Characteristics of BRCA1 mutations in a population-based case series of breast and ovarian cancer

摘要: Breast and ovarian cancers account for approximately 210000 newly diagnosed cases per year. More than half a million American women are estimated to be carriers of breast cancer susceptibility gene. The purpose this study was assess the association characteristics such as, age at diagnosis, race/ethnicity family history with inherited BRCA1 mutations in population-based sample cases. No selection made by race, diagnosis or positive cancer. population under all Orange County, CA, during 1-year period beginning 1 March 1994 County 2-year 1994. This report focuses on first consecutively ascertained 802 participating probands enrolled study, which 9 were male probands, 673 female 120 probands. We observed 11 1.6% (95% CI: 0.8-2.9) among 4 3.3% 0.8-8. 3) identified 98 non-white prevalence non-Hispanic-white below 50 years 2%. Positive significantly associated mutation status Similarly, In summary, we present results larger previously reported. indicate that, using conservative approach targeted genotyping BRCA1, frequency consistent those reported similar methods case ascertainment.