Publications by authors named "Debra Dutson"
Background: Deleterious mutations of the BRCA1 and BRCA2 genes confer susceptibility to breast and ovarian cancer. At least 7 models for estimating the probabilities of having a mutation are used widely in clinical and scientific activities; however, the merits and limitations of these models are not fully understood.
Objective: To systematically quantify the accuracy of the following publicly available models to predict mutation carrier status: BRCAPRO, family history assessment tool, Finnish, Myriad, National Cancer Institute, University of Pennsylvania, and Yale University.
Article Synopsis
- The study evaluates the penetrance of BRCA1 and BRCA2 mutations in US families, using a large cohort to identify risks for breast and ovarian cancer, particularly among Ashkenazi Jews and other ethnic groups.
- Researchers analyzed data from 676 Ashkenazi Jewish families and 1,272 families of other ethnicities, correcting for sampling bias and utilizing detailed family histories.
- Findings indicate that while the cumulative breast cancer risk is estimated around 46% for BRCA1 and 43% for BRCA2 carriers by age 70, these risks are lower compared to other Western populations, suggesting the need for tailored genetic counseling.
Mutations in the BRCA1 gene are associated with an increased risk of breast and ovarian cancer in carrier women. An understanding of behavioral responses to BRCA1 mutation testing by mutation carriers and non-carriers is important to guide the clinical application of this new technology. This study examined the utilization of genetic testing for a BRCA1 mutation in high-risk individuals and the response of tested women with respect to interventions for early cancer detection and prevention.
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