0000000000699849

AUTHOR

P. Peterlongo

showing 4 related works from this author

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

2013

Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborat…

signaling pathwayGenotypingGenotypeSingle-nucleotide polymorphismGenome-wide association studyBreast NeoplasmsconsortiumBiologyBreast Neoplasms; Case-Control Studies; Cooperative Behavior; Female; Gene-Environment Interaction; Genetic Loci; Genome-Wide Association Study; Genotype; Humans; Meta-Analysis as Topic; Polymorphism Single Nucleotide; Risk Factors; Genetic Predisposition to Disease; GeneticsPolymorphism Single NucleotideArticle03 medical and health sciences0302 clinical medicineBreast cancerSDG 3 - Good Health and Well-beingMeta-Analysis as TopicRisk FactorsGenotypecommon variantsexpressionGeneticsmedicineHumansGenetic Predisposition to DiseasePolymorphismCooperative BehaviorgeneGenotypinghormone-related protein030304 developmental biologyGenetic associationGenetics0303 health sciencesBreast cancer susceptibilityCancerSingle Nucleotidemedicine.diseaseconfer susceptibilitysusceptibility loci3. Good health14q24.1 rad51l1TOX3Genetic Loci030220 oncology & carcinogenesisCase-Control Studiesgenome-wide associationFemaleGene-Environment InteractionGenome-Wide Association Study
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Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility

2013

In the last four years, Genome-Wide Association Studies (GWAS) have identified sixteen low-penetrance polymorphisms on fourteen different loci associated with colorectal cancer (CRC). Due to the low risks conferred by known common variants, most of the 35% broad-sense heritability estimated by twin studies remains unexplained. Recently our group performed a case-control study for eight Single Nucleotide Polymorphisms (SNPs) in 4 CRC genes. The present investigation is a followup of that study. We have genotyped six SNPs that showed a positive association and carried out a meta-analysis based on eight additional studies comprising in total more than 8000 cases and 6000 controls. The estimate…

Linkage disequilibriumGenotypeReparació de l'ADNlcsh:MedicineDNA repairGenome-wide association studySingle-nucleotide polymorphismBiologyGenetic polymorphismsDNA Mismatch RepairPolymorphism Single NucleotideDNA Glycosylases03 medical and health sciences0302 clinical medicineMUTYHCàncer colorectalHumansGenetic Predisposition to Diseaselcsh:ScienceGenetic Association Studies030304 developmental biologyGenetic associationGenetics0303 health sciencesMultidisciplinaryGenetic heterogeneityPolimorfisme genèticlcsh:RCase-control studyOdds ratioColorectal cancer3. Good health030220 oncology & carcinogenesisCase-Control Studieslcsh:QColorectal NeoplasmsResearch Article
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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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Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

2010

Abstract The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carrie…

OncologyCancer Researchendocrine system diseasesVesicular Transport ProteinsGene mutation0302 clinical medicineRisk FactorsGenotypeskin and connective tissue diseasesAged 80 and over0303 health sciencesBRCA1 ProteinHigh Mobility Group ProteinsMiddle Aged3. Good healthOncology030220 oncology & carcinogenesisFemaleBreast diseaseReceptors ProgesteroneAdultHeterozygotemedicine.medical_specialtyGenotypeBreast NeoplasmsSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideRisk AssessmentArticle03 medical and health sciencesBreast cancerSDG 3 - Good Health and Well-beingInternal medicinemedicineHumansGenetic Predisposition to DiseaseAllelesAged030304 developmental biologyBRCA2 ProteinHereditary cancer and cancer-related syndromes [ONCOL 1]Sodium-Bicarbonate SymportersHaplotypeCancergenome-wide association estrogen-receptor loci variantsmedicine.diseaseSurvival AnalysisTOX3MutationTrans-ActivatorsCancer researchApoptosis Regulatory Proteins
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