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Adapted from refs. 191-194.

BRCA1 have been reported to occur in 3-6% of all patients with epithelial ovarian carcinoma (7,90) and in only 1 of 800 people in the general population. Even among women with a personal history of breast cancer (unselected for family history), the rate of BRCA mutation is approx 3-4% (91). However, the prevalence of BRCA mutations varies depending on ethnicity, and personal and family history (Table 4). The prevalence of mutations may be as high as 2.5% in individuals of Ashkenazi Jewish heritage (92,93). In these patients, three founder mutations, the 185delAG and 5382insC mutations in BRCA1 and the 6174delT mutation in BRCA2, account for 90% of the cases of breast and ovarian cancer. Forty percent of Ashkenazi women with a personal history of ovarian cancer carry a mutation in the BRCA1 or BRCA2 genes (94,95). Among Ashkenazi women with breast cancer, the rate is approx 10% (96,97). Although, the mutation rate is approx 3% among women with breast cancer in the general population, those who also have a relative with ovarian cancer have a 22.8% rate of BRCA mutation (91). Among patients with breast cancer evaluated at a clinic for high-risk patients, those with a family history of breast and/or ovarian cancer have a 40% chance of carrying a mutation in BRCA1 or BRCA2 (91).

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