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Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program
Marcia S Brose1, Timothy R Rebbeck, Kathleen A Calzone
1Department of Medicine and Abramson Family Cancer Research Institute, University of Pennsylvania Cancer Center, Philadelphia 19104, USA.
Journal of the National Cancer Institute
|September 19, 2002
Summary
BRCA1 mutation carriers identified in clinics face higher breast and ovarian cancer risks than the general population. These risks are lower than those from linkage studies, offering more accurate counseling for clinic-based populations.
Area of Science:
- Genetics
- Oncology
- Epidemiology
Background:
- BRCA1 mutation carriers are increasingly identified in cancer risk programs.
- Lack of clinic-specific cancer risk data hinders accurate genetic counseling.
- Disparate risk estimates from linkage and population studies complicate counseling.
Purpose of the Study:
- To estimate BRCA1-related cancer risks for individuals identified in a breast cancer risk evaluation clinic.
- To provide clinically relevant risk data for genetic counseling.
Main Methods:
- Analysis of 483 BRCA1 mutation carriers from two academic clinics.
- Calculation of cumulative observed and age-adjusted cancer risks.
- Comparison of age-of-diagnosis using two-sided Student's t tests.
Main Results:
- By age 70, female breast cancer risk was 72.8% and ovarian cancer risk was 40.7%.
- Risk for a second primary breast cancer by age 70 was 40.5%.
- Increased risks observed for colon (2x), pancreas (3x), stomach (4x), and fallopian tube (120x) cancers compared to SEER data.
Conclusions:
- BRCA1 mutation carrier risks for breast and ovarian cancers are higher than population estimates.
- These risks are lower than those from linkage studies, providing a more accurate estimate for clinic populations.
- Findings offer improved risk assessment for individuals in cancer risk evaluation clinics.