Laurie Barclay, MD Aug. 21, 2002
The penetrance of BRCA1 and BRCA2 mutations has been overestimated because the original studies looked at high-risk families, according to an article in the Aug. 21 issue of the Journal of the National Cancer Institute. Less biased population studies suggest a penetrance of only about 45% to 68% rather than 90%, suggesting that we
should temper our expectations for predictive genetic tests while clarifying the role of other causative factors.
“Substantial heterogeneity exists in the risk for cancer among individuals in the population,” writes Colin B. Begg,
PhD, from the Memorial Sloan-Kettering Cancer Center in New York, NY. “Penetrance estimates from case proband studies must be inflated if other factors influence breast cancer risk in addition to the specific genetic abnormality.”
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