Abstract
Nevoid basal cell carcinoma syndrome (NBCCS), also called Gorlin syndrome, is an autosomal dominant disorder characterized by minor anomalies and predisposition toward cancer. It is caused by mutations in the PTCH1 gene encoding a suppressor component of a receptor complex for a secreted protein, sonic hedgehog. We performed a nation-wide surveillance of NBCCS and reviewed the findings of 311 affected individuals. The major criteria were met at frequencies ranging form 36–86％ and 60％ of cases were expected to have novel mutations. Of note, compared with reports from Western countries, the frequency of basal cell carcinoma (BCC) was much smaller in Japanese (38％) and the mean age of onset of BCC was much younger (37.5 years). Mutational analyses demonstreted that 91％ of the NBCCS families carried PTCH1 mutations including large deletions. Clinical diagnosis of NBCCS is not always easy because some of the NBCCS phenotypes develop with age. Therefore, early genetic testing is advisable for the early detection of tumors and for the protection of BCCs.
