075 PTCH1 mutations in high-frequency basal cell carcinoma patients without Gorlin stigmata

Gorlin syndrome is an autosomal dominant disorder characterized by tumor preponderance and developmental defects. Diagnosis is traditionally made based on clinical criteria, including the presence of major features, such as multiple basal cell carcinomas (BCCs), palmar and plantar pits, jaw keratocysts, and falcine calcification, as well as minor features, including skeletal and radiologic abnormalities. Gorlin syndrome is predominantly caused by mutations in patched 1 (PTCH1), a tumor suppressor gene in the hedgehog signaling pathway.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Carcinogenesis and Cancer Genetics Source Type: research