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

H. Anton-culver et al., Characteristics of BRCA1 mutations in a population-based case series of breast and ovarian cancer, EUR J CANC, 36(10), 2000, pp. 1200-1208
Citations number
Categorie Soggetti
Oncology,"Onconogenesis & Cancer Research
Journal title
ISSN journal
0959-8049 → ACNP
Year of publication
1200 - 1208
SICI code
Breast and ovarian cancers account for approximately 210 000 newly diagnose d cases per year. More than half a million American women are estimated to be carriers of a breast cancer susceptibility gene. The purpose of this stu dy was to assess the association of characteristics such as, age at diagnos is, race/ethnicity and family history of cancer with inherited BRCA1 mutati ons in a population-based sample of breast and ovarian cancer cases. No sel ection was made by race, age at diagnosis or positive family history of bre ast or ovarian cancer. The population under study was all breast cancer cas es diagnosed in Orange County, CA, during the 1-year period beginning 1 Mar ch 1994 and all ovarian cancer cases diagnosed in Orange County during the 2-year period beginning 1 March 1994. This report focuses on the first cons ecutively ascertained 802 participating probands enrolled in the study, of which 9 were male breast cancer probands, 673 were female breast cancer pro bands and 120 were ovarian cancer probands. We observed 11 BRCA1 mutations or 1.6% (95% CI: 0.8-2.9) among the 673 female breast cancer probands and 1 BRCA1 mutations or 3.3% (95% CI: 0.8-8.3) among the 120 ovarian cancer pro bands. No BRCA1 mutations were identified among the 98 non-white breast and ovarian cancer probands. The prevalence of BRCA1 mutations in non-Hispanic -white breast cancer cases below the age of 50 years was 2%. Positive famil y history of breast ol ovarian cancers was significantly associated with BR CA1 mutation status among breast cancer probands. Similarly, positive famil y history of breast or ovarian cancer was significantly associated with BRC A1 mutation status among the ovarian cancer probands. In summary, we presen t results on the prevalence of BRCA1 mutations in a significantly larger sa mple of population-based breast and ovarian cancer cases than previously re ported. The results indicate that, using a conservative approach to targete d genotyping of BRCA1. the frequency of mutations was consistent with those reported using similar methods of population-based case ascertainment. (C) 2000 Published by Elsevier Science Ltd. All rights reserved.