UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients (Articolo in rivista)

Type
Label
  • UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients (Articolo in rivista) (literal)
Anno
  • 2000-01-01T00:00:00+01:00 (literal)
Alternative label
  • D'Errico M.; Stefanini M.; Dogliotti E.; Calcagnile A.; Canzona F.; Didona B.; Posteraro P.; Cavalieri R.; Corona R.; Vorechovsky I.; Nardo T. (2000)
    UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients
    in Oncogene (Basingstoke)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • D'Errico M.; Stefanini M.; Dogliotti E.; Calcagnile A.; Canzona F.; Didona B.; Posteraro P.; Cavalieri R.; Corona R.; Vorechovsky I.; Nardo T. (literal)
Pagina inizio
  • 463 (literal)
Pagina fine
  • 467 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://www.scopus.com/inward/record.url?eid=2-s2.0-0034688339&partnerID=q2rCbXpz (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 19 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 3 (literal)
Note
  • Scopu (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Lab. of Compar. Toxicol./E., Istituto Superiore di Sanita', Viale Regina Elena 299, 00161 Rome; Ist. Dermopatico dell'Immacolata, Via dei Monti di Creta 104, 00167 Rome; Karolinska Institute, Department of Bioscience of Novum, Center of Nutrition and Toxicology, S-14157 Huddinge; Ist. di Genet. Biochim. ed E., Consiglio Nazionale delle Ricerche, Via Abbiategrasso 207, 27100 Pavia (literal)
Titolo
  • UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients (literal)
Abstract
  • Molecular analysis of p53 and patched (PTCH), two candidate tumor suppressor genes for non-melanocytic skin cancer, was performed in skin tumors from six patients affected by the cancer-prone disease xeroderma pigmentosum (XP). UV-specific p53 mutations were detected at a frequency of 38-50 in all the tumor types analysed, including melanomas. Additional analysis of PTCH mutations in the subset of eight basal call carcinomas (BCC) revealed a very high mutation frequency of this gene (90) which exceeded that detected in the p53 gene in the same tumors (38). PTCH mutations were predominantly UV-specific C > T transitions. This mutation pattern is different from that reported in BCC from normal donors where PTCH mutation frequency is 27 and mutations are frequently deletions and insertions. These findings suggest that PTCH mutations represent an earlier event in BCC development than p53 alterations and that the inability of XP patients to repair UV-induced PTCH mutations might significantly contribute to the early and frequent appearance of BCC observed in these patients. (literal)
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