Purpose: Patients attending familial cancer clinics may find the term "mutation" offensive and potentially stigmatizing, yet there is little consensus in the literature as to the most appropriate alternative terms to describe a cancer-related mutation to individuals considering genetic testing for cancer risk. This study aimed to describe a cancer-related mutation in a rare group of familial cancer clinic patients: men at increased risk of carrying a breast cancer-related mutation.
Methods: Twenty-seven men completed a self-report questionnaire that assessed their preferences for language to describe a cancer-related mutation.
Despite the fact that both men and women can carry a breast/ovarian cancer-related mutation, the main emphasis in genetic counseling for breast/ovarian cancer-related risk remains on females. This study aimed to develop and pilot a decision aid specifically designed for men with a strong family history of breast and/or ovarian cancer who are considering genetic testing. The decision aid was developed by a multidisciplinary team of experts and a consumer representative.
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