@article {SHIMURA3233, author = {MICHIKO SHIMURA and KOH-ICHI NAKASHIRO and YUTA SAWATANI and TOMONORI HASEGAWA and RYOTA KAMIMURA and SAYAKA IZUMI and YUSKE KOMIYAMA and CHONJI FUKUMOTO and SHUMA YAGISAWA and ERIKA YAGUCHI and MASAYO HITOMI-KOIDE and TOSHIKI HYODO and DAISUKE UCHIDA and HITOSHI KAWAMATA}, title = {Whole Exome Sequencing of SMO, BRAF, PTCH1 and GNAS in Odontogenic Diseases}, volume = {34}, number = {6}, pages = {3233--3240}, year = {2020}, doi = {10.21873/invivo.12159}, publisher = {International Institute of Anticancer Research}, abstract = {Background/Aim: Odontogenic diseases are diagnosed based on clinical course, imaging, and histopathology. However, a definitive diagnosis is not always possible. Patients and Methods: We analyzed whole exons of SMO, BRAF, PTCH1 and GNAS using next-generation sequencing (NGS) in 18 patients. Results: Of the 6 patients with ameloblastoma, 2 patients had the same missense mutation in BRAF, and 1 patient with peripheral ameloblastoma had a missense mutation in PTCH1. Of the 7 patients with odontogenic keratocyst, 4 patients had a missense mutation in PTCH1, 2 patients had missense mutations in BRAF, and 1 patient had a missense mutation in SMO. The patient with odontoma had missense mutations in SMO, BRAF and PTCH1. One patient with cement-osseous dysplasia had missense mutations in SMO and PTCH1. The patient with adenomatoid odontogenic tumor had missense mutations in SMO. Conclusion: Whole exome sequencing of the above genes by NGS would be useful for the differential diagnosis of odontogenic diseases.}, issn = {0258-851X}, URL = {https://iv.iiarjournals.org/content/34/6/3233}, eprint = {https://iv.iiarjournals.org/content/34/6/3233.full.pdf}, journal = {In Vivo} }