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The BRCA2 gene is located on the long (q) arm of chromosome 13 at position 12.3 (13q12.3). [16] The human reference BRCA2 gene contains 27 exons, and the cDNA has 10,254 base pairs [17] coding for a protein of 3418 amino acids. [18] [19]
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 genes have been identified, some of which have been determined to be harmful, while others have no proven impact.
Harmful mutations in BRCA2 - a gene responsible for repairing damaged DNA - significantly increase the risk of breast, ovarian, prostate and pancreatic cancers. About 45% of women who inherit a ...
BRCA mutations: [5] Harmful mutations in the BRCA1 and BRCA2 genes can produce very high rates of breast and ovarian cancer, as well as increased rates of other cancers. Mutations in BRCA1 are associated with a 39-46% risk of ovarian cancer and mutations in BRCA2 are associated with a 10-27% risk of ovarian cancer. [6] Other identified genes ...
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]
Studies have shown that prophylactic mastectomies, like Jolie's, can reduce the risk of breast cancer by more than 90 percent in women with flawed BRCA 1 and 2 genes. Preventative mastectomies can ...
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