Whole exome sequencing and system biology analysis support the "two-hit" mechanism in the onset of Ameloblastoma

2021

Background Ameloblastoma is the most frequent odontogenic tumor. Various evidence has highlighted the role of somatic mutations, including recurrent mutation BRAF V600E, in the tumorigenesis of Ameloblastoma, but the intact genetic pathology remains unknown. Material and Methods We sequenced the whole exome of both tumor tissue and healthy bone tissue from four mandibular ameloblastoma patients. The identified somatic mutations were integrated into Weighted Gene Co-expression Network Analysis on publicly available expression data of odontoblast, ameloblast, and Ameloblastoma. Results We identified a total of 70 rare and severe somatic mutations. We found BRAF V600E on all four patients, sup…