0000000000338731

AUTHOR

Jenny Chang-claude

showing 11 related works from this author

A Genome-wide Association Study of Early-onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for…

2014

Abstract Early-onset breast cancer (EOBC) causes substantial loss of life and productivity, creating a major burden among women worldwide. We analyzed 1,265,548 Hapmap3 single-nucleotide polymorphisms (SNP) among a discovery set of 3,523 EOBC incident cases and 2,702 population control women ages ≤ 51 years. The SNPs with smallest P values were examined in a replication set of 3,470 EOBC cases and 5,475 control women. We also tested EOBC association with 19,684 genes by annotating each gene with putative functional SNPs, and then combining their P values to obtain a gene-based P value. We examined the gene with smallest P value for replication in 1,145 breast cancer cases and 1,142 control …

EpidemiologyPopulationGenome-wide association studySingle-nucleotide polymorphismBreast NeoplasmsBiologyPolymorphism Single NucleotideArticle03 medical and health sciences0302 clinical medicineBreast cancerSDG 3 - Good Health and Well-beingPhosphofructokinase-1 Muscle TypeGenetic predispositionmedicineBiomarkers TumorSNPHumansGenetic Predisposition to DiseaseeducationGene030304 developmental biologyGenetics0303 health scienceseducation.field_of_studyMiddle Agedmedicine.disease3. Good healthOncologyPFKM030220 oncology & carcinogenesisCase-Control StudiesFemaleGenome-Wide Association Study
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<i>BRAF</i> Mutation Testing in Lynch Syndrome Diagnostics: Performance and Efficiency According to Patient's Age

2019

Background: BRAF V600E mutations are reportedly associated with sporadic microsatellite-unstable (MSI) colorectal cancer (CRC), while rarely detected in CRCs of Lynch syndrome (LS) patients. Therefore, current international diagnostic guidelines recommend somatic BRAF mutation testing in MLH1-deficient MSI CRC patients to exclude LS. As sporadic BRAF- mutant MSI CRC is a disease of the elderly, while LS-associated CRC usually occurs at younger age, we hypothesized that the efficacy of BRAF testing in LS diagnostics may be age-dependent. Methods: We systematically compared the prevalence of BRAF mutations in LS-associated CRCs and MSI CRCs from population-based cohorts in different age group…

Oncologymedicine.medical_specialtyeducation.field_of_studyColorectal cancerbusiness.industryGenetic counselingPopulationCancerMicrosatellite instabilityDiseasemedicine.diseasedigestive system diseasesLynch syndromeInternal medicinemedicineMutation testingeducationbusinessneoplasmsSSRN Electronic Journal
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Colonoscopy and reduction of colorectal cancer risk by molecular tumor subtypes: a population-based case-control study

2020

AbstractObjectiveIn previous studies, the protective effect of colonoscopy was generally stronger for distal than for proximal colorectal cancer (CRC). This study aimed to investigate whether the association of colonoscopy and CRC risk varies according to major molecular pathological features and pathways of CRC.DesignPopulation-based case-control study from Germany, including 2132 patients with a first diagnosis of CRC and information on major molecular tumor markers, and 2486 control participants without CRC. Detailed participant characteristics were collected by standardized questionnaires and information on previous colonoscopy was derived from medical records. Polytomous logistic regre…

AdenomaMaleProto-Oncogene Proteins B-rafOncologymedicine.medical_specialtyColorectal cancerPopulationRectumColonoscopymedicine.disease_cause03 medical and health sciences0302 clinical medicineGermanyInternal medicineBiomarkers TumormedicineHumanseducationneoplasmsAgedAged 80 and overeducation.field_of_studyHepatologyCpG Island Methylator Phenotypemedicine.diagnostic_testbusiness.industryGastroenterologyCase-control studyCancerColonoscopyOdds ratioDNA MethylationMiddle Agedmedicine.diseaseConfidence intervaldigestive system diseasesmedicine.anatomical_structureCase-Control Studies030220 oncology & carcinogenesisMutationCpG IslandsFemaleMicrosatellite Instability030211 gastroenterology & hepatologyObservational studyKRASColorectal Neoplasmsbusiness
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The HMGB1 protein induces a metabolic type of tumour cell death by blocking aerobic respiration

2016

The high-mobility group box 1 (HMGB1) protein has a central role in immunological antitumour defense. Here we show that natural killer cell-derived HMGB1 directly eliminates cancer cells by triggering metabolic cell death. HMGB1 allosterically inhibits the tetrameric pyruvate kinase isoform M2, thus blocking glucose-driven aerobic respiration. This results in a rapid metabolic shift forcing cells to rely solely on glycolysis for the maintenance of energy production. Cancer cells can acquire resistance to HMGB1 by increasing glycolysis using the dimeric form of PKM2, and employing glutaminolysis. Consistently, we observe an increase in the expression of a key enzyme of glutaminolysis, malic …

0301 basic medicineProgrammed cell deathThyroid HormonesCellular respirationScienceCell RespirationMalic enzymeGeneral Physics and Astronomychemical and pharmacologic phenomenaPKM2BiologyGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesCell Line TumorHumansGlycolysisHMGB1 ProteinMultidisciplinaryGlutaminolysisCell DeathQMembrane ProteinsGeneral ChemistryCell biology030104 developmental biologyGlucoseCancer cellColonic NeoplasmsCarrier ProteinsGlycolysisPyruvate kinaseNature Communications
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DNA methylation profiling to explore colorectal tumor differences according to menopausal hormone therapy use in women

2019

Aim: Use of menopausal hormone therapy (MHT) has been associated with a reduced risk for colorectal cancer, but mechanisms underlying this relationship are not well understood. In the colon, MHT appears to act through estrogen receptor β (ERβ) which may influence DNA methylation by binding to DNA. Using genome-wide methylation profiling data, we aimed to identify genes that may be differentially methylated according to MHT use. Materials & methods: DNA methylation was measured using Illumina HumanMethylation450k arrays in two independent tumor sample sets of colorectal cancer patients. Differential methylation was determined using R/limma. Results: In the discovery analysis, two CpG si…

Cancer Researchmedicine.drug_classColorectal cancermedicine.medical_treatmentEstrogen receptorBiologychemistry.chemical_compoundGeneticsmedicineEstrogen Receptor betaHumansGeneAgedAged 80 and overEstrogen Replacement TherapyHormone replacement therapy (menopause)DNA MethylationMiddle Agedmedicine.diseasechemistryCpG siteEstrogenDNA methylationCancer researchCpG IslandsFemaleMenopauseColorectal NeoplasmsDNAEpigenomics
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Genome-wide DNA methylation differences according to oestrogen receptor beta status in colorectal cancer.

2019

Involvement of sex hormones in colorectal cancer (CRC) development has been linked to oestrogen receptor β (ERβ). Expression of ERβ is found reduced in tumour tissue and inversely related to mortality. However, mechanisms are not well understood. Our study aimed to detect differentially methylated genes associated with ERβ expression, which could point to mechanisms by which ERβ could influence risk and prognosis of CRC. Epigenome-wide DNA methylation profiling was performed using Illumina HumanMethylation450k BeadChip arrays in two independent tumour sample sets of CRC patients recruited in 2003–2010 by the German DACHS study (discovery cohort n = 917, replication cohort n = 907). ERβ expr…

0301 basic medicineAdultMaleCancer ResearchColorectal cancerBiologyGenomeEpigenesis Genetic03 medical and health sciencesTumour tissue0302 clinical medicinemedicineBiomarkers TumorEstrogen Receptor betaHumansEpigeneticsOestrogen receptorBeta (finance)Promoter Regions GeneticMolecular BiologyAgedAged 80 and overDNA MethylationMiddle Agedmedicine.diseasePrognosisGene Expression Regulation NeoplasticSurvival Rate030104 developmental biology030220 oncology & carcinogenesisCase-Control StudiesDNA methylationCancer researchFemaleColorectal NeoplasmsHormoneFollow-Up StudiesGenome-Wide Association StudyResearch PaperEpigenetics
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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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Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types

2015

BACKGROUND: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.METHODS: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cance…

MaleCancer ResearchLung NeoplasmsLymphomaGenome-wide association studyPolymorphism (computer science)NeoplasmsMedicineChronicGeneticsOsteosarcomaOncology And CarcinogenesisLeukemiaSmokingFamily aggregationSingle NucleotideMiddle AgedFamilial riskDiffuseKidney NeoplasmsLymphocyticOncologyAdult; Aged; Asian Continental Ancestry Group; Bone Neoplasms; European Continental Ancestry Group; Female; Humans; Kidney Neoplasms; Leukemia Lymphocytic Chronic B-Cell; Lung Neoplasms; Lymphoma Large B-Cell Diffuse; Male; Middle Aged; Neoplasms; Osteosarcoma; Polymorphism Single Nucleotide; Smoking; Testicular Neoplasms; Tissue Array Analysis; Urinary Bladder Neoplasms; Genetic Predisposition to Disease; Genome-Wide Association StudyFemaleLymphoma Large B-Cell DiffuseAdultAsian Continental Ancestry GroupEuropean Continental Ancestry Group/Bone NeoplasmsPolymorphism Single NucleotideGenetic correlationTesticular NeoplasmsLarge B-CellHumansGenetic Predisposition to DiseaseOncology & CarcinogenesisPolymorphismAgedbusiness.industryExtramuralB-CellCancerHeritabilityGenome-wide association studies for thirteen cancer typesmedicine.diseaseLeukemia Lymphocytic Chronic B-CellUrinary Bladder NeoplasmsTissue Array AnalysisbusinessGenome-Wide Association StudyJournal of the National Cancer Institute
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Reproductive and Hormonal Factors, and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers: Results from the International BRCA1/2 Carrier Coho…

2009

Abstract Background: Several reproductive and hormonal factors are known to be associated with ovarian cancer risk in the general population, including parity and oral contraceptive (OC) use. However, their effect on ovarian cancer risk for BRCA1 and BRCA2 mutation carriers has only been investigated in a small number of studies. Methods: We used data on 2,281 BRCA1 carriers and 1,038 BRCA2 carriers from the International BRCA1/2 Carrier Cohort Study to evaluate the effect of reproductive and hormonal factors on ovarian cancer risk for mutation carriers. Data were analyzed within a weighted Cox proportional hazards framework. Results: There were no significant differences in the risk of ova…

AdultOncologymedicine.medical_specialtyendocrine system diseasesSterilization TubalEpidemiologyPopulationCohort StudiesPregnancyRisk FactorsInternal medicinemedicineHumanseducationProportional Hazards ModelsBRCA2 ProteinOvarian NeoplasmsGynecologyTubal ligationeducation.field_of_studyBRCA1 Proteinbusiness.industryProportional hazards modelHazard ratioCancerMiddle Agedmedicine.diseasefemale genital diseases and pregnancy complicationsParityOncologyMutationFemalebusinessRisk assessmentOvarian cancerContraceptives OralCohort studyCancer Epidemiology, Biomarkers & Prevention
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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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Genome-wide DNA methylation differences according to oestrogen receptor beta status in colorectal cancer

2019

Involvement of sex hormones in colorectal cancer (CRC) development has been linked to oestrogen receptor β (ERβ). Expression of ERβ is found reduced in tumour tissue and inversely related to mortality. However, mechanisms are not well understood. Our study aimed to detect differentially methylated genes associated with ERβ expression, which could point to mechanisms by which ERβ could influence risk and prognosis of CRC. Epigenome-wide DNA methylation profiling was performed using Illumina HumanMethylation450k BeadChip arrays in two independent tumour sample sets of CRC patients recruited in 2003–2010 by the German DACHS study (discovery cohort n = 917, replication cohort n = 907). ERβ expr…

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