genes, BRCA1 - CISMeF

Preferred Label : genes, BRCA1;

MeSH definition : A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.;

MeSH synonym : brca1 gene; brca1 genes; gene, brca1;

CISMeF synonym : BRCA1;

MeSH annotation : BRCA stands for BReast CAncer;

Details

Origin ID

D019398;

UMLS CUI

C0376571;

Allowable qualifiers
- drug effects [MeSH Qualifier]
- physiology [MeSH Qualifier]
- radiation effects [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- BRCA1 [LOINC component]
- BRCA1 DNA repair associated [ORDO Gene]
- BRCA1 gene [LOINC component]
- BRCA1 wt Allele [NCIt concept]
- Brca1 dna repair-associated protein [OMIM gene]
- Breast Cancer Type 1 Susceptibility Protein Measurement [NCIt concept]
Currated CISMeF NLP mapping
- BRCA1 Gene [NCIt concept]
- Breast Cancer Type 1 Susceptibility Protein [NCIt concept]
Record concept(s)
- genes, BRCA1 [MeSH concept]
See also
- BRCA1 protein [MeSH Descriptor]
See also (suggested by CISMeF)
- breast neoplasms [MeSH Descriptor]
- ovarian neoplasms [MeSH Descriptor]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- BRCA1 [LOINC component]
- BRCA1 DNA repair associated [HGNC gene]
- BRCA1 Gene [NCIt concept]
- BRCA1 gene [LOINC component]
- Brca1 dna repair-associated protein [OMIM gene]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients