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This study compared language preferences to describe a cancer-related mutation in three groups: 253 members of the general community, 20 clinicians working in cancer genetics, and 269 individuals at increased risk of carrying a cancer-related mutation (including 198 women with a strong family history of breast and/or ovarian cancer, and 71 individuals with a family history of hereditary non-polyposis colorectal cancer). In the community sample, `faulty gene' was the preferred term to describe a cancer-related mutation, although females, those affected by cancer and those who felt cancer had a large impact on their lives were more likely to prefer the terms `gene change' or `altered gene'. In contrast, the clinicians' preference ratings for `faulty gene' and `gene change' were equal. When forced to choose between `faulty gene' and `altered gene', the high-risk patient group reported preferring `faulty gene', although over 40% were happy with either term. Further research investigating individuals' understanding of the different terms that can be used to describe a cancer-related mutation, and the functional impact of these terms on patients' thoughts and feelings about their condition and on their health-related behavior after genetic counseling would be worthwhile.