BRCA1, breast cancer 1, early onset, BRCAI, BRCC1, BROVCA1, IRIS, PNCA4, PPP1R53, PSCP, RNF53, FANCS, breast cancer 1, DNA repair associated, BRCA1 DNA repair associated, Genes
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][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]
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).[16] 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[14] ubiquitination, transcriptional regulation as well as other functions.[17]
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.[18][19] 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;[20] 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.[21]
^ abcGRCh38: Ensembl release 89: ENSG00000012048 – Ensembl, May 2017
^ abcGRCm38: 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. 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.
^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.
^ abFriedenson B (2007). "The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers". BMC Cancer. 7: 152. doi:10.1186/1471-2407-7-152. PMC 1959234. PMID 17683622.
^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 pmid10783165 was 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_5747282 was invoked but never defined (see the help page).
^Cite error: The named reference US_5837492 was 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.
1 susceptibility protein is a protein that in humans is encoded by the BRCA1 (/ˌbrækəˈwʌn/) gene. Orthologs are common in other vertebrate species, whereas...
A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumour suppressor genes. Hundreds of different types of mutations in these...
via homologous recombination. The well-known cancer susceptibility genes BRCA1 and BRCA2 are also examples of FA genes (FANCS and FANCD1 respectively)...
caused by a combination of genetic, environmental and lifestyle factors. BRCA1 is an example of a genotype with reduced penetrance. By age 70, the mutation...
is a whole-genome sequencing (WGS)-based classifier designed to predict BRCA1 and BRCA2 deficiency based on six mutational signatures. Additionally, the...
The genes BRCA1 and BRCA2 show loss of heterozygosity in samplings of tumors from patients who have germline mutations.[citation needed]BRCA1/2 are genes...
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. BRCA1 and...
Cofactor of BRCA1, also known as COBRA1, is a human gene that encodes NELF-B. NELF-B is a subunit of negative elongation factor (NELF), which also includes...
genetic factors. Women with an inherited mutation in the DNA repair gene BRCA1 undergo menopause prematurely, suggesting that naturally occurring DNA damages...
are related to inherited genetic risk; women with mutations in the genes BRCA1 or BRCA2 have about a 50% chance of developing the disease. Some family...
A (April 2003). "Negative regulation of BRCA1 gene expression by HMGA1 proteins accounts for the reduced BRCA1 protein levels in sporadic breast carcinoma"...
linkage analysis of a gene associated with increased risk for breast cancer (BRCA1) to the long arm of chromosome 17. To further locate the actual gene, Dr...
Fanconi anemia group J protein is a protein that in humans is encoded by the BRCA1-interacting protein 1 (BRIP1) gene. The protein encoded by this gene is...
associated with cancer, such as p53, BRCA1 and BRCA2, occur in mechanisms to correct errors in DNA. The inherited mutation in BRCA1 or BRCA2 genes can interfere...
good copy of both BRCA1 and BRCA2. Many breast cancers have defects in the BRCA1/BRCA2 HR repair pathway due to mutations in either BRCA1 or BRCA2, or other...
BRCA1-associated RING domain protein 1 is a protein that in humans is encoded by the BARD1 gene. The human BARD1 protein is 777 amino acids long and contains...
are not known, a link with certain variants of BRCA1/2 has been described. Furthermore, women with BRCA1/2 mutation have a 5% risk of developing primary...
repression of BRCA1 may occur more frequently by over-transcribed microRNA-182 than by hypermethylation of the BRCA1 promoter (see Low expression of BRCA1 in breast...
repaired. BRCA1 is involved in the repair of chromosomal damage with an important role in the error-free repair of DNA double-strand breaks. BRCA1 expression...
Specifically, RRSO provides BRCA1 mutation carriers with no prior breast cancer a 70% reduction of ovarian cancer risk. BRCA1 mutation carriers with prior...
breaks (also see Origin and function of meiosis).[citation needed] The PALB2-BRCA1 interaction is likely important for repairing such damages during male meiosis...
Helicases are a class of enzymes thought to be vital to all organisms. Their main function is to unpack an organism's genetic material. Helicases are motor...
seem to play a role in the development of breast and ovarian cancer in the BRCA1 gene, many of which are frameshift. Crohn's disease has an association with...
progression of the cell is impaired. Additionally, BRCA1 and BRCA2 levels fall when hnRNP C is lost. BRCA1 and BRCA2 are crucial tumor-suppressor genes which...
BRCA1 C Terminus (BRCT) domain is a family of evolutionarily related proteins. It is named after the C-terminal domain of BRCA1, a DNA-repair protein...
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