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Bull Cancer. 2011 Feb;98(2):184-98. doi: 10.1684/bdc.2011.1309.

[Cognitive, emotional and behavioral impact of an uncertain outcome after study of BRCA1/2: review of the literature].

[Article in French]

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Institut Curie, unité de psycho-oncologie, département interdisciplinaire de soins de support pour le patient en oncologie, Paris, France.



Recent advances in oncogenetics have enabled the development of tests for predisposition to breast and ovarian cancers. Where no mutation has been identified in the BRCA1 or 2 genes, the proband (first person tested in a family with a genetic risk) can receive an uncertain outcome: negative inconclusive or identification of a variant of unknown clinical significance. From the demonstration of such outcomes, their psychological impact has been studied among women concerned.


The purpose of this article is to summarize the results of studies about the impact of delivering an uncertain BRCA1/2 genetic result on emotional (general or cancer specific distress), cognitive (perception of risk) and behavioral (decisions of medical care) reactions of consultants. It is also to identify factors particularly associated with personal or familial medical history that may alter this impact.


A literature review was conducted from a key word search on the databases PsycINFO and PubMed (breast*, BRCA*, genetic*, familial, mutation, heredit*) crossed with terms related to the psychological impact and mutation status. Included papers are quantitative studies focused on the psychological impact of the uncertain genetic test result, compared to the impact resulting from positive or true negative result, or from test refusal.


The results of the eight selected articles generally suggest a less emotional distress and a lower perceived risk of predisposition or to develop cancer facing uncertain genetic result compared to positive result. Intentions of breast cancer surveillance are optimal, indicating the absence of "false reassurance", while demand for prophylactic surgery appears to be less frequent. Nevertheless risk factors of inappropriate psychological reactions may be highlighted as pretest clinical distress, a personal cancer history or multiple family history of cancer.


Current data suggest psychological reactions adapted to the clinical significance of uncertain genetic test results. These findings are preliminary given the small number of studies and their restriction to populations with similar sociocultural characteristics.

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