Whole-exome sequencing of oral epithelial dysplasia samples reveals an association with new genes

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dc.coverageDOI: 10.1590/1807-3107BOR-2023.VOL37.0016
dc.creatorAdorno-Farias, Daniela
dc.creatorDos Santos, Jean Nunes
dc.creatorGonzález-Arriagada, Wilfredo
dc.creatorTarquinio, Sandra
dc.creatorPalominos, Rodrigo Alberto Santibáñez
dc.creatorMartín, Alberto Jesus Martín
dc.creatorFernandez-Ramires, Ricardo
dc.date2023
dc.date.accessioned2025-11-18T19:42:26Z
dc.date.available2025-11-18T19:42:26Z
dc.description<p>The genetic basis of oral epithelial (OED) is unknown, and there is no reliable method for evaluating the risk of malignant transformation. Somatic mutations are responsible for the transformation of dysplastic mucosa to invasive cancer. In addition, these genomic variations could represent objective markers of the potential for malignant transformation. We performed whole-exome sequencing of 10 OED samples from Brazilian and Chilean patients. Using public genetic repositories, we identified 41 deleterious variants that could produce high-impact changes in the amino acid structures of 38 genes. In addition, the variants were filtered according to normal skin and Native American genome profiles. Finally, 13 genes harboring 15 variants were found to be exclusively related to OED. High-grade epithelial dysplasia samples showed a tendency to accumulate highly deleterious variants. We observed that 62% of 13 OED genes identified in our study were also found in head and neck squamous cell carcinoma. Among the shared genes, eight were not identified in oral squamous cell carcinoma. To our knowledge, we have described for the first time 13 genes that are found in OED in a Latin American population, of which five genes have already been observed in oral squamous cell carcinoma. Through this study, we identified genes that may be related to basal biological functions in OED.</p>eng
dc.descriptionThe genetic basis of oral epithelial (OED) is unknown, and there is no reliable method for evaluating the risk of malignant transformation. Somatic mutations are responsible for the transformation of dysplastic mucosa to invasive cancer. In addition, these genomic variations could represent objective markers of the potential for malignant transformation. We performed whole-exome sequencing of 10 OED samples from Brazilian and Chilean patients. Using public genetic repositories, we identified 41 deleterious variants that could produce high-impact changes in the amino acid structures of 38 genes. In addition, the variants were filtered according to normal skin and Native American genome profiles. Finally, 13 genes harboring 15 variants were found to be exclusively related to OED. High-grade epithelial dysplasia samples showed a tendency to accumulate highly deleterious variants. We observed that 62% of 13 OED genes identified in our study were also found in head and neck squamous cell carcinoma. Among the shared genes, eight were not identified in oral squamous cell carcinoma. To our knowledge, we have described for the first time 13 genes that are found in OED in a Latin American population, of which five genes have already been observed in oral squamous cell carcinoma. Through this study, we identified genes that may be related to basal biological functions in OED.spa
dc.identifierhttps://investigadores.uandes.cl/en/publications/f6a146a4-480b-42f6-968d-c06d8bff65d2
dc.identifier.urihttps://repositorio.uandes.cl/handle/uandes/52342
dc.languageeng
dc.rightsinfo:eu-repo/semantics/openAccess
dc.sourcevol.37 (2023)
dc.subjectLeukoplakia
dc.subjectWhole Exome Sequencing
dc.subjectSDG 3 - Good Health and Well-being
dc.titleWhole-exome sequencing of oral epithelial dysplasia samples reveals an association with new geneseng
dc.typeArticleeng
dc.typeArtículospa
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