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http://hdl.handle.net/1843/82900| Type: | Artigo de Periódico |
| Title: | Interrogation of cancer hotspot mutations in calcifying cystic odontogenic tumor |
| Authors: | Sílvia Ferreira de Sousa Rennan Garcias Moreira Ricardo Santiago Gomez Carolina Cavaliéri Gomes |
| Abstract: | To simultaneously interrogate in calcifying cystic odonto genic tumor (CCOT) about 2,800 COSMIC mutations in a panel of important oncogenes and tumor suppressor genes. Study Design: 3 samples of CCOT were analyzed. It was used the Ion AmpliSeq Cancer Hotspot Panel v2 to interrogate mutations at 50 tumor suppressor genes and oncogenes by target next generation sequencing on the Ion Personal Genome Machine (PGM) System. Reads were aligned to genome (hg19), variants were called using Ion Reporter Software and false variants were excluded after assessment at the Integrative Genomics Viewer (IGV). Results: The only pathogenic mutation detected in 2 out of 3 CCOT was in b-Catenin gene, CTNNB1 c.98C>T. This mutation leads to substitution from serine to phenylalanine at codon 33 of b-Catenin, resulting in its stabilization and oncogenic activation. No other pathogenic mutation interrogated was detected, including the recurrent mutations BRAFV600E, recently described in ameloblastomas or KRASG12V, recently described in adenomatoid odontogenic tumors. Conclusion: b-Catenin gene mutation persists as the pivotal alteration reported in CCOTs. This study gives further support to the concept that odontogenic tumors do not share a common genetic event and each tumor type shows a specific molecular profile. |
| Subject: | Mutation Genes Odontogenic tumors Odontogenic cyst, calcifying Carcinogenesis |
| language: | eng |
| metadata.dc.publisher.country: | Brasil |
| Publisher: | Universidade Federal de Minas Gerais |
| Publisher Initials: | UFMG |
| metadata.dc.publisher.department: | FAO - DEPARTAMENTO DE CLÍNICA ICB - DEPARTAMENTO DE PATOLOGIA |
| Rights: | Acesso Restrito |
| metadata.dc.identifier.doi: | https://doi.org/10.1016/j.oooo.2017.05.393 |
| URI: | http://hdl.handle.net/1843/82900 |
| Issue Date: | Aug-2017 |
| metadata.dc.url.externa: | https://www.oooojournal.net/article/S2212-4403(17)30692-2/fulltext |
| metadata.dc.relation.ispartof: | Oral surgery, Oral medicine, Oral Pathology and Oral Radiology |
| Appears in Collections: | Artigo de Evento |
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