Subjective and Objective Risks of Carrying a BRCA1/2 Mutation in Individuals of Ashkenazi Jewish Descent

Journal of Genetic Counseling(2003)

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摘要
This repeated measures study examines (1) the change in subjective risk of mutations pre- to postcounseling, (2) the accuracy of BRCAPRO estimates of mutations, and (3) the discrepancy between subjective risk and BRCAPRO estimates of mutations before and after genetic counseling. Ninety-nine Ashkenazi Jewish individuals pursued testing for BRCA1/2 mutations. Most had a personal cancer history ( N = 51; family only: N = 48); and received uninformative negative results ( N = 66; positives: N = 23; informative negative: N = 10). The coping strategy of defensive pessimism predicts that individuals will believe the worst case scenario to better cope with a potential negative outcome. Consistent with this, most felt they would have a mutation, if not mutations in both genes. The BRCAPRO model appeared to overestimate risk of having a mutation in this sample ( p < .001). BRCAPRO overestimates notwithstanding, genetic counseling increased accuracy of subjective risk ( p < .01). Individuals with a family-only cancer history had the least accurate estimates of risk ( p < .05) and may need further intervention to either manage anxiety or improve knowledge.
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关键词
risk,breast cancer,hereditary cancer,genetic testing,BRCA,risk factors,decision making
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