Inactivating BRCA2 Gene Mutation

Preferred Label : Inactivating BRCA2 Gene Mutation;

NCIt synonyms : BRCA2 Tumor-Suppressor Gene Inactivation; Inactivating XRCC11 Gene Mutation; Inactivating BRCC2 Gene Mutation; Inactivating BRCA2 Mutation; Inactivating BROVCA2 Gene Mutation; BRCA2 Loss of Function Mutation; Inactivating Breast Cancer 2, Early Onset Gene Mutation; BRCA2 Gene Inactivation; BRCA2 Loss of Function Gene Mutation; BRCA2 Inactivation; Inactivating Breast Cancer Type 2 Susceptibility Gene Mutation; Inactivating Breast Cancer 2 Gene Mutation; Loss of Function BRCA2 Gene Mutation; Loss of Function BRCA2 Mutation; Inactivating FANCD1 Gene Mutation;

NCIt definition : A mutation in the BRCA2 gene that either leads to loss of expression or results in the translation of an inactive breast cancer type 2 susceptibility protein.;

Details

Origin ID

C36689;

UMLS CUI

C1511025;

Molecular abnormality of diseases
- Hereditary Pancreatic Carcinoma [NCIt concept]
- High Grade Pancreatic Intraepithelial Neoplasia [NCIt concept]
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_abnormality_of_gene
- BRCA2 Gene [NCIt concept]
- BRCA2 wt Allele [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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