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.
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Authors | Giovanni Ponti, Annamaria Pollio, Lorenza Pastorino, Giovanni Pellacani, Cristina Magnoni, Sabina Nasti, Giulio Fortuna, Aldo Tomasi, Giovanna Bianchi Scarrà, Stefania Seidenari |
Journal | Oncology letters
(Oncol Lett)
Vol. 4
Issue 2
Pg. 241-244
(Aug 2012)
ISSN: 1792-1074 [Print] Greece |
PMID | 22844361
(Publication Type: Journal Article)
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