Detection of NOTCH1 mutations in paraffin samples in patients with potentially malignant lesions.
J Clin Exp Dent
; 15(3): e177-e186, 2023 Mar.
Article
em En
| MEDLINE
| ID: mdl-37008245
ABSTRACT
Background:
On certain occasions, oral cancer is preceded by potentially malignant lesions. The degree of dysplasia in Guinea pigs attempts to determine the risk of developing a malignant lesion. The search for genetic mutations, biomarkers, as a more truthful and reproducible diagnostic tool, tries to fill the gaps in the anatomopathological study. In this line, the present retrospective case-control study is based on the detection of known mutations of the NOTCH1 gene in biopsied samples of potentially malignant lesions from 22 patients who attend the Oral and Maxillofacial Surgery service of the Virgen del Rocío University Hospital. Material andMethods:
DNA extraction after dewaxing of the samples using the Minikit QIAamp DNA FFPE tissue extraction kit with extraction kit (reference 56404) of QIAGEN. Subsequently, with the DNA obtained, 4 amplification reactions were carried out using enzyme polymerase. Before sequencing the samples, they were purified with the ExoSAP-IT for PCR product cleaning kit of the INVITROGEN brand. Finally, to detect somatic mutations in NOTCH1, TaqMan Mutation Detection Assays was used and for the analysis of mutations we worked with the Mutation Detector software.Results:
The mutation for NOTCH1 is not detected, the studied sample does not present the mutation, or it is below the limits of detection of the software.Conclusions:
In the clinical setting of the sample, the NOTCH1 mutation seems to be not very frequent, although NOTCH1 has been described as a gene related to oral cancer in other geographical settings. Key wordsOral cancer, NOTCH1, mutations.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Idioma:
En
Revista:
J Clin Exp Dent
Ano de publicação:
2023
Tipo de documento:
Article