Search results for "Methylation analysis"

showing 4 items of 4 documents

Clinical validation of 13-gene DNA methylation analysis in oral brushing samples for detection of oral carcinoma: an Italian multicenter study

2021

Background The aim of this Italian multicenter study was to evaluate the diagnostic performance of a minimally invasive method for the detection of oral squamous cell carcinoma (OSCC) based on 13-gene DNA methylation analysis in oral brushing samples. Methods Oral brushing specimens were collected in 11 oral medicine centers across Italy. Twenty brushing specimens were collected by each center, 10 from patients with OSCC, and 10 from healthy volunteers. DNA methylation analysis was performed in blindness, and each sample was determined as positive or negative based on a predefined cutoff value. Results DNA amplification failed in 4 of 220 (1.8%) samples. Of the specimens derived from patien…

0301 basic medicinemedicine.medical_specialtyBisulfite sequencingalgorithm; bisulfite sequencing; diagnostic test; oral brushing; oral squamous cell carcinoma; quantitative DNA methylation analysisGastroenterologyoral brushing03 medical and health sciences0302 clinical medicineInternal medicineHealthy volunteersCarcinomamedicineHumansquantitative DNA methylation analysisMouth neoplasmalgorithmbusiness.industryDNA Methylationmedicine.diseaseDna amplificationoral squamous cell carcinomastomatognathic diseases030104 developmental biologyItalyOtorhinolaryngologyMulticenter studyHead and Neck Neoplasmsdiagnostic test030220 oncology & carcinogenesisDNA methylationCarcinoma Squamous Cellbisulfite sequencingMouth NeoplasmsbusinessOral medicine
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Sequenom MassARRAY Technology for the Analysis of DNA Methylation

2016

Abstract DNA methylation is one of several epigenetic mechanisms that cells use to control gene expression and is involved in the development of different pathologies such as obesity, Alzheimer's, and cancer. In this chapter, we have analyzed in depth the Sequenom MassARRAY® technology for the analysis of DNA methylation with special emphasis on its applications in clinical practice. In recent years, the Sequenom EpiTYPER® system technology has emerged as a novel technique for methylation analysis that offers a high range of options with great performance and several advantages.

Clinical PracticeNovel techniqueMethylation analysisDNA methylationEpigeneticsBiologyBioinformatics
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Clinical Validation of 13-gene DNA Methylation Analysis from Oral Brushing: A Non Invasive Sampling Procedure for Early Detection of Oral Squamous Ce…

2019

In a recent study our research group described a non-invasive sampling procedure based on [...]

Oncologymedicine.medical_specialtyoral brushing;oral squamous cell carcinoma; quantitative DNA methylation analysisbusiness.industryEarly detectionSampling (statistics)oral brushingoral squamous cell carcinomaInternal medicineDNA methylationMedicinequantitative DNA methylation analysisBasal cellGene DNA Methylation Analysis Oral Brushing Non Invasive Sampling Early Detection Oral Squamous Cell CarcinomabusinessNon invasive samplingGeneThe XV National and III International Congress of the Italian Society of Oral Pathology and Medicine
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Testing for Lynch Syndrome in Endometrial Carcinoma: From Universal to Age-Selective MLH1 Methylation Analysis

2022

Simple Summary International guidelines recommend universal screening of endometrial carcinoma patients for Lynch syndrome, a hereditary cancer predisposition syndrome. Screening is based on mismatch repair protein immunohistochemistry and reflex MLH1 methylation analysis to exclude the likely sporadic cases of MMR deficiency. As sporadic MLH1 protein loss is common in endometrial carcinoma, the ability to target methylation testing would save efforts and costs. We discovered that limiting methylation testing to patients under 65 years would have significantly reduced the testing effort while maintaining a low false negative rate for MLH1-LS detection (0% and 3% in our clinic and registry-b…

perinnölliset tauditcongenital hereditary and neonatal diseases and abnormalitiesCancer Researchseulontatutkimusendometrial carcinoma; Lynch syndrome screening; MLH1 immunohistochemistry; <i>MLH1</i> methylation analysisMICROSATELLITE INSTABILITYMUTATIONS3122 Cancersikäryhmätnutritional and metabolic diseasesendometrial carcinomaCANCERdigestive system diseasesREGIONDNA-metylaatioMLH1 methylation analysiskohdunrungon syöpäOncologyLynch syndrome screeningMLH1 immunohistochemistryLynchin oireyhtymäCancers
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