Your browser doesn't support javascript.
loading
No evidence for mutations in exons 1, 8 and 18 of the patched gene in sporadic skin lesions of Brazilian patients
Granja, F; Santarosa, P. L; Leite, J. L. A. A. P; Ward, L. S.
  • Granja, F; Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Clínica Médica. Laboratório de Genética Molecular do Câncer. Campinas. BR
  • Santarosa, P. L; Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Clínica Médica. Laboratório de Genética Molecular do Câncer. Campinas. BR
  • Leite, J. L. A. A. P; Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Clínica Médica. Laboratório de Genética Molecular do Câncer. Campinas. BR
  • Ward, L. S; Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Clínica Médica. Laboratório de Genética Molecular do Câncer. Campinas. BR
Braz. j. med. biol. res ; 36(4): 459-462, Apr. 2003. ilus
Article in English | LILACS | ID: lil-331229
RESUMO
There is strong evidence that the patched (PTCH) gene is a gene for susceptibility to the nevoid basal cell carcinoma syndrome. PTCH has also been shown to mutate in both familial and sporadic basal cell carcinomas. However, mutations of the gene seem to be rare in squamous cell carcinomas. In order to characterize the role of the gene in the broader spectrum of sporadic skin malignant and pre-malignant lesions, we performed a polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis of genomic DNA extracted from 105 adult patients (46 females and 59 males). There were 66 patients with basal cell carcinomas, 30 with squamous cell carcinomas, 2 with malignant melanomas and 7 patients with precancerous lesions. Two tissue samples were collected from each patient, one from the central portion of the tumor and another from normal skin. Using primers that encompass the entire exon 1, exon 8 and exon 18, where most of the mutations have been detected, we were unable to demonstrate any band shift. Three samples suspected to present aberrant migrating bands were excised from the gel and sequenced directly. In addition, we sequenced 12 other cases, including tumors and corresponding normal samples. A wild-type sequence was found in all 15 cases. Although our results do not exclude the presence of clonal alterations of the PTCH gene in skin cancers or mutations in other exons that were not screened, the present data do not support the presence of frequent mutations reported for non-melanoma skin cancer of other populations
Subject(s)
Full text: Available Index: LILACS (Americas) Main subject: Skin Neoplasms / Exons / Mutation Limits: Adult / Female / Humans / Male Country/Region as subject: South America / Brazil Language: English Journal: Braz. j. med. biol. res Journal subject: Biology / Medicine Year: 2003 Type: Article / Congress and conference Affiliation country: Brazil Institution/Affiliation country: Universidade Estadual de Campinas/BR

Similar

MEDLINE

...
LILACS

LIS

Full text: Available Index: LILACS (Americas) Main subject: Skin Neoplasms / Exons / Mutation Limits: Adult / Female / Humans / Male Country/Region as subject: South America / Brazil Language: English Journal: Braz. j. med. biol. res Journal subject: Biology / Medicine Year: 2003 Type: Article / Congress and conference Affiliation country: Brazil Institution/Affiliation country: Universidade Estadual de Campinas/BR