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The chromosomal location of BRCA1 was discovered by Mary-Claire King's team at UC Berkeley in 1990. [21] After an international race to refine the precise location of BRCA1, [22] the gene was cloned in 1994 by scientists at University of Utah, National Institute of Environmental Health Sciences (NIEHS) and Myriad Genetics.
Inheriting one BRCA1 mutation and one BRCA2 mutation has been reported occasionally; the child's risk for any given type of cancer is the higher risk of the two genes (e.g., the ovarian cancer risk from BRCA1 and the pancreatic cancer risk from BRCA2). Inheriting two BRCA2 mutations produces Fanconi anemia. [9]: 82–85
BRE, the protein product of the BRE (gene), is a core component of the deubiquitin complex BRCA1-A. [8] Other core components of the BRCA1-A complex are the BRCC36 protein (BRCC3 gene), MERIT40 protein (BABAM1 gene), and RAP80 protein (UIMC1 gene). [8]
BRCA1 and BRCA2 are essential for homologous recombination DNA repair, and germline mutations in these genes are found in about 15% of women with ovarian cancer. [28] The most common mutations in BRCA1 and BRCA2 are the frameshift mutations that originated in a small founding population of Ashkenazi Jews. [29]
BRCA1, the first of these genes to be discovered; BRCA2, the second of these genes to be discovered; British Radio Car Association, a British radio controlled car racing organisation; Brotherhood Railway Carmen of America, a defunct American trade union; Bureau Central de Renseignements et d'Action, the Free French intelligence agency during ...
58202 Ensembl ENSG00000188986 ENSMUSG00000013465 UniProt Q8WX92 Q8C4Y3 RefSeq (mRNA) NM_015456 NM_021393 NM_001310157 RefSeq (protein) NP_056271 NP_001297086 NP_067368 Location (UCSC) Chr 9: 137.26 – 137.27 Mb Chr 2: 25.09 – 25.1 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Cofactor of BRCA1, also known as COBRA1, is a human gene that encodes NELF-B. Function NELF-B is a ...
BRCA1-associated RING domain protein 1 is a protein that in humans is encoded by the BARD1 gene. [ 5 ] [ 6 ] [ 7 ] The human BARD1 protein is 777 amino acids long and contains a RING finger domain (residues 46-90), four ankyrin repeats (residues 420-555), and a tandem BRCT domain (residues 568-777).
237911 Ensembl ENSG00000136492 ENSMUSG00000034329 UniProt Q9BX63 Q5SXJ3 RefSeq (mRNA) NM_032043 NM_178309 RefSeq (protein) NP_114432 NP_840094 Location (UCSC) Chr 17: 61.68 – 61.86 Mb Chr 11: 85.95 – 86.09 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Fanconi anemia group J protein is a protein that in humans is encoded by the BRCA1-interacting protein 1 (BRIP1) gene. Function ...