Mutational analyses of candidate genes in human squamous cell carcinomas

Objectives and Study Design: Squamous cell carcinomas are common malignanci es and a major cause of mortality. The molecular mechanisms involved in tum origenesis remain largely unknown, but sequence alterations have been ident ified in coding regions of several genes. Primary squamous cell carcinomas of various tissues (skin, head and neck, esophagus, lung, penis, uterus, an d vagina) from 52 patients were analyzed for the presence of mutations with in several candidate genes presumably involved in tumorigenesis: Gs alpha, Gi(2)alpha, GTPase activating protein (GAP), and patched (PTCH) genes. Meth ods: Mutational analysis scheme included polymerase chain reaction (PCR), d enaturing gradient gel electrophoresis (DGGE), single stranded conformation al polymorphism (SSCP), and selected sequence analysis. Results and Conclus ion: No tumor had any evidence of mutations in any of these analyzed genes. Mutations within these genes do not occur frequently in an unselected popu lation of patients with squamous cell carcinomas.