Editing BRCA2 (section)

{{short description|Gene known for its role in breast cancer}}
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{{Infobox_gene}}
'''''BRCA2''''' and '''BRCA2''' ({{IPAc-en|ˌ|b|r|æ|k|ə|ˈ|t|uː}}<ref>{{cite web | url = http://www.healthcentral.com/breast-cancer/c/78/9925/brca1-brca2 | author = Hamel PJ | title = BRCA1 and BRCA2: No Longer the Only Troublesome Genes Out There | publisher = HealthCentral | date = 2007-05-29 | access-date = 2010-07-02}}</ref>) are human [[gene]]s 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 [[gene nomenclature|maintained]] by the [[HUGO Gene Nomenclature Committee]]. One alternative symbol, [[FANCD1]], recognizes its association with the [[FANC proteins|FANC protein]] complex. [[Ortholog]]s, styled ''Brca2'' and Brca2, are common in other [[vertebrate]] species.<ref name="OrthoMaM">{{cite web | title = OrthoMaM phylogenetic marker: BRCA2 coding sequence | url = http://www.orthomam.univ-montp2.fr/orthomam/data/cds/detailMarkers/ENSG00000139618_BRCA2.xml | access-date = 2010-02-19 | archive-url = https://web.archive.org/web/20160303172228/http://www.orthomam.univ-montp2.fr/orthomam/data/cds/detailMarkers/ENSG00000139618_BRCA2.xml | archive-date = 2016-03-03 | url-status = dead }}</ref><ref name="Ensembl">{{cite web |title=BRCA2 gene tree |url=http://www.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000003602 |publisher=Ensembl}} May 2021</ref> ''BRCA2'' is a human [[tumor suppressor gene]]<ref name="pmid10193517">{{cite journal | vauthors = Duncan JA, Reeves JR, Cooke TG | title = BRCA1 and BRCA2 proteins: roles in health and disease | journal = Molecular Pathology | volume = 51 | issue = 5 | pages = 237–47 | date = October 1998 | pmid = 10193517 | pmc = 395646 | doi = 10.1136/mp.51.5.237 }}</ref><ref name="pmid15546503">{{cite journal | vauthors = Yoshida K, Miki Y | title = Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage | journal = Cancer Science | volume = 95 | issue = 11 | pages = 866–71 | date = November 2004 | pmid = 15546503 | doi = 10.1111/j.1349-7006.2004.tb02195.x | s2cid = 24297965 | doi-access = free | pmc = 11159131 }}</ref> (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.<ref name="CAP">{{cite web | url = http://www.cap.org/apps/cap.portal?_nfpb=true&cntvwrPtlt_actionOverride=%2Fportlets%2FcontentViewer%2Fshow&_windowLabel=cntvwrPtlt&cntvwrPtlt{actionForm.contentReference}=cap_today%2Ffeature_stories%2F0906BRCA.html&_state=maximized&_pageLabel=cntvwr | title = BRCA: What we know now | author = Check W | publisher = College of American Pathologists | date = 2006-09-01 | access-date = 2010-08-23}}</ref>

''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 [[chromosome|chromosomal]] damage with an important role in the error-free [[DNA repair|repair of DNA]] double strand breaks.<ref name= "Friedenson2007">{{cite journal | vauthors = Friedenson B | title = The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers. | journal = BMC Cancer | volume = 7 | pages = 152–162 | date = August 2007 | pmid = 17683622 | pmc = 1959234 | doi = 10.1186/1471-2407-7-152 | issue=1 | doi-access = free }}</ref><ref name="scivee.tv">{{cite web | url = http://www.scivee.tv/node/6090 | title = Breast cancer genes protect against some leukemias and lymphomas | author = Friedenson B | date = 2008-06-08  | format = video | publisher = SciVee }}</ref> If ''BRCA1'' or ''BRCA2'' itself is damaged by a [[BRCA mutation|''BRCA'' mutation]], damaged DNA is not repaired properly, and this increases the risk for [[breast cancer]].<ref name="urlBreast and Ovarian Cancer Genetic Screening">{{cite web | url = http://www.pamf.org/health/guidelines/geneticscreening.html | title = Breast and Ovarian Cancer Genetic Screening | publisher = Palo Alto Medical Foundation | access-date = 2008-10-11| archive-url= https://web.archive.org/web/20081004080235/http://www.pamf.org/health/guidelines/geneticscreening.html| archive-date= 4 October 2008 | url-status= live}}</ref><ref name="pmid17683622">{{cite journal | vauthors = Friedenson B | title = The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers | journal = BMC Cancer | volume = 7 | page = 152 | year = 2007 | pmid = 17683622 | pmc = 1959234 | doi = 10.1186/1471-2407-7-152 | issue=1 | doi-access = free }}</ref> ''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.<ref name="O'Donovan_2010">{{cite journal | vauthors = O'Donovan PJ, Livingston DM | title = BRCA1 and BRCA2: breast/ovarian cancer susceptibility gene products and participants in DNA double-strand break repair | journal = Carcinogenesis | volume = 31 | issue = 6 | pages = 961–7 | date = April 2010 | pmid = 20400477 | doi = 10.1093/carcin/bgq069 | doi-access = free }}</ref>

The ''BRCA2'' gene is located on the long (q) arm of [[chromosome 13 (human)|chromosome 13]] at position 12.3 (13q12.3).<ref name="pmid8091231">{{cite journal | vauthors = Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D | title = Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13 | journal = Science | volume = 265 | issue = 5181 | pages = 2088–90 | date = September 1994 | pmid = 8091231 | doi = 10.1126/science.8091231 | bibcode = 1994Sci...265.2088W }}</ref> The human reference ''BRCA2'' gene contains 27 exons, and the cDNA has  10,254 base pairs<ref name="EntrezGene">{{cite web | url = https://www.ncbi.nlm.nih.gov/gene/675 | title = BRCA2 breast cancer 2, early onset [Homo sapiens] | work = EntrezGene | publisher = National Center for Biotechnology Information, U.S. National Library of Medicine }}</ref> coding for a protein of 3418 amino acids.<ref name="UniProt_P51587">{{cite web | url = https://www.uniprot.org/uniprot/P51587 | title = Breast cancer type 2 susceptibility protein - Homo sapiens (Human) | work = P51587 | publisher = UniProt }}</ref><ref name = " Williams-Jones_2002">{{cite thesis | type = Ph.D. | author = Williams-Jones B | title = Genetic testing for sale: Implications of commercial brca testing in Canada | publisher = The University of British Columbia | year = 2002 }}</ref>