BRCA2 Gene - CISMeF

Preferred Label : BRCA2 Gene;

NCIt synonyms : Breast Cancer 2, Early Onset Gene; BRCA2, DNA Repair Associated Gene;

NCIt related terms : BRCA2;

CISMeF acronym : BRCA2;

NCIt definition : This gene is involved in cell cycle control, DNA repair and the maintenance of genomic stability. It also plays a role in the proliferation of embryonic cells.;

Alternative definition : NCI-GLOSS: A gene on chromosome 13 that normally helps to suppress cell growth. A person who inherits an altered version of the BRCA2 gene has a higher risk of getting breast, ovarian, or prostate cancer.;

Codes from synonyms : CDR0000046742;

Details

Origin ID

C18120;

UMLS CUI

C0598034;

Automatic exact mappings (from CISMeF team)
- BRCA2 [LOINC component]
- BRCA2 DNA repair associated [ORDO Gene]
- BRCA2 gene [LOINC component]
- Brca2 dna repair-associated protein [OMIM gene]
Currated CISMeF NLP mapping
- genes, BRCA2 [MeSH Descriptor]
- genes, BRCA2 [MeSH concept]
HGNC gene
- BRCA2 DNA repair associated [HGNC gene]
OMIM relation
- Brca2 dna repair-associated protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- BRCA2 [LOINC component]
- BRCA2 DNA repair associated [HGNC gene]
- BRCA2 gene [LOINC component]
- Brca2 dna repair-associated protein [OMIM gene]
- genes, BRCA2 [MeSH Descriptor]
- genes, BRCA2 [MeSH concept]
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 2 Susceptibility Protein [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- Inactivating BRCA2 Gene Mutation [NCIt concept]
gene_involved_in_molecular_abnormality
- BRCA2 Biallelic Inactivation [NCIt concept]
- BRCA2 Gene Mutation [NCIt concept]
- BRCA2 Gene Rearrangement [NCIt concept]
- BRCA2 NM_000059.3:c.5946delT [NCIt concept]
- BRCA2 NP_000050.2:p.S1982Rfs*22 [NCIt concept]
- BRCA2 Protein Variant [NCIt concept]
- Deleterious BRCA2 Gene Mutation [NCIt concept]
- Germline BRCA2 Gene Mutation [NCIt concept]
- Inactivating BRCA2 Gene Mutation [NCIt concept]
- Monoallelic BRCA2 Gene Inactivation [NCIt concept]
- Somatic BRCA2 Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- BRCA-Associated Malignant Neoplasm [NCIt concept]
- BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome [NCIt concept]
- Fanconi Anemia, Complementation Group D1 [NCIt concept]
gene_mapped_to_disease
- Advanced Fallopian Tube High Grade Serous Adenocarcinoma [NCIt concept]
- Advanced Ovarian High Grade Serous Adenocarcinoma [NCIt concept]
- Advanced Pancreatic Ductal Adenocarcinoma [NCIt concept]
- BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome [NCIt concept]
- Borderline Resectable Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Early Stage Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Fallopian Tube High Grade Serous Adenocarcinoma [NCIt concept]
- Fanconi Anemia, Complementation Group D1 [NCIt concept]
- High Grade Pancreatic Intraepithelial Neoplasia [NCIt concept]
- Localized Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Locally Advanced Pancreatic Ductal 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 Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Oligometastatic Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Ovarian High Grade Serous Adenocarcinoma [NCIt concept]
- Pancreatic Colloid Carcinoma [NCIt concept]
- Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Pancreatic Foamy Gland Adenocarcinoma [NCIt concept]
- Pancreatic Hepatoid Adenocarcinoma [NCIt concept]
- Pancreatic Medullary Carcinoma [NCIt concept]
- Pancreatic Moderately Differentiated Ductal Adenocarcinoma [NCIt concept]
- Pancreatic Poorly Cohesive Adenocarcinoma [NCIt concept]
- Pancreatic Poorly Differentiated Ductal Adenocarcinoma [NCIt concept]
- Pancreatic Signet Ring Cell Carcinoma [NCIt concept]
- Pancreatic Undifferentiated Carcinoma [NCIt concept]
- Pancreatic Undifferentiated Carcinoma with Osteoclast-Like Giant Cells [NCIt concept]
- Pancreatic Undifferentiated Carcinoma with Rhabdoid Cells [NCIt concept]
- Pancreatic Well Differentiated Ductal Adenocarcinoma [NCIt concept]
- Platinum-Resistant Ovarian High Grade Serous Adenocarcinoma [NCIt concept]
- Recurrent Fallopian Tube High Grade Serous Adenocarcinoma [NCIt concept]
- Recurrent Ovarian High Grade Serous Adenocarcinoma [NCIt concept]
- Recurrent Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Recurrent Platinum-Resistant Ovarian High Grade Serous Adenocarcinoma [NCIt concept]
- Refractory Fallopian Tube High Grade Serous Adenocarcinoma [NCIt concept]
- Refractory Ovarian High Grade Serous Adenocarcinoma [NCIt concept]
- Refractory Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Resectable Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Unresectable Fallopian Tube High Grade Serous Adenocarcinoma [NCIt concept]
- Unresectable Ovarian High Grade Serous Adenocarcinoma [NCIt concept]
- Unresectable Pancreatic Ductal Adenocarcinoma [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation [NCIt concept]
- DNA Repair [NCIt concept]
- Double Strand Break Repair [NCIt concept]
- Homologous Recombination [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Tumor Suppression [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]
- BRCA1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome [NCIt concept]
- BRCA2 Gene Mutation Negative [NCIt concept]
- BRCA2 Gene Variant Analysis Limited To Known Familial Variants in Blood or Tissue by Molecular Genetics Method [NCIt concept]
- BRCA2 Gene Variants Found [Identifier] in Blood or Tissue by Molecular Genetics Method Nominal [NCIt concept]
- BRCA2 Gene Variants Tested for in Blood or Tissue by Molecular Genetics Method Nominal [NCIt concept]
- BRCA2 Mutation Analysis [NCIt concept]
- BRCA2 NM_000059.3:c.5946delT [Presence] in Blood or Tissue by Molecular Genetics Method [NCIt concept]
- BRCA2 Polymorphism Positive [NCIt concept]
- BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome [NCIt concept]
- Breast Cancer Type 2 Susceptibility Protein Staining Method [NCIt concept]
- Deleterious BRCA Gene Mutation [NCIt concept]
- Fanconi Anemia [NCIt concept]
- Fanconi Anemia, Complementation Group D1 [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients