Germline BRCA2 Gene Mutation

Preferred Label : Germline BRCA2 Gene Mutation;

NCIt synonyms : Germline BRCA2 Mutation; Germline Breast Cancer Type 2 Susceptibility Gene Mutation; Germline FANCD1 Gene Mutation; Germline XRCC11 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the BRCA2 gene that originates in the gametes.;

NCI Metathesaurus CUI : CL552401;

Details

Origin ID

C150630;

UMLS CUI

C4725886;

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
- BRCA2 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- BRCA Gene Family [NCIt concept]
- BRCA2 Gene [NCIt concept]
- DNA Repair Gene [NCIt concept]
- FA Complementation Group Gene [NCIt concept]
- X-Ray Cross Complementing Group [NCIt concept]

Keyword's position in hierarchy(ies) :

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