BRCA2

BRCA2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesBRCA2, BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD, FANCD1, GLM3, PNCA2, XRCC11, breast cancer 2, DNA repair associated, breast cancer 2, early onset, BRCA2 DNA repair associated, Genes
External IDsOMIM: 600185; MGI: 109337; HomoloGene: 41; GeneCards: BRCA2; OMA:BRCA2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000059

NM_001081001
NM_009765

RefSeq (protein)

NP_000050

NP_001074470
NP_033895

Location (UCSC)Chr 13: 32.32 – 32.4 MbChr 5: 150.45 – 150.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

BRCA2 and BRCA2 (/ˌbrækəˈt/[5]) are human genes and their protein products, respectively. The official symbol (BRCA2, italic for the gene, nonitalic for the protein) and the official name (originally breast cancer 2; currently BRCA2, DNA repair associated) are maintained by the HUGO Gene Nomenclature Committee. One alternative symbol, FANCD1, recognizes its association with the FANC protein complex. Orthologs, styled Brca2 and Brca2, are common in other vertebrate species.[6][7] BRCA2 is a human tumor suppressor gene[8][9] (specifically, a caretaker gene), found in all humans; its protein, also called by the synonym breast cancer type 2 susceptibility protein, is responsible for repairing DNA.[10]

BRCA2 and BRCA1 are normally expressed in the cells of breast and other tissue, where they help repair damaged DNA or destroy cells if DNA cannot be repaired. They are involved in the repair of chromosomal damage with an important role in the error-free repair of DNA double strand breaks.[11][12] If BRCA1 or BRCA2 itself is damaged by a BRCA mutation, damaged DNA is not repaired properly, and this increases the risk for breast cancer.[13][14] BRCA1 and BRCA2 have been described as "breast cancer susceptibility genes" and "breast cancer susceptibility proteins". The predominant allele has a normal tumor suppressive function whereas high penetrance mutations in these genes cause a loss of tumor suppressive function, which correlates with an increased risk of breast cancer.[15]

The BRCA2 gene is located on the long (q) arm of chromosome 13 at position 12.3 (13q12.3).[16] The human reference BRCA2 gene contains 27 exons, and the cDNA has 10,254 base pairs[17] coding for a protein of 3418 amino acids.[18][19]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000139618Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041147Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Hamel PJ (2007-05-29). "BRCA1 and BRCA2: No Longer the Only Troublesome Genes Out There". HealthCentral. Retrieved 2010-07-02.
  6. ^ "OrthoMaM phylogenetic marker: BRCA2 coding sequence". Archived from the original on 2016-03-03. Retrieved 2010-02-19.
  7. ^ "BRCA2 gene tree". Ensembl. May 2021
  8. ^ Duncan JA, Reeves JR, Cooke TG (October 1998). "BRCA1 and BRCA2 proteins: roles in health and disease". Molecular Pathology. 51 (5): 237–47. doi:10.1136/mp.51.5.237. PMC 395646. PMID 10193517.
  9. ^ Yoshida K, Miki Y (November 2004). "Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage". Cancer Science. 95 (11): 866–71. doi:10.1111/j.1349-7006.2004.tb02195.x. PMC 11159131. PMID 15546503. S2CID 24297965.
  10. ^ Check W (2006-09-01). "BRCA: What we know now". College of American Pathologists. Retrieved 2010-08-23.
  11. ^ Friedenson B (August 2007). "The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers". BMC Cancer. 7 (1): 152–162. doi:10.1186/1471-2407-7-152. PMC 1959234. PMID 17683622.
  12. ^ Friedenson B (2008-06-08). "Breast cancer genes protect against some leukemias and lymphomas" (video). SciVee.
  13. ^ "Breast and Ovarian Cancer Genetic Screening". Palo Alto Medical Foundation. Archived from the original on 4 October 2008. Retrieved 2008-10-11.
  14. ^ Friedenson B (2007). "The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers". BMC Cancer. 7 (1): 152. doi:10.1186/1471-2407-7-152. PMC 1959234. PMID 17683622.
  15. ^ O'Donovan PJ, Livingston DM (April 2010). "BRCA1 and BRCA2: breast/ovarian cancer susceptibility gene products and participants in DNA double-strand break repair". Carcinogenesis. 31 (6): 961–7. doi:10.1093/carcin/bgq069. PMID 20400477.
  16. ^ Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, et al. (September 1994). "Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13". Science. 265 (5181): 2088–90. Bibcode:1994Sci...265.2088W. doi:10.1126/science.8091231. PMID 8091231.
  17. ^ "BRCA2 breast cancer 2, early onset [Homo sapiens]". EntrezGene. National Center for Biotechnology Information, U.S. National Library of Medicine.
  18. ^ "Breast cancer type 2 susceptibility protein - Homo sapiens (Human)". P51587. UniProt.
  19. ^ Williams-Jones B (2002). Genetic testing for sale: Implications of commercial brca testing in Canada (Ph.D.). The University of British Columbia.