Role of PTCH and p53 genes in early-onset basal cell carcinoma

Citation
H. Zhang et al., Role of PTCH and p53 genes in early-onset basal cell carcinoma, AM J PATH, 158(2), 2001, pp. 381-385
Citations number
29
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Medical Research Diagnosis & Treatment
Journal title
AMERICAN JOURNAL OF PATHOLOGY
ISSN journal
0002-9440 → ACNP
Volume
158
Issue
2
Year of publication
2001
Pages
381 - 385
Database
ISI
SICI code
0002-9440(200102)158:2<381:ROPAPG>2.0.ZU;2-9
Abstract
Basal cell carcinoma (BCC) is the most common skin cancer in the Western wo rld. Ultraviolet (UV) exposure, race, age, gender, and decreased DNA repair capacity are known risk factors for the development of BCC, Of these, UVB irradiation from sunlight is the most significant risk factor. The incidenc e of sporadic BCC increases in individuals older than age 55, with the grea test incidence reported in individuals who are older than 70, and is rare i n individuals who are younger than 30., In this study, we analyzed 24 BCC s amples from individuals who had BCC diagnosed by the age of 30. Fifteen sin gle-stranded conformation polymorphism variants in the PTCH gene were ident ified in 13 BCC samples. Sequence analysis of these single-stranded conform ation polymorphism variants revealed 13 single nucleotide changes, one AT i nsertion, and one 15-bp deletion. Most of these nucleotide changes (nine of 15) were predicted to result in truncated PTCH proteins. Fifteen p53 mutat ions were also found in 11 of the 24 BCC samples. Thirty-three percent (fiv e of 15) and 60% (nine of 15) of the nucleotide changes in the PTCH and p53 genes, respectively, were UV-specific C-->T and CC-->TT nucleotide changes . Our data demonstrate that the p53 and PTCH genes are both implicated in t he development of early-onset BCC. The identification of UV-specific nucleo tide changes in both tumor suppressor genes suggests that UV exposure is an important risk factor in early onset of BCC.