Objective: To investigate alterations in PTCH2 in keratocystic odontogenic tumors (KCOT) associated with nevoid basal cell carcinoma syndrome (NBCCS).
Methods: Genomic DNA was extracted from samples of frozen lesion tissues and peripheral blood of 15 NBCCS patients with multiple KCOTs. PTCH2 mutations were detected by PCR-direct sequencing.
Results: 2 novel missence mutations(c.323 T>C,c.1319 C>T)of PTCH2 were identified and 9 polymorphisms (3 of which were novel) were determined in the present series.
Conclusion: Although not as frequent as PTCH1 mutations, PTCH2 germline mutations were detectable in a subset of NBCCS patients with KCOTs. The pathogenetic role of these PTCH2 mutations is yet to be clarified.
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