[PTCH2 gene alterations in keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome].
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.


CONCLUSIONS
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.
Xu
Li-Li
LL
Department of Pathology, Peking University School and Hospital of Stomatology, Beijing 100081, China.
Li
Tie-Jun
TJ
D000293:Adolescent; D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000150:complications / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009807:Odontogenic Cysts / Q000150:complications / Q000235:genetics*; D009808:Odontogenic Tumors / Q000150:complications / Q000235:genetics*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D000072082:Patched-2 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics*; D055815:Young Adult
C000606236:PTCH1 protein, human; C000606238:PTCH2 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D000072082:Patched-2 Receptor; D011956:Receptors, Cell Surface