Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report

Giovanni Ponti, Annamaria Pollio, Lorenza Pastorino, Giovanni Pellacani, Cristina Magnoni, Sabina Nasti, Giulio Fortuna, Aldo Tomasi, Giovanna Bianchi Scarrà, Stefania Seidenari

Research output: Contribution to journalArticle

Abstract

Mutations in the Patched homolog 1 (PTCH1) gene lead to an autosomal dominant disorder known as nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome (GS). Several PTCH1 mutations have been observed in NBCCS associated with keratocystic odontogenic tumors (KCOTs), including non-syndromic KCOTs. The missense mutation c.3277G>C (p.G1093R) in exon 19 of the PTCH1 gene has only been reported in non-syndromic KCOTs. The present study reports for the first time a familial case (father and daughter) of NBCCS and KCOTs, carrying the same c.3277G>C (p.G1093R) germline mutation. This observation suggests that this missense mutation is involved in the pathogenesis of NBCCS as well as in a subset of non-syndromic KCOTs. The identification of a missense mutation may lead to an earlier diagnosis of NBCCS.

Original languageEnglish
Pages (from-to)241-244
Number of pages4
JournalOncology Letters
Volume4
Issue number2
DOIs
Publication statusPublished - Aug 2012

Keywords

  • Gorlin syndrome
  • Nevoid basal cell carcinoma syndrome
  • Odontogenic keratocysts
  • PTCH1

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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    Ponti, G., Pollio, A., Pastorino, L., Pellacani, G., Magnoni, C., Nasti, S., Fortuna, G., Tomasi, A., Scarrà, G. B., & Seidenari, S. (2012). Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report. Oncology Letters, 4(2), 241-244. https://doi.org/10.3892/ol.2012.707