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.