Search results for "Cancer susceptibility"

showing 10 items of 11 documents

MicroRNAs and Drinking : Association between the Pre-miR-27a rs895819 Polymorphism and Alcohol Consumption in a Mediterranean Population

2016

Recently, microRNAs (miRNA) have been proposed as regulators in the different processes involved in alcohol intake, and differences have been found in the miRNA expression profile in alcoholics. However, no study has focused on analyzing polymorphisms in genes encoding miRNAs and daily alcohol consumption at the population level. Our aim was to investigate the association between a functional polymorphism in the pre-miR-27a (rs895819 A>G) gene and alcohol consumption in an elderly population. We undertook a cross-sectional study of PREvención con DIeta MEDiterránea (PREDIMED)-Valencia participants (n = 1007, including men and women aged 67 7 years) and measured their alcohol consumption (to…

0301 basic medicineMaleMicro RNAsMediterranean dietCross-sectional studyPhysiologyAlcoholmiR27aMediterraneanCOLORECTAL-CANCERFUNCTIONAL POLYMORPHISMlcsh:Chemistrychemistry.chemical_compoundPolymorphism (computer science)GenotypeMedicineMolecular geneticslcsh:QH301-705.5SpectroscopyGeneticsRISKeducation.field_of_studyMediterranean RegionalcoholGeneral MedicineMiddle AgedComputer Science ApplicationsmicroRNAsDrinking of alcoholic beveragesSINGLE NUCLEOTIDE POLYMORPHISMSMENDELIAN RANDOMIZATIONMir27aConsum d'alcoholFemaleAlcoholAlcohol DrinkingGenotypePopulationGENETIC VARIANTHEART-DISEASEPolymorphism Single NucleotideCatalysisArticleGenètica molecularInorganic Chemistry03 medical and health sciencesMediterranean cookingUSE DISORDERSmicroRNACuina mediterràniaHumansPhysical and Theoretical ChemistryeducationMolecular BiologyAgedCHINESE POPULATIONbusiness.industryOrganic ChemistrymicroRNAs; alcohol; miR27a; Mediterraneanmedicine.diseaseObesityMicroRNAs030104 developmental biologyCross-Sectional Studieschemistrylcsh:Biology (General)lcsh:QD1-999GASTRIC-CANCER SUSCEPTIBILITYbusiness
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A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy

2018

Abstract Introduction Breast cancer (BC) in men is a rare disease, whose etiology appears to be associated with genetic factors. Inherited mutations in BRCA1/2 genes account for about 10–15% of all cases. FANCM, functionally linked to BRCA1/2, has been suggested as a novel BC susceptibility gene. Our aim was to test if FANCM germline mutations could further explain male BC (MBC) susceptibility. Methods We screened the entire coding region of FANCM in 286 MBCs by a multi-gene panel analysis, and compared these data with available whole exome sequencing data from 415 men used as population controls. Moreover, we genotyped the two most frequent FANCM mutations (c.5101C>T and c.5791C>T) in 506 …

0301 basic medicineMaleMutation rateSettore MED/06 - Oncologia MedicaDNA Helicasemedicine.disease_causeBRCA1/2; Breast cancer susceptibility; FANCM; Germline mutations; Male breast cancer; Adult; Aged; Aged 80 and over; Biomarkers Tumor; Breast Neoplasms Male; Case-Control Studies; DNA Helicases; Genetic Predisposition to Disease; Genotype; Germ-Line Mutation; Humans; Italy; Male; Middle Aged; Risk Factors; Whole Genome Sequencing; Young Adult; Surgery0302 clinical medicineFANCMRisk Factorshemic and lymphatic diseasesGermline mutationGenotypeBRCA1/2; Breast cancer susceptibility; FANCM; Germline mutations; Male breast cancer; SurgeryFANCMMutation frequencyGeneticsAged 80 and overeducation.field_of_studyMutationGeneral MedicineMiddle AgedItaly030220 oncology & carcinogenesisMale breast cancerCase-Control StudieHumanAdultcongenital hereditary and neonatal diseases and abnormalitiesGenotypePopulationBreast Neoplasms Male03 medical and health sciencesYoung AdultGermline mutationBRCA1/2medicineBiomarkers TumorHumansGenetic Predisposition to DiseaseeducationGermline mutationsGerm-Line MutationAgedBreast cancer susceptibilityWhole Genome Sequencingbusiness.industryRisk FactorDNA Helicasesnutritional and metabolic diseasesmedicine.diseaseMale breast cancer030104 developmental biologyCase-Control StudiesSurgerybusiness
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Genetic Testing for Melanoma—Where Are We With Moderate-Penetrance Genes?

2016

International audience

0301 basic medicinePreimplantation genetic haplotypingSkin Neoplasmscdkn2aPenetranceDermatologypolicy statement update03 medical and health sciencesCDKN2ApredisposesmedicineHumansGenetic Predisposition to DiseaseGenetic Testingmitf germline mutationGeneMelanomaComputingMilieux_MISCELLANEOUSGenetic testingriskGeneticsmedicine.diagnostic_testbusiness.industryMelanomamedicine.diseaseMicrophthalmia-associated transcription factorcancer susceptibilityPenetrance030104 developmental biologyMutation (genetic algorithm)Mutationbusiness[ SDV.MHEP.DERM ] Life Sciences [q-bio]/Human health and pathology/Dermatologyamerican-society[SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
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The diagnosis and management of gastric cancer: Expert discussion and recommendations from the 12th ESMO/World Congress on Gastrointestinal Cancer, B…

2011

Well-recognized experts in the field of gastric cancer discussed during the 12th European Society Medical Oncology (ESMO)/World Congress Gastrointestinal Cancer (WCGIC) in Barcelona many important and controversial topics on the diagnosis and management of patients with gastric cancer. This article summarizes the recommendations and expert opinion on gastric cancer. It discusses and reflects on the regional differences in the incidence and care of gastric cancer, the definition of gastro-esophageal junction and its implication for treatment strategies and presents the latest recommendations in the staging and treatment of primary and metastatic gastric cancer. Recognition is given to the ne…

Continuous infusionComputer assisted radiotherapyFolic acidFluorodeoxyglucose f 18Gimeracil plus oteracil potassium plus tegafurInfection controlIntensity modulated radiation therapyDocetaxelCancer stagingMetastatic gastric cancerRisk FactorsPrevalenceDrug fatalityOverall survivalNeoplasm MetastasisPriority journalddc:616Conference paperdigestive oral and skin physiologyFolinic acidHematologyPrognosisOxaliplatinNuclear magnetic resonance imagingBevacizumabSurvival RateOncologyCyanocobalaminPractice Guidelines as TopicDrug dose reductionFluorouracilEsophageal adenocarcinomaHumanPositron emission tomographymedicine.medical_specialtyNeutropeniaStomach cancerStomach neoplasmsMEDLINESide effectStomach adenocarcinomaPatient careIrinotecanHelicobacter infectionPrimary tumorEndoscopic echographyAdvanced cancerEndoscopic mucosal resectionComputer assisted tomographyStomach Neoplasms/*diagnosis/pathology/*therapymedicineHumansGenetic Predisposition to DiseaseGastrointestinal cancerPhase 3 clinical trial (topic)Intensive care medicineSurvival ratePlaceboCapecitabineEpirubicinCa 19-9 antigenStomach Neoplasms/diagnosis/pathology/therapyHelicobacter pyloribusiness.industryCancerTrastuzumabCardiovascular riskmedicine.diseaseCancer susceptibilitydigestive system diseasesSurgeryClinical trialMetastasis potentialExpert opinionMeta analysis (topic)Cancer adjuvant therapyCarcinoembryonic antigenLower esophagus sphincterCisplatinCaloric intakebusinessCancer incidenceRegional differencesAnnals of Oncology
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Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.

2014

Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regressionmodels adjusting for stud…

Genotyping TechniquesResearch Support U.S. Gov't P.H.S.CASP8 and FADD-Like Apoptosis Regulating ProteinGenome-wide association studyP.H.S.Medical and Health SciencesBreast and Ovarian Cancer Susceptibility (BOCS) StudyMedizinische FakultätGenetics(clinical)Non-U.S. Gov'tGenetics (clinical)GeneticsGenetics & HeredityvariantsCaspase 8Research Support Non-U.S. Gov'tAssociation Studies ArticlesGeneral MedicineBiological Sciencesddc:Chromosomes Human Pair 2kConFab InvestigatorsFemaleGENICA NetworkAustralian Ovarian Cancer Study GroupEuropean Continental Ancestry GroupNon-P.H.S.Single-nucleotide polymorphismBreast Neoplasms-BiologyResearch SupportPolymorphism Single NucleotideWhite PeopleN.I.H.Breast cancerResearch Support N.I.H. ExtramuralSDG 3 - Good Health and Well-beingmedicineGeneticsJournal ArticleHumansGenetic Predisposition to Diseaseddc:610geneGenotyping TechniquesGenotypingMolecular BiologyGenetic associationdiseaseExtramuralProteinsOdds ratiomedicine.diseasesusceptibility lociMinor allele frequencyCase-Control Studiesgenome-wide associationenhancersU.S. Gov'tcasp8Research Support U.S. Gov't Non-P.H.S.Genome-Wide Association Study
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Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy

2012

Pancreatic adenocarcinoma (PC) is the third most common cancer associated with BRCA mutations. Most notice has been given to BRCA2, while the association between BRCA1 and PC is less widely reported. Recently, PALB2 has been implicated in both PC and breast cancer (BC) susceptibility. We selected 29 Italian PC patients from a case-control study of PC according to their personal and family history of both PC and breast/ovarian cancer (BC/OC) and tested them for presence of germline mutations in BRCA1, BRCA2 and PALB2. We identified no germline mutations or deletions in PALB2, but detected 7 BRCA mutations (4 in BRCA1 and 3 in BRCA2). These findings suggest that PALB2 does not play a major ro…

MaleCancer Researchendocrine system diseasesSettore MED/06 - Oncologia MedicaBRCAGermlineGermline mutationHereditary breast ovarian cancer syndrome (HBOC)skin and connective tissue diseasesGenetics (clinical)Nuclear ProteinOvarian NeoplasmsAged 80 and overGeneticseducation.field_of_studyBRCA1 ProteinPancreatic NeoplasmNuclear ProteinsMiddle Agedfemale genital diseases and pregnancy complicationsPedigreeItalyOncologyAdenocarcinomaFemaleCase-Control StudieFanconi Anemia Complementation Group N ProteinPancreatic cancer susceptibility; BRCA; PALB2; Hereditary breast ovarian cancer syndrome (HBOC); Germline mutationBreast NeoplasmHumanAdultPALB2PopulationBreast NeoplasmsAdenocarcinomaGermline mutationBreast cancerGeneticPancreatic cancerGeneticsmedicineHumansGenetic Predisposition to DiseaseeducationGerm-Line MutationAgedBRCA2 ProteinTumor Suppressor Proteinbusiness.industryTumor Suppressor ProteinsOvarian NeoplasmCancermedicine.diseasePancreatic cancer susceptibilityPancreatic NeoplasmsCase-Control StudiesPALB2businessGene DeletionFamilial Cancer
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Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior

2010

Contains fulltext : 89305.pdf (Publisher’s version ) (Closed access) Smoking is a common risk factor for many diseases. We conducted genome-wide association meta-analyses for the number of cigarettes smoked per day (CPD) in smokers (n = 31,266) and smoking initiation (n = 46,481) using samples from the ENGAGE Consortium. In a second stage, we tested selected SNPs with in silico replication in the Tobacco and Genetics (TAG) and Glaxo Smith Kline (Ox-GSK) consortia cohorts (n = 45,691 smokers) and assessed some of those in a third sample of European ancestry (n = 9,040). Variants in three genomic regions associated with CPD (P < 5 x 10(-8)), including previously identified SNPs at 15q25 repre…

MaleNetherlands Twin Register (NTR)Lung NeoplasmsSingle-nucleotide polymorphismGenome-wide association studyAetiology screening and detection [ONCOL 5]Receptors NicotinicGenetic analysisArticleMolecular epidemiology [NCEBP 1]Cohort Studies03 medical and health sciences0302 clinical medicineSDG 3 - Good Health and Well-beingOdds RatioGeneticsmedicine/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_HumansCYP2A6Lung cancerAlleles030304 developmental biologyGenetics0303 health sciencesbiologyCHRNA6CHRNA5Hormonal regulation [IGMD 6]SmokingGenetic VariationGenomicsTobacco Use DisorderOdds ratiomedicine.disease3. Good healthPhenotypeEvaluation of complex medical interventions [NCEBP 2]genome-wide association nicotinic acetylcholine-receptors lung-cancer susceptibility locus molecular-genetics heavy smoking adult twins dependence genes snpsbiology.protein/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleAryl Hydrocarbon Hydroxylases030217 neurology & neurosurgeryGenome-Wide Association Study
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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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Insight into genetic susceptibility to male breast cancer by multigene panel testing: results from a multicenter study in Italy

2019

Breast cancer (BC) in men is rare and genetic predisposition is likely to play a relevant role in its etiology. Inherited mutations in BRCA1/2 account for about 13% of all cases and additional genes that may contribute to the missing heritability need to be investigated. In our study, a well-characterized series of 523 male BC (MBC) patients from the Italian multicenter study on MBC, enriched for non-BRCA1/2 MBC cases, was screened by a multigene custom panel of 50 cancer-associated genes. The main clinical-pathologic characteristics of MBC in pathogenic variant carriers and non-carriers were also compared. BRCA1/2 pathogenic variants were detected in twenty patients, thus, a total of 503 n…

OncologyAdultMaleCancer Researchmedicine.medical_specialtyPALB2Adenomatous Polyposis Coli Proteinmale breast cancerGene mutationBreast Neoplasms MaleDNA GlycosylasesBRCA1/2; cancer susceptibility genes; germline mutations; male breast cancer; multigene panel testing03 medical and health sciencesYoung Adult0302 clinical medicinemultigene panel testingMUTYHMissing heritability problemBRCA1/2Internal medicinemedicineGenetic predispositionHumansGenetic Predisposition to Diseasecancer susceptibility genecancer susceptibility genesskin and connective tissue diseasesCHEK2Genetic Association StudiesAgedAged 80 and overbusiness.industryCase-control studySequence Analysis DNAMiddle Agedmedicine.diseaseCheckpoint Kinase 2germline mutationOncologyItaly030220 oncology & carcinogenesisMale breast cancerCase-Control StudiesMutationgermline mutationsbusinessFanconi Anemia Complementation Group N Protein
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Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

2013

Journal article TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10!-7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10!-8) and BRCA1 mutation carrier (P = 1.1 × 10!-5) breast cancers and altered promot…

TelomeraseMessengerCàncer d'ovariEstrogen receptorAetiology screening and detection [ONCOL 5]0302 clinical medicineBreast cancerRisk FactorsAlternative Splicing; Biomarkers Tumor; Breast Neoplasms; Case-Control Studies; Chromatin; DNA Methylation; Female; Gene Expression Profiling; Genetic Loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Luciferases; Oligonucleotide Array Sequence Analysis; Ovarian Neoplasms; Polymorphism Single Nucleotide; RNA Messenger; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; Risk Factors; Telomerase; Telomere; GeneticsGenotypeBUCCAL CELLSLuciferasesTelomeraseOligonucleotide Array Sequence AnalysisOvarian Neoplasms0303 health sciencesTumorTelòmerReverse Transcriptase Polymerase Chain ReactionGENETIC-VARIATIONCOMMON VARIANTSSingle Nucleotidetert-clptm1l locus; genome-wide association; genetic-variation; susceptibility loci; buccal cells; fibroblasts; common variants; carcinoma; reverse-transcriptase htert; metaanalysisTelomereAetiology screening and detection Immune Regulation [ONCOL 5]Chromatin3. Good healthTumor Markers Biological030220 oncology & carcinogenesisFemaleFIBROBLASTSGenotypeSUSCEPTIBILITY LOCICARCINOMASingle-nucleotide polymorphismBreast NeoplasmsBiologyReal-Time Polymerase Chain ReactionPolymorphism Single NucleotideArticleCàncer de mama03 medical and health sciencesBreast cancerSDG 3 - Good Health and Well-beingTranslational research [ONCOL 3]Ovarian cancermedicineGeneticsBiomarkers TumorHumansGenetic Predisposition to DiseaseRNA MessengerPolymorphismAlleleGENOME-WIDE ASSOCIATIONMETAANALYSIS030304 developmental biologyMolecular epidemiology Aetiology screening and detection [NCEBP 1]Breast cancer susceptibilityHereditary cancer and cancer-related syndromes [ONCOL 1]Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3]Gene Expression ProfilingDNA Methylationmedicine.diseaseMolecular biologyTERT-CLPTM1L LOCUSTelomereMinor allele frequencyAlternative SplicingGenetic LociCase-Control StudiesRNABiomarkersREVERSE-TRANSCRIPTASE HTERTGenome-Wide Association StudyNature genetics
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