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

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

dc.contributor.author	Shi, Yueqi	es
dc.contributor.author	Li, Mengyu	es
dc.contributor.author	Yu, Yejia	es
dc.contributor.author	Zhou, Yuqiong	es
dc.contributor.author	Wang, Shaoyi	es
dc.date.accessioned	2023-06-16T08:36:42Z
dc.date.available	2023-06-16T08:36:42Z
dc.date.issued	2021	es
dc.identifier.citation	Shi, Y., Li, M., Yu, Y., Zhou, Y., & Wang, S. (2021). Whole exome sequencing and system biology analysis support the «two-hit» mechanism in the onset of Ameloblastoma. En Medicina Oral Patología Oral y Cirugia Bucal (pp. e510-e517). Medicina Oral, S.L. https://doi.org/10.4317/medoral.24385	es
dc.identifier.uri	https://hdl.handle.net/10550/88052
dc.description.abstract	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. 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. We identified a total of 70 rare and severe somatic mutations. We found BRAF V600E on all four patients, supporting previous discovery. HSAP4 was also hit by two missense mutations on two different patients. By applying Weighted Gene Co-expression Network Analysis on expression data of odontoblast, ameloblast, and Ameloblastoma, we found a proliferation-associated gene module that was significantly disrupted in tumor tissues. Each patient carried at least two rare, severe somatic mutations affecting genes within this module, including HSPA4, GNAS, CLTC, NES, and KMT2D. All these mutations had a ratio of variant-support reads lower than BRAF V600E, indicating that they occurred later than BRAF V600E. We suggest that a severe somatic mutation on the gene network of cell proliferation other than BRAF V600E, namely second hit, may contribute to the tumorigenesis of Ameloblastoma.	es
dc.subject	oral cancer	es
dc.subject	awareness	es
dc.subject	risk factors	es
dc.subject	surveys and questionnaires	es
dc.subject	spain	es
dc.title	Whole exome sequencing and system biology analysis support the "two-hit" mechanism in the onset of Ameloblastoma	es
dc.type	journal article	es_ES
dc.subject.unesco	UNESCO:CIENCIAS MÉDICAS	es
dc.identifier.doi	10.4317/medoral.24385	es
dc.type.hasVersion	VoR	es_ES
dc.identifier.url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8254878/