| Autor: |
Adorno-Farias D; Universidad de Chile, School of Dentistry, Oral Medicine and Pathology Department, Santiago, Chile., Santos JND; Universidade Federal da Bahia - UFBA, School of Dentistry, Laboratory of Oral Surgical Pathology, Salvador, BA, Brazil., González-Arriagada W; Universidad de los Andes, UANDES, School of Dentistry, Biomedical Research and Innovation Center, Santiago, Chile., Tarquinio S; Universidade Federal de Pelotas - UFPel, School of Dentistry, Diagnostic Centre for Oral Diseases, Pelotas, RS, Brazil., Santibáñez Palominos RA; Universidad Mayor - UMAYOR, School of Sciences, Center for Genomics and Bioinformatics, Network Biology Laboratory, Santiago, Chile., Martín Martín AJ; Universidad San Sebastián, School of Engineering, Architecture and Design, Scientific and Technological Center of Excellence Science & Life, Biological Networks Laboratory, Santiago, Chile., Fernandez-Ramires R; Universidad Mayor - UMAYOR, Center for Precision Oncology, Santiago, Chile. |
| Abstrakt: |
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. |
