative BRCA-Associated Breast Carcinoma [NCIt concept]
- Metastatic HER2-Negative BRCA-Associated Breast Carcinoma [NCIt concept]
is_not_molecular_abnormality_of_disease
- Non-BRCA Hereditary Breast Carcinoma [NCIt concept]
- PALB2 Hereditary Breast Carcinoma [NCIt concept]
molecular_abnormality_involves_gene
- BRCA Gene Family [NCIt concept]
- DNA Repair Gene [NCIt concept]
related_to_genetic_biomarker
- BRCA1 Gene [NCIt concept]
- BRCA2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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