Abstract
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 identified in 2 sporadic and 3 syndromic cases, two of which being germline mutations (c.2179delT, c.2824delC) 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 of non‐syndromic KCOTs.
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Pan, S., Xu, L., Sun, L. et al. Identification of Known and Novel PTCH Mutations in Both Syndromic and Non‐syndromic Keratocystic Odontogenic Tumors. Int J Oral Sci 1, 34–38 (2009). https://doi.org/10.4248/ijos.08013
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DOI: https://doi.org/10.4248/ijos.08013
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