Aliases for BRCA2 Gene
- BRCA2 DNA Repair Associated 2 3 5
- Breast Cancer Type 2 Susceptibility Protein 3 4
- BRCA1/BRCA2-Containing Complex, Subunit 2 2 3
- Fanconi Anemia Group D1 Protein 3 4
- Breast Cancer 2, Early Onset 2 3
- FANCD1 3 4
- XRCC11 2 3
- BRCC2 2 3
- FACD 3 4
- FAD1 2 3
- FAD 2 3
- Breast And Ovarian Cancer Susceptibility Gene, Early Onset 3
External Ids for BRCA2 Gene
Previous HGNC Symbols for BRCA2 Gene
Previous GeneCards Identifiers for BRCA2 Gene
Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, May 2020]
BRCA2 mutations in the germline have become a hallmark for hereditary breast and ovarian cancers. Variants that have been demonstrated to reduce the function of the protein have been shown to increase the risk for these cancers, as well as prostate and pancreatic cancer. These findings have been the impetus for the increased popularity of genetic testing of healthy individuals to assess risk. Recent studies in ovarian cancer have also demonstrated that BRCA mutation status can predict treatment response. A number of trials assessing BRCA mutation status have shown an improved response to platinum agents, and more recently has led to the FDA-approval of PARP inhibitors for BRCA-positive ovarian cancers. These studies have resulted in the Society of Gynecologic Oncology to recommend germline BRCA testing in all patients with a diagnosis of ovarian cancer.
GeneCards Summary for BRCA2 Gene
BRCA2 (BRCA2 DNA Repair Associated) is a Protein Coding gene. Diseases associated with BRCA2 include Fanconi Anemia, Complementation Group D1 and Breast Cancer. Among its related pathways are Homologous DNA Pairing and Strand Exchange and Meiosis. Gene Ontology (GO) annotations related to this gene include protease binding and histone acetyltransferase activity.
UniProtKB/Swiss-Prot Summary for BRCA2 Gene
Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51-ssDNA filaments by blocking ATP hydrolysis. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. Binds selectively to ssDNA, and to ssDNA in tailed duplexes and replication fork structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with PALB2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity. In concert with NPM1, regulates centrosome duplication. Interacts with the TREX-2 complex (transcription and export complex 2) subunits PCID2 and SEM1, and is required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability. Silencing of BRCA2 promotes R-loop accumulation at actively transcribed genes in replicating and non-replicating cells, suggesting that BRCA2 mediates the control of R-loop associated genomic instability, independently of its known role in homologous recombination (PubMed:24896180).