2019
Shared heritability and functional enrichment across six solid cancers
Jiang X, Finucane HK, Schumacher FR, Schmit SL, Tyrer JP, Han Y, Michailidou K, Lesseur C, Kuchenbaecker KB, Dennis J, Conti DV, Casey G, Gaudet MM, Huyghe JR, Albanes D, Aldrich MC, Andrew AS, Andrulis IL, Anton-Culver H, Antoniou AC, Antonenkova NN, Arnold SM, Aronson KJ, Arun BK, Bandera EV, Barkardottir RB, Barnes DR, Batra J, Beckmann MW, Benitez J, Benlloch S, Berchuck A, Berndt SI, Bickeböller H, Bien SA, Blomqvist C, Boccia S, Bogdanova NV, Bojesen SE, Bolla MK, Brauch H, Brenner H, Brenton JD, Brook MN, Brunet J, Brunnström H, Buchanan DD, Burwinkel B, Butzow R, Cadoni G, Caldés T, Caligo MA, Campbell I, Campbell PT, Cancel-Tassin G, Cannon-Albright L, Campa D, Caporaso N, Carvalho AL, Chan AT, Chang-Claude J, Chanock SJ, Chen C, Christiani DC, Claes KBM, Claessens F, Clements J, Collée JM, Correa MC, Couch FJ, Cox A, Cunningham JM, Cybulski C, Czene K, Daly MB, deFazio A, Devilee P, Diez O, Gago-Dominguez M, Donovan JL, Dörk T, Duell EJ, Dunning AM, Dwek M, Eccles DM, Edlund CK, Edwards DRV, Ellberg C, Evans DG, Fasching PA, Ferris RL, Liloglou T, Figueiredo JC, Fletcher O, Fortner RT, Fostira F, Franceschi S, Friedman E, Gallinger SJ, Ganz PA, Garber J, García-Sáenz JA, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, Goode EL, Goodman MT, Goodman G, Grankvist K, Greene MH, Gronberg H, Gronwald J, Guénel P, Håkansson N, Hall P, Hamann U, Hamdy FC, Hamilton RJ, Hampe J, Haugen A, Heitz F, Herrero R, Hillemanns P, Hoffmeister M, Høgdall E, Hong YC, Hopper JL, Houlston R, Hulick PJ, Hunter DJ, Huntsman DG, Idos G, Imyanitov EN, Ingles SA, Isaacs C, Jakubowska A, James P, Jenkins MA, Johansson M, Johansson M, John EM, Joshi AD, Kaneva R, Karlan BY, Kelemen LE, Kühl T, Khaw KT, Khusnutdinova E, Kibel AS, Kiemeney LA, Kim J, Kjaer SK, Knight JA, Kogevinas M, Kote-Jarai Z, Koutros S, Kristensen VN, Kupryjanczyk J, Lacko M, Lam S, Lambrechts D, Landi MT, Lazarus P, Le ND, Lee E, Lejbkowicz F, Lenz HJ, Leslie G, Lessel D, Lester J, Levine DA, Li L, Li CI, Lindblom A, Lindor NM, Liu G, Loupakis F, Lubiński J, Maehle L, Maier C, Mannermaa A, Marchand LL, Margolin S, May T, McGuffog L, Meindl A, Middha P, Miller A, Milne RL, MacInnis RJ, Modugno F, Montagna M, Moreno V, Moysich KB, Mucci L, Muir K, Mulligan AM, Nathanson KL, Neal DE, Ness AR, Neuhausen SL, Nevanlinna H, Newcomb PA, Newcomb LF, Nielsen FC, Nikitina-Zake L, Nordestgaard BG, Nussbaum RL, Offit K, Olah E, Olama AAA, Olopade OI, Olshan AF, Olsson H, Osorio A, Pandha H, Park JY, Pashayan N, Parsons MT, Pejovic T, Penney KL, Peters WHM, Phelan CM, Phipps AI, Plaseska-Karanfilska D, Pring M, Prokofyeva D, Radice P, Stefansson K, Ramus SJ, Raskin L, Rennert G, Rennert HS, van Rensburg EJ, Riggan MJ, Risch HA, Risch A, Roobol MJ, Rosenstein BS, Rossing MA, De Ruyck K, Saloustros E, Sandler DP, Sawyer EJ, Schabath MB, Schleutker J, Schmidt MK, Setiawan VW, Shen H, Siegel EM, Sieh W, Singer CF, Slattery ML, Sorensen KD, Southey MC, Spurdle AB, Stanford JL, Stevens VL, Stintzing S, Stone J, Sundfeldt K, Sutphen R, Swerdlow AJ, Tajara EH, Tangen CM, Tardon A, Taylor JA, Teare MD, Teixeira MR, Terry MB, Terry KL, Thibodeau SN, Thomassen M, Bjørge L, Tischkowitz M, Toland AE, Torres D, Townsend PA, Travis RC, Tung N, Tworoger SS, Ulrich CM, Usmani N, Vachon CM, Van Nieuwenhuysen E, Vega A, Aguado-Barrera ME, Wang Q, Webb PM, Weinberg CR, Weinstein S, Weissler MC, Weitzel JN, West CML, White E, Whittemore AS, Wichmann HE, Wiklund F, Winqvist R, Wolk A, Woll P, Woods M, Wu AH, Wu X, Yannoukakos D, Zheng W, Zienolddiny S, Ziogas A, Zorn KK, Lane JM, Saxena R, Thomas D, Hung RJ, Diergaarde B, McKay J, Peters U, Hsu L, García-Closas M, Eeles RA, Chenevix-Trench G, Brennan PJ, Haiman CA, Simard J, Easton DF, Gruber SB, Pharoah PDP, Price AL, Pasaniuc B, Amos CI, Kraft P, Lindström S. Shared heritability and functional enrichment across six solid cancers. Nature Communications 2019, 10: 431. PMID: 30683880, PMCID: PMC6347624, DOI: 10.1038/s41467-018-08054-4.Peer-Reviewed Original ResearchMeSH KeywordsBreast NeoplasmsCase-Control StudiesColorectal NeoplasmsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHead and Neck NeoplasmsHumansInheritance PatternsLung NeoplasmsMaleMental DisordersNeoplasm ProteinsOvarian NeoplasmsPhenotypePolymorphism, Single NucleotideProstatic NeoplasmsSmokingWhite PeopleConceptsHead/neck cancerHead/neckColorectal cancerLung cancerNeck cancerOvarian cancerProstate cancerSolid cancersGenetic correlationsPsychiatric diseasesSolid tumorsMultiple cancersCancerCancer etiologyCancer typesBreastFunctional enrichment analysisMetabolic characteristicsGenome-wide association study summary statisticsLungDiseaseSignificant genetic correlationsEuropean ancestryEnrichment analysisFunctional enrichment
2016
Telomere structure and maintenance gene variants and risk of five cancer types
Karami S, Han Y, Pande M, Cheng I, Rudd J, Pierce BL, Nutter EL, Schumacher FR, Kote‐Jarai Z, Lindstrom S, Witte JS, Fang S, Han J, Kraft P, Hunter DJ, Song F, Hung RJ, McKay J, Gruber SB, Chanock SJ, Risch A, Shen H, Haiman CA, Boardman L, Ulrich CM, Casey G, Peters U, Al Olama A, Berchuck A, Berndt SI, Bezieau S, Brennan P, Brenner H, Brinton L, Caporaso N, Chan AT, Chang‐Claude J, Christiani DC, Cunningham JM, Easton D, Eeles RA, Eisen T, Gala M, Gallinger SJ, Gayther SA, Goode EL, Grönberg H, Henderson BE, Houlston R, Joshi AD, Küry S, Landi MT, Le Marchand L, Muir K, Newcomb PA, Permuth‐Wey J, Pharoah P, Phelan C, Potter JD, Ramus SJ, Risch H, Schildkraut J, Slattery ML, Song H, Wentzensen N, White E, Wiklund F, Zanke BW, Sellers TA, Zheng W, Chatterjee N, Amos CI, Doherty JA, on behalf of GECCO and the GAME‐ON Network: CORECT D. Telomere structure and maintenance gene variants and risk of five cancer types. International Journal Of Cancer 2016, 139: 2655-2670. PMID: 27459707, PMCID: PMC5198774, DOI: 10.1002/ijc.30288.Peer-Reviewed Original ResearchConceptsLung cancerCancer riskProstate cancerCancer typesLung cancer riskInfluences cancer riskSNP minor allelesIndependent associationCancer casesColorectalMultiple cancersCancerProstateBreastMinor alleleOvarianGene variantsEuropean descentRiskNovel findingsReverse transcriptaseTelomere dysfunctionIndependent SNPsAssociationCap chromosomeGWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer
Chen MM, O'Mara TA, Thompson DJ, Painter JN, Group T, Attia J, Black A, Brinton L, Chanock S, Chen C, Cheng T, Cook L, Crous-Bou M, Doherty J, Friedenreich C, Garcia-Closas M, Gaudet M, Gorman M, Haiman C, Hankinson S, Hartge P, Henderson B, Hodgson S, Holliday E, Horn-Ross P, Hunter D, Le Marchand L, Liang X, Lissowska J, Long J, Lu L, Magliocco A, Martin L, McEvoy M, Group S, Olson S, Orlow I, Pooler L, Prescott J, Rastogi R, Rebbeck T, Risch H, Sacerdote C, Schumacher F, Setiawan V, Scott R, Sheng X, Shu X, Turman C, Van Den Berg D, Wang Z, Weiss N, Wentzensen N, Xia L, Xiang Y, Yang H, Yu H, Zheng W, Pharoah P, Dunning A, Tomlinson I, Easton D, Kraft P, Spurdle A, De Vivo I. GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer. Human Molecular Genetics 2016, 25: 2612-2620. PMID: 27008869, PMCID: PMC5868213, DOI: 10.1093/hmg/ddw092.Peer-Reviewed Original ResearchConceptsEndometrial cancerCommon gynecological malignancyMeta-analysis resultsGynecological malignanciesGenome-wide significanceGenetic predispositionWide association studyNew susceptibility lociGenetic susceptibilityGenetic riskCancerNew lociAssociation studiesEuropean ancestrySusceptibility lociWomen
2015
Body Mass Index Genetic Risk Score and Endometrial Cancer Risk
Prescott J, Setiawan VW, Wentzensen N, Schumacher F, Yu H, Delahanty R, Bernstein L, Chanock SJ, Chen C, Cook LS, Friedenreich C, Garcia-Closas M, Haiman CA, Le Marchand L, Liang X, Lissowska J, Lu L, Magliocco AM, Olson SH, Risch HA, Shu XO, Ursin G, Yang HP, Kraft P, De Vivo I. Body Mass Index Genetic Risk Score and Endometrial Cancer Risk. PLOS ONE 2015, 10: e0143256. PMID: 26606540, PMCID: PMC4659592, DOI: 10.1371/journal.pone.0143256.Peer-Reviewed Original ResearchConceptsEndometrial cancer riskBody mass indexGenotype risk scoreCancer riskRisk scoreHigher body mass indexRisk allelesIndependent risk factorEndometrial cancer casesExcess body weightRisk factor dataGenetic risk scoreGenome-wide association studiesEndometrial cancerMass indexBMI riskRisk factorsEffect modificationCancer casesRisk lociBody weightCancer shareExploratory analysisStudy designControl participantsAnalysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types
Sampson JN, Wheeler WA, Yeager M, Panagiotou O, Wang Z, Berndt SI, Lan Q, Abnet CC, Amundadottir LT, Figueroa JD, Landi MT, Mirabello L, Savage SA, Taylor PR, De Vivo I, McGlynn KA, Purdue MP, Rajaraman P, Adami HO, Ahlbom A, Albanes D, Amary MF, An SJ, Andersson U, Andriole G, Andrulis IL, Angelucci E, Ansell SM, Arici C, Armstrong BK, Arslan AA, Austin MA, Baris D, Barkauskas DA, Bassig BA, Becker N, Benavente Y, Benhamou S, Berg C, Van Den Berg D, Bernstein L, Bertrand KA, Birmann BM, Black A, Boeing H, Boffetta P, Boutron-Ruault MC, Bracci PM, Brinton L, Brooks-Wilson AR, Bueno-de-Mesquita HB, Burdett L, Buring J, Butler MA, Cai Q, Cancel-Tassin G, Canzian F, Carrato A, Carreon T, Carta A, Chan JK, Chang ET, Chang GC, Chang IS, Chang J, Chang-Claude J, Chen CJ, Chen CY, Chen C, Chen CH, Chen C, Chen H, Chen K, Chen KY, Chen KC, Chen Y, Chen YH, Chen YS, Chen YM, Chien LH, Chirlaque MD, Choi JE, Choi YY, Chow WH, Chung CC, Clavel J, Clavel-Chapelon F, Cocco P, Colt JS, Comperat E, Conde L, Connors JM, Conti D, Cortessis VK, Cotterchio M, Cozen W, Crouch S, Crous-Bou M, Cussenot O, Davis FG, Ding T, Diver WR, Dorronsoro M, Dossus L, Duell EJ, Ennas MG, Erickson RL, Feychting M, Flanagan AM, Foretova L, Fraumeni JF, Freedman ND, Beane Freeman LE, Fuchs C, Gago-Dominguez M, Gallinger S, Gao YT, Gapstur SM, Garcia-Closas M, García-Closas R, Gascoyne RD, Gastier-Foster J, Gaudet MM, Gaziano JM, Giffen C, Giles GG, Giovannucci E, Glimelius B, Goggins M, Gokgoz N, Goldstein AM, Gorlick R, Gross M, Grubb R, Gu J, Guan P, Gunter M, Guo H, Habermann TM, Haiman CA, Halai D, Hallmans G, Hassan M, Hattinger C, He Q, He X, Helzlsouer K, Henderson B, Henriksson R, Hjalgrim H, Hoffman-Bolton J, Hohensee C, Holford TR, Holly EA, Hong YC, Hoover RN, Horn-Ross PL, Hosain GM, Hosgood HD, Hsiao CF, Hu N, Hu W, Hu Z, Huang MS, Huerta JM, Hung JY, Hutchinson A, Inskip PD, Jackson RD, Jacobs EJ, Jenab M, Jeon HS, Ji BT, Jin G, Jin L, Johansen C, Johnson A, Jung YJ, Kaaks R, Kamineni A, Kane E, Kang CH, Karagas MR, Kelly RS, Khaw KT, Kim C, Kim HN, Kim JH, Kim JS, Kim YH, Kim YT, Kim YC, Kitahara CM, Klein AP, Klein RJ, Kogevinas M, Kohno T, Kolonel LN, Kooperberg C, Kricker A, Krogh V, Kunitoh H, Kurtz RC, Kweon SS, LaCroix A, Lawrence C, Lecanda F, Lee VH, Li D, Li H, Li J, Li YJ, Li Y, Liao LM, Liebow M, Lightfoot T, Lim WY, Lin CC, Lin D, Lindstrom S, Linet MS, Link BK, Liu C, Liu J, Liu L, Ljungberg B, Lloreta J, Di Lollo S, Lu D, Lund E, Malats N, Mannisto S, Le Marchand L, Marina N, Masala G, Mastrangelo G, Matsuo K, Maynadie M, McKay J, McKean-Cowdin R, Melbye M, Melin BS, Michaud DS, Mitsudomi T, Monnereau A, Montalvan R, Moore LE, Mortensen LM, Nieters A, North KE, Novak AJ, Oberg AL, Offit K, Oh IJ, Olson SH, Palli D, Pao W, Park IK, Park JY, Park KH, Patiño-Garcia A, Pavanello S, Peeters PH, Perng RP, Peters U, Petersen GM, Picci P, Pike MC, Porru S, Prescott J, Prokunina-Olsson L, Qian B, Qiao YL, Rais M, Riboli E, Riby J, Risch HA, Rizzato C, Rodabough R, Roman E, Roupret M, Ruder AM, Sanjose Sd, Scelo G, Schned A, Schumacher F, Schwartz K, Schwenn M, Scotlandi K, Seow A, Serra C, Serra M, Sesso HD, Setiawan VW, Severi G, Severson RK, Shanafelt TD, Shen H, Shen W, Shin MH, Shiraishi K, Shu XO, Siddiq A, Sierrasesúmaga L, Sihoe AD, Skibola CF, Smith A, Smith MT, Southey MC, Spinelli JJ, Staines A, Stampfer M, Stern MC, Stevens VL, Stolzenberg-Solomon RS, Su J, Su WC, Sund M, Sung JS, Sung SW, Tan W, Tang W, Tardón A, Thomas D, Thompson CA, Tinker LF, Tirabosco R, Tjønneland A, Travis RC, Trichopoulos D, Tsai FY, Tsai YH, Tucker M, Turner J, Vajdic CM, Vermeulen RC, Villano DJ, Vineis P, Virtamo J, Visvanathan K, Wactawski-Wende J, Wang C, Wang CL, Wang JC, Wang J, Wei F, Weiderpass E, Weiner GJ, Weinstein S, Wentzensen N, White E, Witzig TE, Wolpin BM, Wong MP, Wu C, Wu G, Wu J, Wu T, Wu W, Wu X, Wu YL, Wunder JS, Xiang YB, Xu J, Xu P, Yang PC, Yang TY, Ye Y, Yin Z, Yokota J, Yoon HI, Yu CJ, Yu H, Yu K, Yuan JM, Zelenetz A, Zeleniuch-Jacquotte A, Zhang XC, Zhang Y, Zhao X, Zhao Z, Zheng H, Zheng T, Zheng W, Zhou B, Zhu M, Zucca M, Boca SM, Cerhan JR, Ferri GM, Hartge P, Hsiung CA, Magnani C, Miligi L, Morton LM, Smedby KE, Teras LR, Vijai J, Wang SS, Brennan P, Caporaso NE, Hunter DJ, Kraft P, Rothman N, Silverman DT, Slager SL, Chanock SJ, Chatterjee N. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types. Journal Of The National Cancer Institute 2015, 107: djv279. PMID: 26464424, PMCID: PMC4806328, DOI: 10.1093/jnci/djv279.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAsian PeopleBone NeoplasmsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansKidney NeoplasmsLeukemia, Lymphocytic, Chronic, B-CellLung NeoplasmsLymphoma, Large B-Cell, DiffuseMaleMiddle AgedNeoplasmsOsteosarcomaPolymorphism, Single NucleotideSmokingTesticular NeoplasmsTissue Array AnalysisUrinary Bladder NeoplasmsWhite PeopleConceptsChronic lymphocytic leukemiaPairs of cancerLarge B-cell lymphomaCancer case patientsSmoking-related cancersSingle nucleotide polymorphismsB-cell lymphomaUS National Cancer InstituteNational Cancer InstituteGenome-wide association studiesControl patientsCase patientsCommon single nucleotide polymorphismsCigarette smokingSmoking populationPediatric osteosarcomaSmoking characteristicsLung cancerBladder cancerLymphocytic leukemiaAnatomical sitesCancer InstituteCancerCancer typesIndividual cancersEpithelial‐Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk
Amankwah EK, Lin H, Tyrer JP, Lawrenson K, Dennis J, Chornokur G, Aben KK, Anton‐Culver H, Antonenkova N, Bruinsma F, Bandera EV, Bean YT, Beckmann MW, Bisogna M, Bjorge L, Bogdanova N, Brinton LA, Brooks‐Wilson A, Bunker CH, Butzow R, Campbell IG, Carty K, Chen Z, Chen YA, Chang‐Claude J, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Dansonka‐Mieszkowska A, du Bois A, Despierre E, Dicks E, Doherty JA, Dörk T, Dürst M, Easton DF, Eccles DM, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gao Y, Gentry‐Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harrington P, Harter P, Hasmad HN, Hein A, Heitz F, Hildebrandt MA, Hillemanns P, Hogdall CK, Hogdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji B, Karlan BY, Jim H, Kellar M, Kiemeney LA, Krakstad C, Kjaer SK, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lim BK, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Milne RL, Modugno F, Moysich KB, Ness RB, Nevanlinna H, Eilber U, Odunsi K, Olson SH, Orlow I, Orsulic S, Weber RP, Paul J, Pearce CL, Pejovic T, Pelttari LM, Permuth‐Wey J, Pike MC, Poole EM, Risch HA, Rosen B, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schernhammer E, Schwaab I, Shu X, Shvetsov YB, Siddiqui N, Sieh W, Song H, Southey MC, Spiewankiewicz B, Sucheston‐Campbell L, Teo S, Terry KL, Thompson PJ, Thomsen L, Tangen IL, Tworoger SS, van Altena A, Vierkant RA, Vergote I, Walsh CS, Wang‐Gohrke S, Wentzensen N, Whittemore AS, Wicklund KG, Wilkens LR, Wu AH, Wu X, Woo Y, Yang H, Zheng W, Ziogas A, Kelemen LE, Berchuck A, group G, Schildkraut J, Ramus S, Goode E, Monteiro A, Gayther S, Narod S, Pharoah P, Sellers T, Phelan C. Epithelial‐Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk. Genetic Epidemiology 2015, 39: 689-697. PMID: 26399219, PMCID: PMC4721602, DOI: 10.1002/gepi.21921.Peer-Reviewed Original ResearchMiRNA-Related SNPs and Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus: Post Genome-Wide Association Analysis in the BEACON Consortium
Buas MF, Onstad L, Levine DM, Risch HA, Chow WH, Liu G, Fitzgerald RC, Bernstein L, Ye W, Bird NC, Romero Y, Casson AG, Corley DA, Shaheen NJ, Wu AH, Gammon MD, Reid BJ, Hardie LJ, Peters U, Whiteman DC, Vaughan TL. MiRNA-Related SNPs and Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus: Post Genome-Wide Association Analysis in the BEACON Consortium. PLOS ONE 2015, 10: e0128617. PMID: 26039359, PMCID: PMC4454432, DOI: 10.1371/journal.pone.0128617.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAgedBarrett EsophagusCase-Control StudiesEsophageal NeoplasmsEsophagusFemaleGastroesophageal RefluxGene Expression RegulationGenetic LociGenome-Wide Association StudyHumansMaleMicroRNAsMiddle AgedObesityPolymorphism, Single NucleotideRisk FactorsSex FactorsSmokingWhite PeopleConceptsGenome-wide association studiesSingle nucleotide polymorphismsPost-transcriptional gene regulationGenome-wide association analysisMiRNA-related single nucleotide polymorphismsMiRNA gene lociSmall non-coding RNAsClasses of genesMiRNA-targeted mRNAsMiRNA biogenesis genesGenetic variantsNon-coding RNAsCommon genetic variantsGermline genetic variantsMiRNA genesBiogenesis genesGene regulationCore pathwaysGene locusAssociation studiesAssociation analysisGenesNucleotide polymorphismsNominal associationEuropean ancestry
2014
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer
Wolpin BM, Rizzato C, Kraft P, Kooperberg C, Petersen GM, Wang Z, Arslan AA, Beane-Freeman L, Bracci PM, Buring J, Canzian F, Duell EJ, Gallinger S, Giles GG, Goodman GE, Goodman PJ, Jacobs EJ, Kamineni A, Klein AP, Kolonel LN, Kulke MH, Li D, Malats N, Olson SH, Risch HA, Sesso HD, Visvanathan K, White E, Zheng W, Abnet CC, Albanes D, Andreotti G, Austin MA, Barfield R, Basso D, Berndt SI, Boutron-Ruault MC, Brotzman M, Büchler MW, Bueno-de-Mesquita HB, Bugert P, Burdette L, Campa D, Caporaso NE, Capurso G, Chung C, Cotterchio M, Costello E, Elena J, Funel N, Gaziano JM, Giese NA, Giovannucci EL, Goggins M, Gorman MJ, Gross M, Haiman CA, Hassan M, Helzlsouer KJ, Henderson BE, Holly EA, Hu N, Hunter DJ, Innocenti F, Jenab M, Kaaks R, Key TJ, Khaw KT, Klein EA, Kogevinas M, Krogh V, Kupcinskas J, Kurtz RC, LaCroix A, Landi MT, Landi S, Le Marchand L, Mambrini A, Mannisto S, Milne RL, Nakamura Y, Oberg AL, Owzar K, Patel AV, Peeters PH, Peters U, Pezzilli R, Piepoli A, Porta M, Real FX, Riboli E, Rothman N, Scarpa A, Shu XO, Silverman DT, Soucek P, Sund M, Talar-Wojnarowska R, Taylor PR, Theodoropoulos GE, Thornquist M, Tjønneland A, Tobias GS, Trichopoulos D, Vodicka P, Wactawski-Wende J, Wentzensen N, Wu C, Yu H, Yu K, Zeleniuch-Jacquotte A, Hoover R, Hartge P, Fuchs C, Chanock SJ, Stolzenberg-Solomon RS, Amundadottir LT. Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. Nature Genetics 2014, 46: 994-1000. PMID: 25086665, PMCID: PMC4191666, DOI: 10.1038/ng.3052.Peer-Reviewed Original ResearchConsortium analysis of gene and gene–folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk
Kelemen LE, Terry KL, Goodman MT, Webb PM, Bandera EV, McGuire V, Rossing MA, Wang Q, Dicks E, Tyrer JP, Song H, Kupryjanczyk J, Dansonka‐Mieszkowska A, Plisiecka‐Halasa J, Timorek A, Menon U, Gentry‐Maharaj A, Gayther SA, Ramus SJ, Narod SA, Risch HA, McLaughlin JR, Siddiqui N, Glasspool R, Paul J, Carty K, Gronwald J, Lubiński J, Jakubowska A, Cybulski C, Kiemeney LA, Massuger LF, van Altena A, Aben KK, Olson SH, Orlow I, Cramer DW, Levine DA, Bisogna M, Giles GG, Southey MC, Bruinsma F, Kjær S, Høgdall E, Jensen A, Høgdall CK, Lundvall L, Engelholm S, Heitz F, du Bois A, Harter P, Schwaab I, Butzow R, Nevanlinna H, Pelttari LM, Leminen A, Thompson PJ, Lurie G, Wilkens LR, Lambrechts D, Van Nieuwenhuysen E, Lambrechts S, Vergote I, Beesley J, Investigators A, Fasching P, Beckmann M, Hein A, Ekici A, Doherty J, Wu A, Pearce C, Pike M, Stram D, Chang‐Claude J, Rudolph A, Dörk T, Dürst M, Hillemanns P, Runnebaum I, Bogdanova N, Antonenkova N, Odunsi K, Edwards R, Kelley J, Modugno F, Ness R, Karlan B, Walsh C, Lester J, Orsulic S, Fridley B, Vierkant R, Cunningham J, Wu X, Lu K, Liang D, Hildebrandt M, Weber R, Iversen E, Tworoger S, Poole E, Salvesen H, Krakstad C, Bjorge L, Tangen I, Pejovic T, Bean Y, Kellar M, Wentzensen N, Brinton L, Lissowska J, Garcia‐Closas M, Campbell I, Eccles D, Whittemore A, Sieh W, Rothstein J, Anton‐Culver H, Ziogas A, Phelan C, Moysich K, Goode E, Schildkraut J, Berchuck A, Pharoah P, Sellers T, Brooks‐Wilson A, Cook L, Le N. Consortium analysis of gene and gene–folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk. Molecular Nutrition & Food Research 2014, 58: 2023-2035. PMID: 25066213, PMCID: PMC4197821, DOI: 10.1002/mnfr.201400068.Peer-Reviewed Original ResearchCarcinomaCase-Control StudiesDietDietary SupplementsDihydrouracil Dehydrogenase (NADP)Energy IntakeFemaleFolic AcidFolic Acid DeficiencyGenetic Predisposition to DiseaseGenome-Wide Association StudyGlobal HealthHumansMultivariate AnalysisNeoplasm ProteinsOvarian NeoplasmsPolymorphism, Single NucleotideRisk FactorsWhite People
2013
Genome-wide association study of endometrial cancer in E2C2
De Vivo I, Prescott J, Setiawan VW, Olson SH, Wentzensen N, The Australian National Endometrial Cancer Study Group, Attia J, Black A, Brinton L, Chen C, Chen C, Cook LS, Crous-Bou M, Doherty J, Dunning AM, Easton DF, Friedenreich CM, Garcia-Closas M, Gaudet MM, Haiman C, Hankinson SE, Hartge P, Henderson BE, Holliday E, Horn-Ross PL, Hunter DJ, Le Marchand L, Liang X, Lissowska J, Long J, Lu L, Magliocco AM, McEvoy M, O’Mara T, Orlow I, Painter JN, Pooler L, Rastogi R, Rebbeck TR, Risch H, Sacerdote C, Schumacher F, Scott RJ, Sheng X, Shu XO, Spurdle AB, Thompson D, VanDen Berg D, Weiss NS, Xia L, Xiang YB, Yang HP, Yu H, Zheng W, Chanock S, Kraft P. Genome-wide association study of endometrial cancer in E2C2. Human Genetics 2013, 133: 211-224. PMID: 24096698, PMCID: PMC3898362, DOI: 10.1007/s00439-013-1369-1.Peer-Reviewed Original ResearchMeSH KeywordsAgedAsian PeopleBlack or African AmericanCase-Control StudiesCohort StudiesEndometrial NeoplasmsFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHepatocyte Nuclear Factor 1-betaHumansMiddle AgedPolymorphism, Single NucleotideRisk FactorsUnited StatesWhite PeopleConceptsGenome-wide association studiesSingle nucleotide polymorphismsTwo-stage genome-wide association studyAssociation studiesGenome-wide significanceIndependent single nucleotide polymorphismsNovel genetic polymorphismsHNF1B locusGenetic markersEuropean ancestryNovel variantsGenetic polymorphismsGenetic factorsEC susceptibilityPolymorphismLociCommon gynecological malignancyE2C2AncestryReplicationCancerVariantsAn Absolute Risk Model to Identify Individuals at Elevated Risk for Pancreatic Cancer in the General Population
Klein AP, Lindström S, Mendelsohn JB, Steplowski E, Arslan AA, Bueno-de-Mesquita HB, Fuchs CS, Gallinger S, Gross M, Helzlsouer K, Holly EA, Jacobs EJ, LaCroix A, Li D, Mandelson MT, Olson SH, Petersen GM, Risch HA, Stolzenberg-Solomon RZ, Zheng W, Amundadottir L, Albanes D, Allen NE, Bamlet WR, Boutron-Ruault MC, Buring JE, Bracci PM, Canzian F, Clipp S, Cotterchio M, Duell EJ, Elena J, Gaziano JM, Giovannucci EL, Goggins M, Hallmans G, Hassan M, Hutchinson A, Hunter DJ, Kooperberg C, Kurtz RC, Liu S, Overvad K, Palli D, Patel AV, Rabe KG, Shu XO, Slimani N, Tobias GS, Trichopoulos D, Van Den Eeden SK, Vineis P, Virtamo J, Wactawski-Wende J, Wolpin BM, Yu H, Yu K, Zeleniuch-Jacquotte A, Chanock SJ, Hoover RN, Hartge P, Kraft P. An Absolute Risk Model to Identify Individuals at Elevated Risk for Pancreatic Cancer in the General Population. PLOS ONE 2013, 8: e72311. PMID: 24058443, PMCID: PMC3772857, DOI: 10.1371/journal.pone.0072311.Peer-Reviewed Original ResearchConceptsPancreatic cancerRisk factorsAbsolute risk modelsAbsolute riskElevated riskGeneral populationLifetime absolute riskGenetic factorsPopulation incidence ratesGenetic risk factorsNon-Hispanic whitesHeavy alcohol useImmediate clinical utilityRisk modelCurrent smokingIncidence rateRelative riskFamily historyModifiable behaviorsClinical utilityU.S. non-Hispanic whitesCancerAverage riskAlcohol useNon-genetic factors
2012
Genetic variation in C20orf54, PLCE1 and MUC1 and the risk of upper gastrointestinal cancers in Caucasian populations
Palmer AJ, Lochhead P, Hold GL, Rabkin CS, Chow WH, Lissowska J, Vaughan TL, Berry S, Gammon M, Risch H, El-Omar EM. Genetic variation in C20orf54, PLCE1 and MUC1 and the risk of upper gastrointestinal cancers in Caucasian populations. European Journal Of Cancer Prevention 2012, 21: 541-544. PMID: 22805490, PMCID: PMC3460062, DOI: 10.1097/cej.0b013e3283529b79.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultBiomarkers, TumorCarcinoma, Squamous CellCase-Control StudiesEsophageal NeoplasmsFemaleGastrointestinal NeoplasmsGenetic Predisposition to DiseaseHumansMaleMembrane Transport ProteinsMucin-1Phosphoinositide Phospholipase CPolandPolymorphism, Single NucleotidePrognosisRisk FactorsUnited StatesWhite PeopleConceptsUpper gastrointestinal cancerOesophageal squamous cell cancerSquamous cell cancerGastrointestinal cancerCancer casesRisk of GCCaucasian populationCell cancerOdds ratioOesophageal squamous cell carcinomaSquamous cell carcinomaConfidence intervalsCase-control studyIntestinal histological typeGastric cancer casesHistological typeCell carcinomaSimilar associationGC casesChinese populationFirst studyCancerLarge genome-wide association studiesMUC1AdenocarcinomaEuropean American Stratification in Ovarian Cancer Case Control Data: The Utility of Genome-Wide Data for Inferring Ancestry
Raska P, Iversen E, Chen A, Chen Z, Fridley BL, Permuth-Wey J, Tsai YY, Vierkant RA, Goode EL, Risch H, Schildkraut JM, Sellers TA, Barnholtz-Sloan J. European American Stratification in Ovarian Cancer Case Control Data: The Utility of Genome-Wide Data for Inferring Ancestry. PLOS ONE 2012, 7: e35235. PMID: 22590501, PMCID: PMC3348917, DOI: 10.1371/journal.pone.0035235.Peer-Reviewed Original ResearchConceptsGenome-wide SNP dataGenome-wide variationGenome-wide dataCommon inversion polymorphismAncestry informative marker panelAncestral variationInversion polymorphismPopulation structureChromosome 2SNP dataChromosome 6Chromosome 8AIM panelsCase-control sampleWide dataPopulation stratificationLactase geneEuropean variationMarker panelStudy sitesNorthern Europe
2010
Genetic Variation in the Prostate Stem Cell Antigen Gene and Upper Gastrointestinal Cancer in White Individuals
Lochhead P, Frank B, Hold GL, Rabkin CS, Ng MT, Vaughan TL, Risch HA, Gammon MD, Lissowska J, Weck MN, Raum E, Müller H, Illig T, Klopp N, Dawson A, McColl KE, Brenner H, Chow W, El–Omar E. Genetic Variation in the Prostate Stem Cell Antigen Gene and Upper Gastrointestinal Cancer in White Individuals. Gastroenterology 2010, 140: 435-441. PMID: 21070776, PMCID: PMC3031760, DOI: 10.1053/j.gastro.2010.11.001.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAntigens, NeoplasmCarcinoma, Squamous CellCase-Control StudiesEsophageal NeoplasmsFemaleGastritis, AtrophicGastrointestinal NeoplasmsGenetic Predisposition to DiseaseGPI-Linked ProteinsHelicobacter InfectionsHelicobacter pyloriHumansMaleNeoplasm ProteinsPolymorphism, Single NucleotideRiskWhite PeopleConceptsChronic atrophic gastritisNoncardia gastric cancerUpper gastrointestinal cancerGastric cancer casesProstate stem cell antigen (PSCA) geneCancer casesGastric cancerAtrophic gastritisGastrointestinal cancerRs2294008 polymorphismWhite individualsRisk allelesHelicobacter pylori-infected subjectsPylori-infected subjectsPopulation-based studySquamous cell carcinomaGastric cancer patientsGastric cardia cancerCase-control studyEsophageal cancer casesDiffuse histologic typeAntigen geneProximal cancersGastric atrophyHistologic type
2009
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2
Song H, Ramus SJ, Tyrer J, Bolton KL, Gentry-Maharaj A, Wozniak E, Anton-Culver H, Chang-Claude J, Cramer DW, DiCioccio R, Dörk T, Goode EL, Goodman MT, Schildkraut JM, Sellers T, Baglietto L, Beckmann MW, Beesley J, Blaakaer J, Carney ME, Chanock S, Chen Z, Cunningham JM, Dicks E, Doherty JA, Dürst M, Ekici AB, Fenstermacher D, Fridley BL, Giles G, Gore ME, De Vivo I, Hillemanns P, Hogdall C, Hogdall E, Iversen ES, Jacobs IJ, Jakubowska A, Li D, Lissowska J, Lubiński J, Lurie G, McGuire V, McLaughlin J, Mędrek K, Moorman PG, Moysich K, Narod S, Phelan C, Pye C, Risch H, Runnebaum IB, Severi G, Southey M, Stram DO, Thiel FC, Terry KL, Tsai YY, Tworoger SS, Van Den Berg DJ, Vierkant RA, Wang-Gohrke S, Webb PM, Wilkens LR, Wu AH, Yang H, Brewster W, Ziogas A, Houlston R, Tomlinson I, Whittemore A, Rossing M, Ponder B, Pearce C, Ness R, Menon U, Kjaer S, Gronwald J, Garcia-Closas M, Fasching P, Easton D, Chenevix-Trench G, Berchuck A, Pharoah P, Gayther S. A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nature Genetics 2009, 41: 996-1000. PMID: 19648919, PMCID: PMC2844110, DOI: 10.1038/ng.424.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAustraliaBase SequenceCase-Control StudiesChromosome MappingChromosomes, Human, Pair 9Confidence IntervalsEuropeFemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHaplotypesHeterozygoteHomozygoteHumansLinkage DisequilibriumMolecular Sequence DataOdds RatioOvarian NeoplasmsPolymorphism, Single NucleotideRisk FactorsUnited StatesWhite PeopleCD14-159C/T and TLR9-1237T/C polymorphisms are not associated with gastric cancer risk in Caucasian populations
Hold GL, Rabkin CS, Gammon MD, Berry SH, Smith MG, Lissowska J, Risch HA, Chow WH, Mowat NA, Vaughan TL, El-Omar EM. CD14-159C/T and TLR9-1237T/C polymorphisms are not associated with gastric cancer risk in Caucasian populations. European Journal Of Cancer Prevention 2009, 18: 117-119. PMID: 19337058, PMCID: PMC2679029, DOI: 10.1097/cej.0b013e3283101292.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaCase-Control StudiesEsophageal NeoplasmsFemaleGene FrequencyGenetic Predisposition to DiseaseGenetics, PopulationHumansLinkage DisequilibriumLipopolysaccharide ReceptorsMalePolandPolymorphism, Single NucleotidePromoter Regions, GeneticRisk FactorsStomach NeoplasmsToll-Like Receptor 9United StatesWhite PeopleConceptsCD14-159C/TC promoter polymorphismCase-control studyGastric cancerPromoter polymorphismGastric cancer case-control studyTLR9 -1237T/C polymorphismPopulation-based case-control studyUpper gastrointestinal tract cancerHelicobacter pylori-induced gastritisCD14-159C/T polymorphismToll-like receptor signalingCaucasian populationFrequency-matched controlsGastrointestinal tract cancerPylori-induced gastritisUpper gastrointestinal tractCancer case-control studySingle nucleotide polymorphismsHost genetic factorsPotential confounding factorsGastric cancer riskTaiwanese Chinese populationGastric carcinoma casesNoncardia gastric carcinoma