0000000000408538

AUTHOR

Miguel Angel Molina-vila

showing 4 related works from this author

R-Score: A New Parameter to Assess the Quality of Variants’ Calls Assessed by NGS Using Liquid Biopsies

2021

Next-generation sequencing (NGS) has enabled a deeper knowledge of the molecular landscape in non-small cell lung cancer (NSCLC), identifying a growing number of targetable molecular alterations in key genes. However, NGS profiling of liquid biopsies risk for false positive and false negative calls and parameters assessing the quality of NGS calls remains lacking. In this study, we have evaluated the positive percent agreement (PPA) between NGS and digital PCR calls when assessing EGFR mutation status using 85 plasma samples from 82 EGFR-positive NSCLC patients. According to our data, variant allele fraction (VAF) was significantly lower in discordant calls and the median of the absolute va…

Oncologymedicine.medical_specialtyKey genesQH301-705.5BiologyGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciences0302 clinical medicineInternal medicinemedicineDigital polymerase chain reactionBiology (General)Liquid biopsy030304 developmental biology0303 health sciencesGeneral Immunology and MicrobiologyPlasma samplesliquid biopsyvariant callingVariant allelectDNArespiratory systemfiltering3. Good healthEgfr mutation030220 oncology & carcinogenesisNGSVAFNon small cellLinear correlationGeneral Agricultural and Biological SciencesBiology
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EGFR mutant cfDNA and CTC detection as biomarkers in patients diagnosed with advanced non-small cell lung cancer.

2016

e23039Background: One of the most promising developments in translational cancer has been the emergence of liquid biopsy as a non-invasive biomarker. CTCs and cfDNA offer valuable prognostic and pr...

Cancer Researchbusiness.industryMutantCancermedicine.diseaseOncologyCancer researchMedicineBiomarker (medicine)In patientNon small cellLiquid biopsybusinessLung cancerJournal of Clinical Oncology
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Comprehensive cross-platform comparison of methodologies for noninvasive EGFR mutation testing: Results of the RING observational trial.

2020

e21518 Background: Several platforms for non-invasive EGFR testing are currently used in the clinical setting, with sensitivities ranging from 30 to 100%. Comparison studies in prospective cohorts remain limited and reports evaluating mutant allelic fractions (MAFs) are particularly scarce. The RING observational trial (ClinicalTrials.gov identifier NCT03363139) was designed to comprehensively analyze the concordance between methodologies for EGFR mutation detection in blood. Methods: Seventy-two EGFR mutant NSCLC patients were enrolled in the trial. Plasma samples were prospectively collected at progression to first line Tyrosine Kinase Inhibitor and tested for EGFR mutations by 7 methodo…

OncologyCancer ResearchRing (mathematics)medicine.medical_specialtyOncologyEgfr mutationbusiness.industryObservational TrialInternal medicinemedicinebusiness
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Comprehensive cross-platform comparison of methods for non-invasive EGFR mutation testing : results of the RING observational trial

2020

Plasma samples from 72 EGFR‐mutant advanced NSCLC patients, collected upon progression to first‐line TKI, were analyzed by seven methodologies (two NGS‐based methods, three high‐sensitivity PCR‐based platforms, and two FDA‐approved methods). Our study demonstrates a good to excellent agreement between methodologies and supports the use of liquid biopsies for therapy decision‐making.

0301 basic medicineOncologyMaleCancer Researchcell lung cancerIntraclass correlationBiopsyDNA Mutational Analysisnon-small cell lung cancer (NSCLC)Tyrosine kinase inhibitorTyrosine-kinase inhibitorCohort Studies*circulating free DNAT790M0302 clinical medicinetyrosine kinase inhibitorGene FrequencyOsimertinibProspective cohort studyCàncernon‐small‐cell lung cancerCirculating free DNARC254-282Research ArticlesSequence DeletionAged 80 and overNeoplasms. Tumors. Oncology. Including cancer and carcinogensHigh-Throughput Nucleotide Sequencingnon&#8208General MedicineDNA NeoplasmExonsMiddle AgedErbB ReceptorsEpidermal growth factor receptor (EGFR) NGS Non-small cell lung cancer (NSCLC) PCR Tyrosine Kinase Inhibitor (TKI) circulating free DNA (cfDNA) osimertinibOncology030220 oncology & carcinogenesisosimertinibNGSMolecular Medicinesmall&#8208FemaleResearch Article*NGSAdultmedicine.medical_specialtymedicine.drug_classSensitivity and Specificity03 medical and health sciencesPredictive Value of TestsInternal medicineGeneticsmedicineHumansAged*non-small-cell lung cancerbusiness.industryEpidermal growth factor receptorNon invasive*epidermal growth factor receptormedicine.disease*tyrosine kinase inhibitorrespiratory tract diseases030104 developmental biologyEgfr mutationPulmonsMutationcirculating free DNAbusinessepidermal growth factor receptorNon-small-cell lung cancer*osimertinibOsimertinib
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