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107976 Ensembl ENSG00000158019 ENSMUSG00000052139 UniProt Q9NXR7 Q8K3W0 RefSeq (mRNA) NM_001261840 NM_001329112 NM_001329113 NM_001329114 NM_001329115 NM_004899 NM_199191 NM_199192 NM_199193 NM_199194 NM_144541 NM_181279 NM_181280 NM_181281 NM_181282 RefSeq (protein) NP_001248769 NP_001316041 NP_001316042 NP_001316043 NP_001316044 NP_004890 NP_954661 NP_954662 NP_954663 NP_954664 NP_653124 NP ...
Women with harmful mutations in either BRCA1 or BRCA2 have a risk of breast cancer that is about five times the normal risk, and a risk of ovarian cancer that is about ten to thirty times normal. [3] The risk of breast and ovarian cancer is higher for women with a high-risk BRCA1 mutation than with a BRCA2 mutation. Having a high-risk mutation ...
BRCA1 and BRCA2 play crucial roles in maintaining genome integrity, mainly through homologous recombination (HR) for DNA double-strand breaks (DSB)repair. The mutations of BRCA1 and BRCA2 can lead to a reduced capacity of HR machinery, increased genomic instability, and elicit a predisposition to malignancies. [2]
A patent application for the isolated BRCA1 gene and cancer-cancer promoting mutations, as well as methods to diagnose the likelihood of getting breast cancer, was filed by the University of Utah, National Institute of Environmental Health Sciences (NIEHS) and Myriad Genetics in 1994; [42] over the next year, Myriad, in collaboration with other ...
BRCC36, the protein product of the BRCC3 gene, is a deubiquitinating enzyme and a core component of the deubiquitin complex BRCA1-A. [8] BRCA1, as distinct from BRCA1-A, is employed in the repair of chromosomal damage with an important role in the error-free homologous recombinational (HR) repair of DNA double-strand breaks.
Only about 3%–8% of all women with breast cancer carry a mutation in BRCA1 or BRCA2. [70] Similarly, BRCA1 mutations are only seen in about 18% of ovarian cancers (13% germline mutations and 5% somatic mutations). [71] Thus, while BRCA1 expression is low in the majority of these cancers, BRCA1 mutation is not a major cause of reduced ...
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