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Breast cancer type 1 susceptibility protein is a protein that in humans is encoded by the BRCA1 (/ˌbrækəˈwʌn/) gene.[5] Orthologs are common in other vertebrate species, whereas invertebrate genomes may encode a more distantly related gene.[6] BRCA1 is a human tumor suppressor gene[7][8] (also known as a caretaker gene) and is responsible for repairing DNA.[9]
BRCA1 and BRCA2 are unrelated proteins,[10] but both 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][11] 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.[14]
BRCA1 combines with other tumor suppressors, DNA damage sensors and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC).[15] The BRCA1 protein associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. Thus, this protein plays a role in transcription, and DNA repair of double-strand DNA breaks[11] ubiquitination, transcriptional regulation as well as other functions.[16]
Methods to test for the likelihood of a patient with mutations in BRCA1 and BRCA2 developing cancer were covered by patents owned or controlled by Myriad Genetics.[17][18] Myriad's business model of offering the diagnostic test exclusively led from Myriad being a startup in 1994 to being a publicly traded company with 1200 employees and about $500 million in annual revenue in 2012;[19] it also led to controversy over high prices and the inability to obtain second opinions from other diagnostic labs, which in turn led to the landmark Association for Molecular Pathology v. Myriad Genetics lawsuit.[20]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000012048 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000017146 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Hamel PJ (2007-05-29). "BRCA1 and BRCA2: No Longer the Only Troublesome Genes Out There". HealthCentral. Retrieved 2010-07-02.
- ^ "BRCA1 gene tree". Ensembl.
- ^ 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.
- ^ 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.
- ^ Check W (September 2006). "BRCA: What we know now". College of American Pathologists. Retrieved 2010-08-23.
- ^ Irminger-Finger I, Ratajska M, Pilyugin M (2016). "New concepts on BARD1: Regulator of BRCA pathways and beyond". The International Journal of Biochemistry & Cell Biology. 72: 1–17. doi:10.1016/j.biocel.2015.12.008. PMID 26738429.
- ^ a b c Friedenson B (August 2007). "The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers". BMC Cancer. 7: 152–162. doi:10.1186/1471-2407-7-152. PMC 1959234. PMID 17683622.
- ^ Friedenson B (2008-06-08). "Breast cancer genes protect against some leukemias and lymphomas" (video). SciVee.
- ^ "Breast and Ovarian Cancer Genetic Screening". Palo Alto Medical Foundation. Archived from the original on 4 October 2008. Retrieved 2008-10-11.
- ^ 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.
- ^ Cite error: The named reference
pmid10783165was invoked but never defined (see the help page). - ^ Starita LM, Parvin JD (2003). "The multiple nuclear functions of BRCA1: transcription, ubiquitination and DNA repair". Current Opinion in Cell Biology. 15 (3): 345–350. doi:10.1016/S0955-0674(03)00042-5. PMID 12787778.
- ^ Cite error: The named reference
US_5747282was invoked but never defined (see the help page). - ^ Cite error: The named reference
US_5837492was invoked but never defined (see the help page). - ^ Myriad Investor Page—see "Myriad at a glance" Archived 2012-10-18 at the Wayback Machine accessed October 2012
- ^ Schwartz J (2009-05-12). "Cancer Patients Challenge the Patenting of a Gene". The New York Times. Health.
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