title: Basal cell carcinomas in gorlin syndrome: a review of 202 patients.
abstract: Gorlin syndrome (Naevoid Basal Cell Carcinoma Syndrome) is a rare autosomal dominant syndrome caused by mutations in the PTCH gene with a birth incidence of approximately 1 in 19,000. Patients develop multiple basal cell carcinomas of the skin frequently in early life and also have a predisposition to additional malignancies such as medulloblastoma. Gorlin Syndrome patients also have developmental defects such as bifid ribs and other complications such as jaw keratocysts. We studied the incidence and frequency of basal cell carcinomas in 202 Gorlin syndrome patients from 62 families and compared this to their gender and mutation type. Our data suggests that the incidence of basal cell carcinomas is equal between males and females and the mutation type cannot be used to predict disease burden.
authors.affiliation: Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK.
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Jones
authors.forename: Mohammed Imran
authors.initials: MI
authors.lastname: Sajid
authors.forename: Andrew
authors.initials: A
authors.lastname: Shenton
authors.forename: D Gareth
authors.initials: DG
authors.lastname: Evans