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