Document Detail

Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report.
MedLine Citation:
PMID:  22844361     Owner:  NLM     Status:  Publisher    
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.
Giovanni Ponti; Annamaria Pollio; Lorenza Pastorino; Giovanni Pellacani; Cristina Magnoni; Sabina Nasti; Giulio Fortuna; Aldo Tomasi; Giovanna Bianchi Scarrà; Stefania Seidenari
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-5-08
Journal Detail:
Title:  Oncology letters     Volume:  4     ISSN:  1792-1082     ISO Abbreviation:  -     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-7-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101531236     Medline TA:  Oncol Lett     Country:  -    
Other Details:
Languages:  ENG     Pagination:  241-244     Citation Subset:  -    
Department of Head and Neck Surgery, Division of Dermatology, University of Modena and Reggio Emilia, Modena.
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