TY - JOUR
T1 - Whole-exome sequencing of oral epithelial dysplasia samples reveals an association with new genes
AU - Adorno-Farias, Daniela
AU - Santos, Jean Nunes Dos
AU - González-Arriagada, Wilfredo
AU - Tarquinio, Sandra
AU - Santibáñez Palominos, Rodrigo Alberto
AU - Martín Martín, Alberto Jesus
AU - Fernandez-Ramires, Ricardo
PY - 2023
Y1 - 2023
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85148250089&partnerID=8YFLogxK
U2 - 10.1590/1807-3107bor-2023.vol37.0016
DO - 10.1590/1807-3107bor-2023.vol37.0016
M3 - Article
C2 - 36790257
AN - SCOPUS:85148250089
SN - 1517-7491
VL - 37
SP - e016
JO - Pesquisa odontologica brasileira = Brazilian oral research
JF - Pesquisa odontologica brasileira = Brazilian oral research
ER -