Subjective interpretation of inconclusive BRCA1/2 cancer genetic test results and transmission of information to the relatives

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Objective:BRCA1/2 gene mutations are not frequently identified in breast or ovarian cancer patients who are the first members of their family to be tested. Little is known about how probands interpret and cope with these results, which are generally referred to as ‘inconclusive’. The aim of this study was to describe subjective understanding by women with cancer in response to an inconclusive BRCA1/2 test, describing the difficulties or non-difficulties they encountered about the transmission of information to their family.Methods:A cohort of 30 women with breast/ovarian cancer were followed for a period of up to 2 years after delivery of their inconclusive genetic test results. Self-administered questionnaires with closed and open questions were distributed. A qualitative analysis of open-ended questions is presented here.Results:These women's reactions to inconclusive results were of three kinds. The majority (n= 14) were still uncertain about their carrier status, which is an adequate medical interpretation of the results, while others (n= 9) took their inconclusive results to mean that they were definitely not carriers, and the women in the last group (n= 7) were convinced that they were actually carriers. There was some overlap between these perceptions and actual genetic risk.Conclusions:The transmission of information to the family was found to differ qualitatively across the three groups and more difficulties in this respect were expressed by those who were uncertain about their carrier status.

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