No Evidence For Mutations In Exons 1, 8 And 18 Of The Patched Gene In Sporadic Skin Lesions Of Brazilian Patients.

dc.creatorGranja, F
dc.creatorSantarosa, P L
dc.creatorLeite, J L A A P
dc.creatorWard, L S
dc.date2003-Apr
dc.date2015-11-27T12:52:48Z
dc.date2015-11-27T12:52:48Z
dc.date.accessioned2018-03-29T00:58:46Z
dc.date.available2018-03-29T00:58:46Z
dc.identifierBrazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas / Sociedade Brasileira De Biofísica ... [et Al.]. v. 36, n. 4, p. 459-62, 2003-Apr.
dc.identifier0100-879X
dc.identifier
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/12700822
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/195730
dc.identifier12700822
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1295963
dc.descriptionThere 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.
dc.description36
dc.description459-62
dc.languageeng
dc.relationBrazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas / Sociedade Brasileira De Biofísica ... [et Al.]
dc.relationBraz. J. Med. Biol. Res.
dc.rightsaberto
dc.rights
dc.sourcePubMed
dc.subjectAdult
dc.subjectCarcinoma, Basal Cell
dc.subjectCarcinoma, Squamous Cell
dc.subjectDna, Neoplasm
dc.subjectExons
dc.subjectFemale
dc.subjectHumans
dc.subjectMale
dc.subjectMelanoma
dc.subjectMembrane Proteins
dc.subjectMutation
dc.subjectPolymerase Chain Reaction
dc.subjectPolymorphism, Single-stranded Conformational
dc.subjectReceptors, Cell Surface
dc.subjectSkin Neoplasms
dc.titleNo Evidence For Mutations In Exons 1, 8 And 18 Of The Patched Gene In Sporadic Skin Lesions Of Brazilian Patients.
dc.typeArtículos de revistas


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