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Aim To clarify the role of PTCH in patients with NBCCS-related and non-sydromic keratocystic odontogenic tumors. Methodology Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs. Results Four novel and two known mutations were identi- fied in 2 sporadic and 3 syndromic cases,two of which being germline mutations(c.2179delT,c.2824de1C) and 4 somatic mutations(c.3162dupG,c.1362-1374dup,c.1012 C>T,c.403C>T). Conclusion Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset ofnon-syndromic KCOTs.
Aim To clarify the role of PTCH in patients with NBCCS-related and non-sydromic keratocystic odontogenic tumors. Methodology Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs. Results Four novel and two known mutations were identi fi ed in 2 sporadic and 3 syndromic cases, two of which are germline mutations (c.2179delT, c.2824de1C) and 4 somatic mutations (c.3162dupG, c.1362-1374dup, c.1012 C> T, c.403C> T) Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.