BRCA1 Gene - CISMeF

Preferred Label : BRCA1 Gene;

NCIt synonyms : Breast Cancer 1, Early Onset Gene; BRCA1, DNA Repair Associated Gene;

NCIt related terms : BRCA1;

CISMeF acronym : BRCA1;

NCIt definition : This gene plays a role in cell cycle control, regulation of transcription and the maintenance of genomic stability. It is also involved in the inhibition of mammary cell growth.;

Details

Origin ID

C17965;

UMLS CUI

C0376571;

Automatic exact mappings (from CISMeF team)
- BRCA1 [LOINC component]
- BRCA1 DNA repair associated [ORDO Gene]
- BRCA1 gene [LOINC component]
- Brca1 dna repair-associated protein [OMIM gene]
Currated CISMeF NLP mapping
- genes, BRCA1 [MeSH Descriptor]
- genes, BRCA1 [MeSH concept]
HGNC gene
- BRCA1 DNA repair associated [HGNC gene]
OMIM relation
- Brca1 dna repair-associated protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- BRCA1 [LOINC component]
- BRCA1 DNA repair associated [HGNC gene]
- BRCA1 gene [LOINC component]
- Brca1 dna repair-associated protein [OMIM gene]
- genes, BRCA1 [MeSH concept]
- genes, BRCA1 [MeSH Descriptor]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- Breast Cancer Type 1 Susceptibility Protein [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- Inactivating BRCA1 Gene Mutation [NCIt concept]
gene_involved_in_molecular_abnormality
- 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]
- BRCA1 NP_009225.1:p.E23Vfs*17 [NCIt concept]
- BRCA1 NP_009225.1:p.Q1756Pfs [NCIt concept]
- BRCA1 Protein Variant [NCIt concept]
- Deleterious BRCA1 Gene Mutation [NCIt concept]
- Germline BRCA1 Gene Mutation [NCIt concept]
- Inactivating BRCA1 Gene Mutation [NCIt concept]
- Monoallelic BRCA1 Gene Inactivation [NCIt concept]
- Somatic BRCA1 Gene Mutation [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_mapped_to_disease
- Advanced Fallopian Tube High Grade Serous Adenocarcinoma [NCIt concept]
- Advanced Ovarian High Grade Serous Adenocarcinoma [NCIt concept]
- Advanced Primary Peritoneal High Grade Serous Adenocarcinoma [NCIt concept]
- BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome [NCIt concept]
- Fallopian Tube High Grade Serous Adenocarcinoma [NCIt concept]
- Locally Advanced Unresectable Ovarian High Grade Serous Adenocarcinoma [NCIt concept]
- Metastatic Fallopian Tube High Grade Serous Adenocarcinoma [NCIt concept]
- Metastatic Ovarian High Grade Serous Adenocarcinoma [NCIt concept]
- Metastatic Primary Peritoneal High Grade Serous Adenocarcinoma [NCIt concept]
- Ovarian High Grade Serous Adenocarcinoma [NCIt concept]
- Platinum-Resistant Ovarian High Grade Serous Adenocarcinoma [NCIt concept]
- Primary Peritoneal High Grade Serous Adenocarcinoma [NCIt concept]
- Recurrent Fallopian Tube High Grade Serous Adenocarcinoma [NCIt concept]
- Recurrent Ovarian High Grade Serous Adenocarcinoma [NCIt concept]
- Recurrent Platinum-Resistant Ovarian High Grade Serous Adenocarcinoma [NCIt concept]
- Recurrent Primary Peritoneal High Grade Serous Adenocarcinoma [NCIt concept]
- Refractory Fallopian Tube High Grade Serous Adenocarcinoma [NCIt concept]
- Refractory Ovarian High Grade Serous Adenocarcinoma [NCIt concept]
- Refractory Primary Peritoneal High Grade Serous Adenocarcinoma [NCIt concept]
- Unresectable Fallopian Tube High Grade Serous Adenocarcinoma [NCIt concept]
- Unresectable Ovarian High Grade Serous Adenocarcinoma [NCIt concept]
- Unresectable Primary Peritoneal High Grade Serous Adenocarcinoma [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]
genetic_biomarker_related_to
- BRCA Driver Mutation Negative [NCIt concept]
- BRCA Gene Mutation [NCIt concept]
- BRCA Gene Mutation Negative [NCIt concept]
- BRCA Mutation Analysis [NCIt concept]
- BRCA Rearrangement [NCIt concept]
- BRCA1 Gene Mutation Negative [NCIt concept]
- BRCA1 Gene Variant Analysis Limited To Known Familial Variants in Blood or Tissue by Molecular Genetics Method [NCIt concept]
- BRCA1 Gene Variants Found [Identifier] in Blood or Tissue by Molecular Genetics Method Nominal [NCIt concept]
- BRCA1 Gene Variants Tested for in Blood or Tissue by Molecular Genetics Method Nominal [NCIt concept]
- BRCA1 Mutation Analysis [NCIt concept]
- BRCA1 NM_007294.3:c.68_69delAG [Presence] in Blood or Tissue by Molecular Genetics Method [NCIt concept]
- BRCA1 NM_007294.3c.5266dupC [Presence] in Blood or Tissue by Molecular Genetics Method [NCIt concept]
- BRCA1 Polymorphism Positive [NCIt concept]
- BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome [NCIt concept]
- BRCA1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome [NCIt concept]
- Breast Cancer Type 1 Susceptibility Protein Measurement [NCIt concept]
- Breast Cancer Type 1 Susceptibility Protein Staining Method [NCIt concept]
- Deleterious BRCA Gene Mutation [NCIt concept]

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