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No Evidence of False Reassurance among Women with an Inconclusive BRCA1/2 Genetic Test Result

INHERIT BRCAs, Jacques Simard^1,6

¹ Université Laval; ² Unité de recherche en santé des populations, Centre hospitalier affilié universitaire de Québec, Hôpital du Saint-Sacrement; ³ Centre des maladies du sein Deschênes-Fabia; ⁴ Service de gynécologie oncologique, Centre hospitalier universitaire de Québec, Hôtel-Dieu de Québec; ⁵ Département de génétique, Centre hospitalier de Université Laval; ⁶ Laboratoire de génomique des cancers, Centre de recherche du Centre hospitalier de Université Laval, Québec, Canada; ⁷ Concordia University, Montréal, Canada; and ⁸ Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada

Requests for reprints: Michel Dorval, Unité de recherche en santé des populations, Centre hospitalier affilié universitaire de Québec, Hôpital du Saint-Sacrement, 1050 chemin Sainte-Foy, Québec, Québec, Canada G1S 4L8. Phone: 418-682-8047; Fax: 418-682-7949. E-mail: mdorval{at}uresp.ulaval.ca

Background: Little is known about how women who receive an inconclusive result from BRCA1/2 testing interpret their result. Clinical observations suggest that some of them may be falsely reassured and, consequently, may not adhere to recommended surveillance. The purpose of this study is to evaluate whether women with inconclusive BRCA1/2 test results are falsely reassured.

Methods: Participants were adult women with a family history suggestive of a germ-line mutation in either the BRCA1 or the BRCA2 gene who underwent genetic testing in the context of the interdisciplinary research program INHERIT BRCAs. Data were collected using selfadministered questionnaires at genetic counseling and 1 month after result disclosure. Reassurance was assessed through indicators of cancer risk perception, cancer worry, relief following result disclosure, painfulness of the test result, and its effect on quality of life.

Results: Five-hundred women (105 carriers, 140 noncarriers, and 255 inconclusive) were included in this analysis. Compared to noncarriers, women with inconclusive results had higher cancer risk perception, were more worried about cancer, were less relieved by their test result, and perceived their quality of life as being more adversely affected by it.

Conclusion: The differences observed between noncarriers and women who received an inconclusive result run counter to the hypothesis that the latter are falsely reassured following BRCA1/2 testing. For clinicians, our findings show the value of taking precautions to fully explain to women that inconclusive results do not rule out the possibility that they still may face a higher risk of developing breast and/or ovarian cancer. (Cancer Epidemiol Biomarkers Prev 2005;14(12):2862–7)