Germline BRCA1 Gene Mutation

Preferred Label : Germline BRCA1 Gene Mutation;

NCIt synonyms : Germline BRCA1 Mutation; Germline BROVCA1 Gene Mutation; Germline Breast Cancer Type 1 Susceptibility Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the BRCA1 gene that originates in the gametes.;

NCI Metathesaurus CUI : CL552398;

Details

Origin ID

C150629;

UMLS CUI

C4725885;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- BRCA1 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- BRCA Gene Family [NCIt concept]
- BRCA1 Gene [NCIt concept]
- DNA Repair Gene [NCIt concept]
- FA Complementation Group Gene [NCIt concept]
- Homologous Recombination Repair Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients