Distress among women receiving uninformative BRCA1/2 results: 12-Month outcomes

Suzanne C. O'Neill, Christine Rini, Rachel E. Goldsmith, Heiddis Valdimarsdottir, Lawrence H. Cohen, Marc D. Schwartz

Research output: Contribution to journalArticlepeer-review

83 Scopus citations


Objective: Few data are available regarding the long-term psychological impact of uninformative BRCA1/2 test results. This study examines change in distress from pretesting to 12-months post-disclosure, with medical, family history, and psychological variables, such as pretesting perceived risk of carrying a deleterious mutation prior to testing and primary and secondary appraisals, as predictors. Methods: Two hundred and nine women with uninformative BRCA1/2 test results completed questionnaires at pretesting and 1-, 6-, and 12-month post-disclosure, including measures of anxiety and depression, cancer-specific and genetic testing distress. We used a mixed models approach to predict change in post-disclosure distress. Results: Distress declined from pretesting to 1-month post-disclosure, but remained stable thereafter. Primary appraisals predicted all types of distress at 1-month post-disclosure. Primary and secondary appraisals predicted genetic testing distress at 1-month as well as change over time. Receiving a variant of uncertain clinical significance and entering testing with a high expectation for carrying a deleterious mutation predicted genetic testing distress that persisted through the year after testing. Conclusions: As a whole, women receiving uninformative BRCA1/2 test results are a resilient group. For some women, distress experienced in the month after testing does not dissipate. Variables, such as heightened pretesting perceived risk and cognitive appraisals, predict greater likelihood for sustained distress in this group and could be amenable to intervention.

Original languageEnglish
Pages (from-to)1088-1096
Number of pages9
Issue number10
StatePublished - Oct 2009


  • BRCA1/2
  • Cancer
  • Distress
  • Oncology
  • Uninformative


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