BRCA Gene Family

Preferred Label : BRCA Gene Family;

NCIt synonyms : BRCA; BRCA Gene;

NCIt related terms : BRCA Family Gene;

NCIt definition : A small family of genes involved in DNA repair and cell cycle regulation. Mutations in these genes are usually hereditary and are associated with an elevated risk for melanoma and various neoplasms including breast, ovarian, prostate and pancreatic cancers.;

NCI Metathesaurus CUI : CL1913064;

Details

Origin ID

C192893;

UMLS CUI

C0596223;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- BRCA Gene Mutation [NCIt concept]
- BRCA Rearrangement [NCIt concept]
- BRCA Variant of Unknown Significance [NCIt concept]
- BRCA1 Biallelic Inactivation [NCIt concept]
- BRCA1 Gene Mutation [NCIt concept]
- BRCA1 Gene Rearrangement [NCIt concept]
- BRCA1 NM_007294.3:c.5265_5266insC [NCIt concept]
- BRCA1 NM_007294.3:c.68_69delAG [NCIt concept]
- BRCA2 Biallelic Inactivation [NCIt concept]
- BRCA2 Gene Mutation [NCIt concept]
- BRCA2 Gene Rearrangement [NCIt concept]
- BRCA2 NM_000059.3:c.5946delT [NCIt concept]
- Deleterious BRCA Gene Mutation [NCIt concept]
- Deleterious BRCA1 Gene Mutation [NCIt concept]
- Deleterious BRCA2 Gene Mutation [NCIt concept]
- Germline BRCA1 Gene Mutation [NCIt concept]
- Germline BRCA2 Gene Mutation [NCIt concept]
- Inactivating BRCA1 Gene Mutation [NCIt concept]
- Inactivating BRCA2 Gene Mutation [NCIt concept]
- Monoallelic BRCA1 Gene Inactivation [NCIt concept]
- Monoallelic BRCA2 Gene Inactivation [NCIt concept]
- Somatic BRCA1 Gene Mutation [NCIt concept]
- Somatic BRCA2 Gene Mutation [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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