0000000000707495

AUTHOR

Christine B. Ambrosone

showing 3 related works from this author

Germline variation in the insulin-like growth factor pathway and risk of Barrett's esophagus and esophageal adenocarcinoma

2020

Contains fulltext : 235640.pdf (Publisher’s version ) (Closed access) Genome-wide association studies (GWAS) of esophageal adenocarcinoma (EAC) and its precursor, Barrett's esophagus (BE), have uncovered significant genetic components of risk, but most heritability remains unexplained. Targeted assessment of genetic variation in biologically relevant pathways using novel analytical approaches may identify missed susceptibility signals. Central obesity, a key BE/EAC risk factor, is linked to systemic inflammation, altered hormonal signaling and insulin-like growth factor (IGF) axis dysfunction. Here, we assessed IGF-related genetic variation and risk of BE and EAC. Principal component analys…

0301 basic medicineOncologyMaleCancer Researchmedicine.medical_specialtyEsophageal NeoplasmsMedizinSingle-nucleotide polymorphismGenome-wide association studyBiologyAdenocarcinomaPolymorphism Single NucleotideReceptor IGF Type 103 medical and health sciencesBarrett Esophagus0302 clinical medicineRisk FactorsSomatomedinsInternal medicineGenetic variationmedicineBiomarkers TumorSNPHumansGenetic Predisposition to DiseaseRisk factorGerm-Line MutationCancer Biomarkers and Molecular EpidemiologyInsulin-like growth factor 1 receptorGenetic associationAgedGeneral MedicineMiddle Agedmedicine.diseaseRenal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]030104 developmental biology030220 oncology & carcinogenesisBarrett's esophagusFemaleHuman medicineCarrier ProteinsGenome-Wide Association StudySignal TransductionCarcinogenesis
researchProduct

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
researchProduct

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
researchProduct