2020
Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer
Lin Y, Nakatochi M, Hosono Y, Ito H, Kamatani Y, Inoko A, Sakamoto H, Kinoshita F, Kobayashi Y, Ishii H, Ozaka M, Sasaki T, Matsuyama M, Sasahira N, Morimoto M, Kobayashi S, Fukushima T, Ueno M, Ohkawa S, Egawa N, Kuruma S, Mori M, Nakao H, Adachi Y, Okuda M, Osaki T, Kamiya S, Wang C, Hara K, Shimizu Y, Miyamoto T, Hayashi Y, Ebi H, Kohmoto T, Imoto I, Kasugai Y, Murakami Y, Akiyama M, Ishigaki K, Matsuda K, Hirata M, Shimada K, Okusaka T, Kawaguchi T, Takahashi M, Watanabe Y, Kuriki K, Kadota A, Okada R, Mikami H, Takezaki T, Suzuki S, Yamaji T, Iwasaki M, Sawada N, Goto A, Kinoshita K, Fuse N, Katsuoka F, Shimizu A, Nishizuka SS, Tanno K, Suzuki K, Okada Y, Horikoshi M, Yamauchi T, Kadowaki T, Yu H, Zhong J, Amundadottir LT, Doki Y, Ishii H, Eguchi H, Bogumil D, Haiman CA, Le Marchand L, Mori M, Risch H, Setiawan VW, Tsugane S, Wakai K, Yoshida T, Matsuda F, Kubo M, Kikuchi S, Matsuo K. Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer. Nature Communications 2020, 11: 3175. PMID: 32581250, PMCID: PMC7314803, DOI: 10.1038/s41467-020-16711-w.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsGenome-wide significant lociLead single nucleotide polymorphismsGenome-wide association studiesGene variantsMeta-analysis identifiesEast Asian ancestryEast Asian originSignificant lociRisk lociFunctional analysisAssociation studiesPancreatic cancer susceptibilityRisk variantsNucleotide polymorphismsCell linesGene risk variantsCancer susceptibilityLociAsian ancestryKRAS activityAsian originVariantsPancreatic cancerPopulationA Transcriptome-Wide Association Study Identifies Novel Candidate Susceptibility Genes for Pancreatic Cancer
Zhong J, Jermusyk A, Wu L, Hoskins JW, Collins I, Mocci E, Zhang M, Song L, Chung CC, Zhang T, Xiao W, Albanes D, Andreotti G, Arslan AA, Babic A, Bamlet WR, Beane-Freeman L, Berndt S, Borgida A, Bracci PM, Brais L, Brennan P, Bueno-de-Mesquita B, Buring J, Canzian F, Childs EJ, Cotterchio M, Du M, Duell EJ, Fuchs C, Gallinger S, Gaziano JM, Giles GG, Giovannucci E, Goggins M, Goodman GE, Goodman PJ, Haiman C, Hartge P, Hasan M, Helzlsouer KJ, Holly EA, Klein EA, Kogevinas M, Kurtz RJ, LeMarchand L, Malats N, Männistö S, Milne R, Neale RE, Ng K, Obazee O, Oberg AL, Orlow I, Patel AV, Peters U, Porta M, Rothman N, Scelo G, Sesso HD, Severi G, Sieri S, Silverman D, Sund M, Tjønneland A, Thornquist MD, Tobias GS, Trichopoulou A, Van Den Eeden SK, Visvanathan K, Wactawski-Wende J, Wentzensen N, White E, Yu H, Yuan C, Zeleniuch-Jacquotte A, Hoover R, Brown K, Kooperberg C, Risch HA, Jacobs EJ, Li D, Yu K, Shu XO, Chanock SJ, Wolpin BM, Stolzenberg-Solomon RZ, Chatterjee N, Klein AP, Smith JP, Kraft P, Shi J, Petersen GM, Zheng W, Amundadottir LT. A Transcriptome-Wide Association Study Identifies Novel Candidate Susceptibility Genes for Pancreatic Cancer. Journal Of The National Cancer Institute 2020, 112: 1003-1012. PMID: 31917448, PMCID: PMC7566474, DOI: 10.1093/jnci/djz246.Peer-Reviewed Original ResearchConceptsTranscriptome-wide association studyCancer risk lociRisk lociAssociation studiesPancreatic cancer susceptibility lociGene expression prediction modelsNovel candidate susceptibility genesPossible causal genesGenome-wide association studiesGenome-wide associationCancer susceptibility lociCandidate susceptibility genesNormal pancreatic tissue samplesFunctional genesTranscriptome dataCausal genesNovel lociCandidate genesGene expressionSusceptibility lociGenesGenotype dataLociSusceptibility genesDifferent tissues
2018
Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer
Klein AP, Wolpin BM, Risch HA, Stolzenberg-Solomon RZ, Mocci E, Zhang M, Canzian F, Childs EJ, Hoskins JW, Jermusyk A, Zhong J, Chen F, Albanes D, Andreotti G, Arslan AA, Babic A, Bamlet WR, Beane-Freeman L, Berndt SI, Blackford A, Borges M, Borgida A, Bracci PM, Brais L, Brennan P, Brenner H, Bueno-de-Mesquita B, Buring J, Campa D, Capurso G, Cavestro GM, Chaffee KG, Chung CC, Cleary S, Cotterchio M, Dijk F, Duell EJ, Foretova L, Fuchs C, Funel N, Gallinger S, M. Gaziano JM, Gazouli M, Giles GG, Giovannucci E, Goggins M, Goodman GE, Goodman PJ, Hackert T, Haiman C, Hartge P, Hasan M, Hegyi P, Helzlsouer KJ, Herman J, Holcatova I, Holly EA, Hoover R, Hung RJ, Jacobs EJ, Jamroziak K, Janout V, Kaaks R, Khaw KT, Klein EA, Kogevinas M, Kooperberg C, Kulke MH, Kupcinskas J, Kurtz RJ, Laheru D, Landi S, Lawlor RT, Lee I, LeMarchand L, Lu L, Malats N, Mambrini A, Mannisto S, Milne RL, Mohelníková-Duchoňová B, Neale RE, Neoptolemos JP, Oberg AL, Olson SH, Orlow I, Pasquali C, Patel AV, Peters U, Pezzilli R, Porta M, Real FX, Rothman N, Scelo G, Sesso HD, Severi G, Shu XO, Silverman D, Smith JP, Soucek P, Sund M, Talar-Wojnarowska R, Tavano F, Thornquist MD, Tobias GS, Van Den Eeden SK, Vashist Y, Visvanathan K, Vodicka P, Wactawski-Wende J, Wang Z, Wentzensen N, White E, Yu H, Yu K, Zeleniuch-Jacquotte A, Zheng W, Kraft P, Li D, Chanock S, Obazee O, Petersen GM, Amundadottir LT. Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer. Nature Communications 2018, 9: 556. PMID: 29422604, PMCID: PMC5805680, DOI: 10.1038/s41467-018-02942-5.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Pancreatic DuctalDatabases, GeneticGenetic Predisposition to DiseaseGenome-Wide Association StudyHepatocyte Nuclear Factor 1-betaHepatocyte Nuclear Factor 4HumansIntercellular Signaling Peptides and ProteinsIntracellular Signaling Peptides and ProteinsPancreatic NeoplasmsPolymorphism, Single NucleotideProteinsRepressor ProteinsTensinsConceptsNew genome-wide significant lociGenome-wide significant lociExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisPANcreatic Disease ReseArch (PANDoRA) consortiumNew susceptibility lociPancreatic cancer susceptibility genesCommon susceptibility allelesCancer susceptibility genesSignificant lociPancreatic Cancer Case-Control ConsortiumMolecular supportPancreatic Cancer Cohort ConsortiumLocus analysisSusceptibility lociSusceptibility genesSusceptibility allelesEuropean ancestryNovel associationsLociPancreatic cancerConsortiumGWASGenesAlleles
2015
LINC00472 expression is regulated by promoter methylation and associated with disease-free survival in patients with grade 2 breast cancer
Shen Y, Wang Z, Loo LW, Ni Y, Jia W, Fei P, Risch HA, Katsaros D, Yu H. LINC00472 expression is regulated by promoter methylation and associated with disease-free survival in patients with grade 2 breast cancer. Breast Cancer Research And Treatment 2015, 154: 473-482. PMID: 26564482, PMCID: PMC4854534, DOI: 10.1007/s10549-015-3632-8.Peer-Reviewed Original ResearchConceptsDisease-free survivalLINC00472 expressionGrade 2 tumorsBreast cancerMolecular subtypesBreast tumorsFavorable molecular subtypesGrade 2 breast cancerBreast cancer managementLow-grade tumorsPromoter methylationBreast cancer progressionMultiple clinical datasetsPatient survivalTumor gradeLong non-coding RNAsEstrogen receptorCancer managementDysregulation of lncRNAsLINC00472Clinical implicationsPathogenic processesTumorsCancerPatientsEvidence of a genetic link between endometriosis and ovarian cancer
Lee A, Templeman C, Stram D, Beesley J, Tyrer J, Berchuck A, Pharoah P, Chenevix-Trench G, Pearce C, Consortium O, Ness R, Dansonka-Mieszkowska A, Gentry-Maharaj A, Hein A, Whittemore A, Jensen A, du Bois A, Brooks-Wilson A, Rudolph A, Jakubowska A, Wu A, Ziogas A, Ekici A, Leminen A, Study A, Group A, Rosen B, Spiewankiewicz B, Karlan B, Trabert B, Fridley B, Gilks C, Krakstad C, Phelan C, Cybulski C, Walsh C, Hogdall C, Cramer D, Huntsman D, Eccles D, Lambrechts D, Liang D, Levine D, Iversen E, Bandera E, Poole E, Goode E, Van Nieuwenhuysen E, Hogdall E, Bruinsma F, Heitz F, Modugno F, Giles G, Risch H, Baker H, Salvesen H, Nevanlinna H, Anton-Culver H, Song H, McNeish I, Campbell I, Vergote I, Runnebaum I, Tangen I, Schwaab I, Gronwald J, Paul J, Lubinski J, Doherty J, Chang-Claude J, Lester J, Schildkraut J, McLaughlin J, Lissowska J, Kupryjanczyk J, Tyrer J, Kelley J, Rothstein J, Cunningham J, Lu K, Carty K, Terry K, Aben K, Moysich K, Wicklund K, Odunsi K, Kiemeney L, Sucheston-Campbell L, Lundvall L, Massuger L, Pelttari L, Kelemen L, Cook L, Bjorge L, Nedergaard L, Brinton L, Wilkens L, Pike M, Goodman M, Bisogna M, Rossing M, Beckmann M, Dürst M, Southey M, Kellar M, Hildebrandt M, Siddiqui N, Antonenkova N, Bogdanova N, Le N, Wentzensen N, Thompson P, Harrington P, Webb P, Fasching P, Hillemanns P, Harter P, Sobiczewski P, Weber R, Butzow R, Edwards R, Vierkant R, Glasspool R, Orsulic S, Lambrechts S, Olson S, Wang-Gohrke S, Lele S, Tworoger S, Gayther S, Missmer S, Narod S, Ramus S, Kjaer S, Pejovic T, Dörk T, Eilber U, Menon U, McGuire V, Sieh W, Wu X, Bean Y, Shvetsov Y. Evidence of a genetic link between endometriosis and ovarian cancer. Fertility And Sterility 2015, 105: 35-43.e10. PMID: 26477498, PMCID: PMC5068352, DOI: 10.1016/j.fertnstert.2015.09.023.Peer-Reviewed Original Research
2013
A Resequence Analysis of Genomic Loci on Chromosomes 1q32.1, 5p15.33, and 13q22.1 Associated With Pancreatic Cancer Risk
Parikh H, Jia J, Zhang X, Chung CC, Jacobs KB, Yeager M, Boland J, Hutchinson A, Burdett L, Hoskins J, Risch HA, Stolzenberg-Solomon RZ, Chanock SJ, Wolpin BM, Petersen GM, Fuchs CS, Hartge P, Amundadottir L. A Resequence Analysis of Genomic Loci on Chromosomes 1q32.1, 5p15.33, and 13q22.1 Associated With Pancreatic Cancer Risk. Pancreas 2013, 42: 209-215. PMID: 23295781, PMCID: PMC3618611, DOI: 10.1097/mpa.0b013e318264cea5.Peer-Reviewed Original ResearchMeSH KeywordsChromosomes, Human, Pair 1Chromosomes, Human, Pair 13Chromosomes, Human, Pair 5Databases, GeneticGene FrequencyGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHaplotypesHumansLinkage DisequilibriumPancreatic NeoplasmsPolymorphism, Single NucleotideRacial GroupsRisk AssessmentRisk FactorsSequence Analysis, DNAConceptsGenome-wide association studiesSingle nucleotide polymorphismsChromosome 1q32.1Novel single nucleotide polymorphismsTag SNP analysisResequence analysisGenomic lociLess common variantsContinental populationsGenomic regionsGenome dataRoche 454GWAS dataAssociation studiesHapMap samplesSusceptibility lociHaplotype blocksSNP analysisAnalytical pipelineGermline variationSusceptibility regionsCommon variantsEuropean populationsGermline sequencesLoci