0000000000970715

AUTHOR

Diether Lambrechts

showing 4 related works from this author

CYP2D6 genotype and adjuvant tamoxifen: meta-analysis of heterogeneous study populations.

2013

The International Tamoxifen Pharmacogenomics Consortium was established to address the controversy regarding cytochrome P450 2D6 (CYP2D6) status and clinical outcomes in tamoxifen therapy. We performed a meta-analysis on data from 4,973 tamoxifen-treated patients (12 globally distributed sites). Using strict eligibility requirements (postmenopausal women with estrogen receptor-positive breast cancer, receiving 20 mg/day tamoxifen for 5 years, criterion 1); CYP2D6 poor metabolizer status was associated with poorer invasive disease-free survival (IDFS: hazard ratio = 1.25; 95% confidence interval = 1.06, 1.47; P = 0.009). However, CYP2D6 status was not statistically significant when tamoxifen…

Oncologymedicine.medical_specialtyAntineoplastic Agents HormonalGenotypeBreast Neoplasms030226 pharmacology & pharmacy03 medical and health sciences0302 clinical medicineBreast cancerInternal medicinemedicineHumansPharmacology (medical)skin and connective tissue diseasesProspective cohort studySurvival analysisAgedPharmacologyGynecologybusiness.industryHazard ratioGenetic VariationMiddle Agedmedicine.diseaseSurvival AnalysisConfidence interval3. Good healthTamoxifenTreatment OutcomeCytochrome P-450 CYP2D6Pharmacogenetics030220 oncology & carcinogenesisMeta-analysisFemaleMenopausebusinessTamoxifenPharmacogeneticsmedicine.drugClinical pharmacology and therapeutics
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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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Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

2012

BACKGROUND: High plasma HDL cholesterol is associated with reduced risk of myocardial infarction, but whether this association is causal is unclear. Exploiting the fact that genotypes are randomly assigned at meiosis, are independent of non-genetic confounding, and are unmodified by disease processes, mendelian randomisation can be used to test the hypothesis that the association of a plasma biomarker with disease is causal. METHODS: We performed two mendelian randomisation analyses. First, we used as an instrument a single nucleotide polymorphism (SNP) in the endothelial lipase gene (LIPG Asn396Ser) and tested this SNP in 20 studies (20,913 myocardial infarction cases, 95,407 controls). Se…

LOCIMyocardial Infarction030204 cardiovascular system & hematologychemistry.chemical_compound0302 clinical medicineHigh-density lipoproteinGene Frequencyplasma HDL cholesterol ; mendelian randomisation ; MIHDL cholesterolsingle nucleotide polymorphismRisk FactorsGENETIC-VARIANTSARTERY-DISEASEProspective StudiesMyocardial infarction0303 health sciencesHDL cholesterol; myocardial infarction; single nucleotide polymorphismISCHEMIC CARDIOVASCULAR-DISEASEGeneral Medicine3. Good healthCardiologylipids (amino acids peptides and proteins)medicine.medical_specialtyDalcetrapibSingle-nucleotide polymorphismPolymorphism Single Nucleotide03 medical and health sciencesInternal medicinemedicineHumansCORONARY-HEART-DISEASEGenetic Predisposition to DiseaseMETAANALYSIS030304 developmental biologyBLOOD CHOLESTEROLbusiness.industryCholesterolCholesterol HDLCase-control studyCholesterol LDLLipaseOdds ratioMendelian Randomization Analysismedicine.diseaseENDOTHELIAL LIPASEATHEROSCLEROSISchemistryCase-Control StudiesbusinessHIGH-DENSITY-LIPOPROTEINBiomarkersEvacetrapibThe Lancet
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Genome-wide association studies identify four ER negative-specific breast cancer risk loci

2013

Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a metaanalysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environm…

Oncologygenetic associationbody-mass indexEstrogen receptorGenome-wide association studycancer riskBioinformaticssusceptibilitychromosome 1q0302 clinical medicineRisk Factorssingle nucleotide polymorphismGenotypeestrogenCooperative Behaviorcomparative studyOligonucleotide Array Sequence Analysis0303 health scienceschromosome 16q3. Good healthReceptors Estrogenpriority journal030220 oncology & carcinogenesisFemalecancer invasionsignal transductionbreast cancer; cancer invasion; cancer risk; chromosome 1; chromosome 16q; chromosome 1q; chromosome 2p; comparative study; follow up; gene locus; genetic association; genetic susceptibility; human; nucleotide sequence; priority journal; signal transduction; single nucleotide polymorphismmedicine.medical_specialtyGenotypegene locusBreast NeoplasmsSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticle03 medical and health sciencesBreast cancerbreast cancerMeta-Analysis as TopicSDG 3 - Good Health and Well-beingInternal medicineexpressionGeneticsmedicineGenetic predispositionHumansfollow upGenetic Predisposition to Diseasehumanchromosome 1gene030304 developmental biologyCase-control studyCancernucleotide sequencemedicine.diseasechromosome 2pGenetic LociCase-Control Studiescommon variantGenome-Wide Association Studygenetic susceptibilityNature Genetics
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