title: Lack of somatic mutation in the PTEN gene in squamous cell carcinomas of human skin.
abstract: The tumor suppressor gene PTEN is deleted and/or mutated in a variety of tumors and the susceptibility gene for Cowden disease. Loss of heterozygosity of chromosome 10q23, where PTEN resides, in squamous cell carcinomas (SCCs) of human skin and the association of SCC with Cowden disease were reported previously. In the present study, we screened for mutations of PTEN in SCCs by polymerase chain reaction single strand conformation polymorphism analysis to examine whether PTEN is involved in the carcinogenesis of SCC. None of 21 SCCs showed somatic mutations in the coding regions of PTEM. Instead the same allelic variation was detected in two cases without any clinical features of Cowden disease. Our results indicate that inactivation of PTEN does not play an important role in the carcinogenesis of SCC.
authors.affiliation: Department of Dermatology, School of Medicine, The University of Tokushima, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Kubo
authors.forename: Y
authors.initials: Y
authors.lastname: Urano
authors.forename: Y
authors.initials: Y
authors.lastname: Hida
authors.forename: S
authors.initials: S
authors.lastname: Arase
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D004273:DNA, Neoplasm / Q000032:analysis / Q000235:genetics; D006801:Humans; D009154:Mutation; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D012878:Skin Neoplasms / Q000235:genetics*; D025521:Tumor Suppressor Proteins
chemical_list: D004273:DNA, Neoplasm; D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human