Gorlin syndrome (GS) is inherited in an autosomal dominant pattern with high-penetrance and is characterized by a range of developmental anomalies and increased risk of developing basal cell carcinoma and medulloblastoma. Between 50% and 85% of patients with GS harbor germ line mutations in the only susceptibility gene identified to date, PTCH1, a key component in the Sonic Hedgehog signaling pathway. Another component in this pathway, SUFU, is known to be involved in susceptibility to medulloblastoma but has never been reported in GS patients to date. We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. This is the first report of a germ line SUFU mutation associated with GS.

Background The incidence of melanoma continues to increase in many countries, and primary prevention of melanoma includes avoidance of sunburn as well as adequate sun protection behaviour. The aim of this study was to examine the prevalence of self-reported sun protection behaviours and sunburn in users of the Internet, and to identify the demographic, clinical and attitudinal/motivational correlates of sun protection behaviours. Methods Self-report data were gathered on behalf of GenoMEL (www.genomel.org) using an online survey available in 10 different languages, and 8,178 individuals successfully completed at least 80% of survey items, with 73% of respondents from Europe, 12% from Australia, 7% from the USA, 2% from Israel, and 6% from other countries. Results Half of all respondents and 27% of those with a previous melanoma reported at least one severe sunburn during the previous 12 months. The strongest factors associated with sun protection behaviour were perceived barriers to protection (β=−0.44/β=−0.37), and respondents who reported a positive attitude towards suntans were less likely to protect (β=−0.16/β=−0.14). Reported use of protective clothing and shade, as well as avoidance of midday sun exposure, were more strongly related to reduced risk of sunburn than sunscreen use. Conclusions Despite widespread dissemination of public health messages about the importance of sun protection, a substantial proportion of this international sample, including respondents with a previous melanoma, reported inadequate sun protection behaviours resulting in severe sunburn. Impact Future strategies to decrease sunburn should target the practical, social and psychological barriers associated with non-uptake of sun protection.