BRCA1 wt Allele

Preferred Label : BRCA1 wt Allele;

NCIt synonyms : Breast Cancer 1, Early Onset wt Allele; PSCP; Breast Cancer 1 Gene; BRCAI; RNF53; Breast Cancer Type 1 Susceptibility Gene; PNCA4; PPP1R53; Hereditary Breast Cancer 1 Gene; IRIS; BROVCA1; FANCS; BRCC1; BRCA1, DNA Repair Associated wt Allele;

NCIt related terms : BRCA1;

NCIt definition : Human BRCA1 wild-type allele is located within 17q21 and is approximately 81 kb in length. This allele, which encodes breast cancer type 1 susceptibility protein, plays a role in transcriptional regulation, facilitation of the cellular response to DNA damage, homologous recombination, and cell cycle arrest following radiation exposure. Certain allelic variants of the BRCA1 gene are associated with breast carcinomas and breast/ovarian cancer syndrome.;

Alternative definition : NCI-GLOSS: A gene on chromosome 17 that normally helps to suppress cell growth. A person who inherits certain mutations (changes) in a BRCA1 gene has a higher risk of getting breast, ovarian, prostate, and other types of cancer.;

NCIt note : The BRCA1 gene is a tumor suppressor gene. It has been shown to be involved in transcription-coupled repair of oxidative DNA damage.;

GenBank Accession Number : NM_007294;

Codes from synonyms : CDR0000046047;

Details

Origin ID

C52060;

UMLS CUI

C1704743;

OMIM relation
- Brca1 dna repair-associated protein [OMIM gene]
See also inter- (CISMeF)
- Breast-ovarian cancer, familial, susceptibility to, 1 [OMIM Phenotype]
- Hereditary breast cancer [ORDO Disease]
Semantic type(s)
- Gene or Genome [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_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 17: 38530934-38449844 [NCIt concept]
gene_in_chromosomal_location
- 17q21 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- BRCA-Associated Malignant Neoplasm [NCIt concept]
- BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome [NCIt concept]
gene_is_element_in_pathway
- ATM Signaling Pathway [NCIt concept]
- BARD1 Pathway [NCIt concept]
- Cancer Susceptibility Pathway [NCIt concept]
- Estrogen Receptor Regulation by CARM1 Pathway [NCIt concept]
- G2/M Checkpoint Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Checkpoint [NCIt concept]
- Chromatin Remodeling [NCIt concept]
- DNA Binding [NCIt concept]
- DNA Recombination Process [NCIt concept]
- DNA Repair [NCIt concept]
- Double Strand Break Repair [NCIt concept]
- Homologous Recombination [NCIt concept]
- Recombination Repair [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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