What's the message? Interpretation of an uninformative BRCA1/2 test result for women at risk of familial breast cancer

Sandra Van Dijk, Wilma Otten, Daniëlle R.M. Timmermans, Christi J. Van Asperen, Hanne Meijers-Heijboer, Aad Tibben, Martijn H. Breuning, Job Kievit

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Purpose: To test the "false-reassurance hypothesis," which suggests that women who receive an uninformative BRCA1/2 test result may incorrectly conclude that they no longer have an elevated risk, with possible harmful consequences for adherence to breast surveillance guidelines. Methods: A prospective questionnaire design was used to compare 183 women with an uninformative BRCA test result (94 affected and 89 unaffected) with 41 proven BRCA mutation-carriers and 49 true negatives before and after BRCA1/2 test disclosure. Results: After DNA-test disclosure, test applicants differed from each other with regard to their perception of the likelihood of carrying a deleterious gene (P < 0.0001). The BRCA mutation carriers reported the highest perceived likelihood and the true negatives reported the lowest. Compared to the predisclosure measures, women who received an uninformative DNA test result reported a lower perceived risk after disclosure (P < 0.0001), suggesting a relatively high level of reassurance because of the test result. However, after DNA-test disclosure, only 12 women concluded that the risk of carrying a mutation was nonexistent, and perceived likelihood was significantly associated with the pedigree-based risk assessment (P = 0.0001). Moreover, despite the significant decrease in perceived likelihood for uninformative women, intention to obtain mammograms did not change (P = 0.71); it remained at the same almost optimal level as for BRCA mutation carriers. Conclusion: No support was found for the suggestion that the nature of uninformative test results is often misunderstood. Moreover, an uninformative test result did not affect the positive mammography intentions of both affected and unaffected women.

Original languageEnglish
Pages (from-to)239-245
Number of pages7
JournalGenetics in medicine
Issue number4
Publication statusPublished - 1 Apr 2005


  • BRCA1/2 testing
  • Mammography screening
  • Risk perception
  • Uninformative result

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