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Cancer Incidence in BRCA1 mutation carriers
Deborah Thompson1, Douglas F Easton,
1Cancer Research UK, Genetic Epidemiology Unit, University of Cambridge, United Kingdom.
Journal of the National Cancer Institute
|September 19, 2002
Summary
Individuals with BRCA1 mutations face a slightly increased risk of certain cancers beyond breast and ovarian. This elevated risk is primarily observed in women, particularly for pancreatic, uterine, and cervical cancers.
Area of Science:
- Genetics and Oncology
- Cancer Epidemiology
Background:
- Germline BRCA1 mutations are strongly linked to breast and ovarian cancer risks.
- The association between BRCA1 mutations and cancers at other sites requires further investigation.
Purpose of the Study:
- To assess the risk of various cancers in individuals carrying BRCA1 mutations.
- To determine if BRCA1 mutations increase the incidence of non-breast and non-ovarian cancers.
Main Methods:
- A cohort study involving 11,847 individuals from 699 families across Europe and North America.
- Comparison of observed cancer incidence in carriers versus expected rates in the general population.
- Estimation of relative risks (RRs) for BRCA1 mutation carriers using weighted probabilities.
Main Results:
- Significantly increased risks for pancreatic cancer (RR=2.26) and uterine body/cervix cancers (RR=2.65, RR=3.72) were observed.
- Elevated prostate cancer risk noted in younger carriers (<65 years, RR=1.82), but not older carriers.
- Overall increased cancer risk at other sites was small and primarily seen in women (RR=2.30), not men (RR=0.95).
Conclusions:
- BRCA1 mutation carriers have a small overall increased risk of cancers other than breast and ovary, predominantly in women.
- Potential increased risks for abdominal cancers in women and pancreatic cancer in both sexes warrant consideration.