Search results for " germline alteration"

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Analysis of Germline Gene Copy Number Variants of Patients with Sporadic Pancreatic Adenocarcinoma Reveals Specific Variations

2013

<b><i>Objectives:</i></b> The rapid fatality of pancreatic cancer is, in large part, the result of diagnosis at an advanced stage in the majority of patients. Identification of individuals at risk of developing pancreatic adenocarcinoma would be useful to improve the prognosis of this disease. There is presently no biological or genetic indicator allowing the detection of patients at risk. Our main goal was to identify copy number variants (CNVs) common to all patients with sporadic pancreatic cancer. <b><i>Methods:</i></b> We analyzed gene CNVs in leukocyte DNA from 31 patients with sporadic pancreatic adenocarcinoma and from 93 matched contr…

OncologyMaleCancer Researchmedicine.medical_specialtySettore MED/06 - Oncologia MedicaGene DosageCancer-associated genesBiologyAdenocarcinomaGene dosagePolymorphism Single NucleotideSensitivity and SpecificityGermlineGermline mutationGermline alterationsPolymorphism (computer science)Internal medicinePancreatic cancermedicinepancreatic adenocarcinomaHumansGenetic Predisposition to DiseaseCopy number variationsCopy-number variationGerm-Line MutationGermline alterationAgedCancer-associated geneCopy number variations; Cancer-associated genes; Germline alterations; Sporadic pancreatic cancerCopy number variationCase-control studyGeneral MedicineDNA NeoplasmMiddle Agedmedicine.diseasePancreatic NeoplasmsSporadic pancreatic cancerOncologyTissue Array AnalysisCase-Control StudiesAdenocarcinomaFemale
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Germline copy number variation in theYTHDC2gene: does it have a role in finding a novel potential molecular target involved in pancreatic adenocarcin…

2014

Abstract: Objective: The vast majority of pancreatic cancers occurs sporadically. The discovery of frequent variations in germline gene copy number can significantly influence the expression levels of genes that predispose to pancreatic adenocarcinoma. We prospectively investigated whether patients with sporadic pancreatic adenocarcinoma share specific gene copy number variations (CNVs) in their germline DNA. Patients and methods: DNA samples were analyzed from peripheral leukocytes from 72 patients with a diagnosis of sporadic pancreatic adenocarcinoma and from 60 controls using Affymetrix 500K array set. Multiplex ligation-dependent probe amplification (MLPA) assay was performed using a s…

Malecopy number variations germline alteration pancreatic cancer susceptibility YTHDC2 geneDNA Copy Number VariationsSettore MED/06 - Oncologia MedicaClinical BiochemistryAdenocarcinomaBiologyGermlinePancreatic cancerDrug DiscoverymedicineHumansGenetic Predisposition to DiseaseMultiplexProspective StudiesMultiplex ligation-dependent probe amplificationCopy-number variationAlleleGeneGerm-Line MutationAgedAdenosine TriphosphatasesAged 80 and overPharmacologyPharmacology. TherapyDNA HelicasesMiddle Agedmedicine.diseaseMolecular biologyPancreatic NeoplasmsCase-Control StudiesMolecular MedicineAdenocarcinomaFemaleMultiplex Polymerase Chain ReactionRNA HelicasesExpert Opinion on Therapeutic Targets
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