A follow-up study on men tested for BRCA1/BRCA2 mutations: Impacts and coping processes

Objective The objective of this study was to examine cognitive, emotional, and behavioral impacts of testing for germline mutations in breast/ovarian cancer-associated genes (BRCA1/BRCA2) among men who undergo genetic testing. Methods A cross-sectional study compared 51 mutation carriers with 30 men who tested negative for the mutations in both genes. Telephone interviews were conducted with all participants at a median of 4 years after disclosure of test results in a genetic counseling context. Testing-related distress, cancer risk perceptions, perceived behavioral changes following testing, and perceptions of breast cancer were measured using standard questionnaires. Results Up to 4 years postgenetic testing, 48% of those who tested positively report that the test increased their perceptions of risk, and 74% of them increased surveillance for cancer. Men who had been tested as non-carriers did not report increased perceived risk (0%) and relatively few increased surveillance (31%). Carriers were significantly more distressed from testing, perceived breast cancer as having less consequences and emotional effects on the patient, and as being more treatable than non-carriers. Conclusions These results have implications with regard to the Self Regulatory Theory. They show that (i) illness representations are affected by fear-arousing health information; (ii) risk perceptions elicit health behaviors; and (iii) men tested for BRCA mutations have specific concerns that should be attended to.