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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]
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 ...
The lifetime risk of a female developing breast and/or ovarian cancer increases if she inherits a harmful mutation of BRCA1 or BRCA2, but the severity depends on the type of mutation. [8] Each year, about 3% of breast cancers and 10% of ovarian cancers result from inherited mutations in the BRCA1 and BRCA2 genes. [9]
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 ...
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]
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