title: UV-specific p53 and PTCH mutations in sporadic basal cell carcinoma of sun-exposed skin.
abstract: UVB irradiation is known to produce DNA damage at mutation hotspots in the p53 tumor suppressor gene, leading to the development of skin cancers. Mutations in the PTCH tumor suppressor gene, which is known to be responsible for the development of nevoid basal cell carcinoma syndrome, have also been identified in sporadic basal cell carcinomas (BCCs). We describe the case of an 80-year-old welder in whom 3 novel p53 mutations, as well as UV-specific PTCH mutations, were detected in two BCC samples from sun-exposed skin. The simultaneous presence of UV-specific p53 and PTCH mutations in the same BCC sample has not previously been reported.
authors.affiliation: Department of Dermatology, College of Physicians and Surgeons of Columbia University, New York, Ny, USA. dr221@columbia.edu
authors.forename: D
authors.initials: D
authors.lastname: Ratner
authors.forename: M
authors.initials: M
authors.lastname: Peacocke
authors.forename: H
authors.initials: H
authors.lastname: Zhang
authors.forename: X L
authors.initials: XL
authors.lastname: Ping
authors.forename: H C
authors.initials: HC
authors.lastname: Tsou
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002280:Basal Cell Carcinoma / Q000235:genetics*; D017353:Gene Deletion; D016147:Genes, Tumor Suppressor / Q000235:genetics* / Q000528:radiation effects; D016158:Genes, p53 / Q000235:genetics* / Q000528:radiation effects; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000528:radiation effects; D009154:Mutation; D020125:Mutation, Missense; D009381:Neoplasms, Radiation-Induced / Q000235:genetics*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D017354:Point Mutation; D011956:Receptors, Cell Surface; D012878:Skin Neoplasms / Q000235:genetics*; D013472:Sunlight / Q000009:adverse effects*
chemical_list: D008565:Membrane Proteins; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface