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Subjective and Objective Risks of Carrying a BRCA1/2 Mutation in Individuals of Ashkenazi Jewish Descent
Authors:Kimberly Kelly  Howard Leventhal  Deborah Toppmeyer  Judy Much  James Dermody  Monica Marvin  Jill Baran  Marvin Schwalb
Affiliation:(1) Department of Behavioral Science, University of Kentucky, Lexington, Kentucky;(2) Institute for Health, Health Care Policy, and Aging Research, Rutgers University, New Brunswick, New Jersey;(3) Center for Human and Molecular Genetics, The New Jersey Medical School, University of Medicine and Dentistry of New Jersey, Newark, New Jersey;(4) High Risk Clinic, Cancer Institute of New Jersey, New Brunswick, New Jersey;(5) Spectrum Health, Grand Rapids, Michigan
Abstract: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.
Keywords:risk  breast cancer  hereditary cancer  genetic testing  BRCA  risk factors  decision making
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