Abstract
Genetic testing for BRCA1 and BRCA2 (BRCA1/2) mutations can provide important information for women who are concerned about their breast and ovarian cancer risks and need to make relevant prevention and medical management decisions. However, lifetime risks of breast cancer in individual BRCA1/2 mutation carriers have been confusing to apply in clinical decision-making. Published risk estimates vary significantly and are very dependent on the characteristics of the population under study. Recently, Begg and colleagues estimated cancer risks in a population-based study of BRCA1/2 mutation carriers. Here, we discuss the clinical decision-making implications of this research in the context of risk factors that may influence risk estimates in BRCA1/2 mutation carriers.
Highlights
Family history mattersIn families with BRCA1/2 mutations, relatives of probands with ovarian cancer have a higher risk of ovarian cancer, and relatives of probands with breast cancer have a higher risk of breast cancer
In 1995, Easton and colleagues [1] provided an estimate of greater than 80% for the lifetime risk of breast cancer in BRCA1 carriers
In families with BRCA1/2 mutations, relatives of probands with ovarian cancer have a higher risk of ovarian cancer, and relatives of probands with breast cancer have a higher risk of breast cancer
Summary
In families with BRCA1/2 mutations, relatives of probands with ovarian cancer have a higher risk of ovarian cancer, and relatives of probands with breast cancer have a higher risk of breast cancer. Age at menarche and first birth, duration of breast feeding, mammographic density, exogenous hormone exposures, and dietary factors, including alcohol intake, are known to impact breast cancer risk in the general population (reviewed in [9,10,11,12,13]) Other environmental exposures have been investigated among BRCA1/2 mutation carriers, including cigarette smoking and caffeine intake, but results have been inconsistent [18,19,20,21] Medical interventions, such as risk-reducing salpingooophorectomy (RRSO), have been demonstrated to FDR = first-degree relative; RRSO = risk-reducing salpingo-oophorectomy. While it is not clear whether these effects are due to true cancer risk modification rather than selection biases, birth cohort effects could have influenced cancer risks and risks in different reports
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