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Detection of NOTCH1 mutations in paraffin samples in patients with potentially malignant lesions
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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medicina Oral S.L.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10062466/ https://www.ncbi.nlm.nih.gov/pubmed/37008245 http://dx.doi.org/10.4317/jced.60293 |
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author | Baus-Domínguez, Maria Gómez-Díaz, Raquel Martín-Lozano, Guiomar Iglesias-Martín, Fernando Gutiérrez-Pérez, José-Luis Torres-Lagares, Daniel Serrera-Figallo, María-Ángeles Gutiérrez-Corrales, Aida |
author_facet | Baus-Domínguez, Maria Gómez-Díaz, Raquel Martín-Lozano, Guiomar Iglesias-Martín, Fernando Gutiérrez-Pérez, José-Luis Torres-Lagares, Daniel Serrera-Figallo, María-Ángeles Gutiérrez-Corrales, Aida |
author_sort | Baus-Domínguez, Maria |
collection | PubMed |
description | 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 AND METHODS: 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 words:Oral cancer, NOTCH1, mutations. |
format | Online Article Text |
id | pubmed-10062466 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Medicina Oral S.L. |
record_format | MEDLINE/PubMed |
spelling | pubmed-100624662023-03-31 Detection of NOTCH1 mutations in paraffin samples in patients with potentially malignant lesions Baus-Domínguez, Maria Gómez-Díaz, Raquel Martín-Lozano, Guiomar Iglesias-Martín, Fernando Gutiérrez-Pérez, José-Luis Torres-Lagares, Daniel Serrera-Figallo, María-Ángeles Gutiérrez-Corrales, Aida J Clin Exp Dent Research 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 AND METHODS: 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 words:Oral cancer, NOTCH1, mutations. Medicina Oral S.L. 2023-03-01 /pmc/articles/PMC10062466/ /pubmed/37008245 http://dx.doi.org/10.4317/jced.60293 Text en Copyright: © 2023 Medicina Oral S.L. https://creativecommons.org/licenses/by/2.5/This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Baus-Domínguez, Maria Gómez-Díaz, Raquel Martín-Lozano, Guiomar Iglesias-Martín, Fernando Gutiérrez-Pérez, José-Luis Torres-Lagares, Daniel Serrera-Figallo, María-Ángeles Gutiérrez-Corrales, Aida Detection of NOTCH1 mutations in paraffin samples in patients with potentially malignant lesions |
title | Detection of NOTCH1 mutations in paraffin samples in patients with potentially malignant lesions |
title_full | Detection of NOTCH1 mutations in paraffin samples in patients with potentially malignant lesions |
title_fullStr | Detection of NOTCH1 mutations in paraffin samples in patients with potentially malignant lesions |
title_full_unstemmed | Detection of NOTCH1 mutations in paraffin samples in patients with potentially malignant lesions |
title_short | Detection of NOTCH1 mutations in paraffin samples in patients with potentially malignant lesions |
title_sort | detection of notch1 mutations in paraffin samples in patients with potentially malignant lesions |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10062466/ https://www.ncbi.nlm.nih.gov/pubmed/37008245 http://dx.doi.org/10.4317/jced.60293 |
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