2023
Risk prediction models for endometrial cancer: development and validation in an international consortium
Shi J, Kraft P, Rosner B, Benavente Y, Black A, Brinton L, Chen C, Clarke M, Cook L, Costas L, Dal Maso L, Freudenheim J, Frias-Gomez J, Friedenreich C, Garcia-Closas M, Goodman M, Johnson L, La Vecchia C, Levi F, Lissowska J, Lu L, McCann S, Moysich K, Negri E, O'Connell K, Parazzini F, Petruzella S, Polesel J, Ponte J, Rebbeck T, Reynolds P, Ricceri F, Risch H, Sacerdote C, Setiawan V, Shu X, Spurdle A, Trabert B, Webb P, Wentzensen N, Wilkens L, Xu W, Yang H, Yu H, Du M, De Vivo I. Risk prediction models for endometrial cancer: development and validation in an international consortium. Journal Of The National Cancer Institute 2023, 115: 552-559. PMID: 36688725, PMCID: PMC10165481, DOI: 10.1093/jnci/djad014.Peer-Reviewed Original ResearchConceptsNurses' Health StudyRisk prediction modelNHS IIEndometrial cancerHealth StudyGenetic factorsEndometrial cancer incidence ratesOvarian Cancer Screening TrialCancer risk prediction modelsEndometrial Cancer ConsortiumPostmenopausal white womenCancer Screening TrialCancer risk stratificationCase-control studyRisk factor distributionCancer incidence ratesRelative risk estimatesEpidemiologic modelHeterogeneous study populationsPublic health practiceProphylactic hysterectomyRisk stratificationEpidemiologic factorsIncidence rateSelect cohort
2020
Genome-Wide Gene–Diabetes and Gene–Obesity Interaction Scan in 8,255 Cases and 11,900 Controls from PanScan and PanC4 Consortia
Tang H, Jiang L, Stolzenberg-Solomon RZ, Arslan AA, Beane Freeman LE, Bracci PM, Brennan P, Canzian F, Du M, Gallinger S, Giles GG, Goodman PJ, Kooperberg C, Le Marchand L, Neale RE, Shu XO, Visvanathan K, White E, Zheng W, Albanes D, Andreotti G, Babic A, Bamlet WR, Berndt SI, Blackford A, Bueno-de-Mesquita B, Buring JE, Campa D, Chanock SJ, Childs E, Duell EJ, Fuchs C, Gaziano JM, Goggins M, Hartge P, Hassam MH, Holly EA, Hoover RN, Hung RJ, Kurtz RC, Lee IM, Malats N, Milne RL, Ng K, Oberg AL, Orlow I, Peters U, Porta M, Rabe KG, Rothman N, Scelo G, Sesso HD, Silverman DT, Thompson IM, Tjønneland A, Trichopoulou A, Wactawski-Wende J, Wentzensen N, Wilkens LR, Yu H, Zeleniuch-Jacquotte A, Amundadottir LT, Jacobs EJ, Petersen GM, Wolpin BM, Risch HA, Chatterjee N, Klein AP, Li D, Kraft P, Wei P. Genome-Wide Gene–Diabetes and Gene–Obesity Interaction Scan in 8,255 Cases and 11,900 Controls from PanScan and PanC4 Consortia. Cancer Epidemiology Biomarkers & Prevention 2020, 29: 1784-1791. PMID: 32546605, PMCID: PMC7483330, DOI: 10.1158/1055-9965.epi-20-0275.Peer-Reviewed Original ResearchConceptsSNP levelGenome-wide association study datasetGenome-wide levelGene-based analysisGWAS summary statisticsJoint effect testsGxE analysisGWAS top hitsPopulation substructureSignificant GxE interactionGene levelGene-environment interaction analysisAdditional genetic factorsTop hitsEnvironmental variablesGenetic variantsDiabetes/obesityGxE interactionsPancreatic cancerStudy sitesGenetic factorsMajor modifiable risk factorHit regionsModifiable risk factorsInteraction analysis
2019
Association Between Levels of Sex Hormones and Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus
Xie SH, Fang R, Huang M, Dai J, Thrift AP, Anderson LA, Chow WH, Bernstein L, Gammon MD, Risch HA, Shaheen NJ, Reid BJ, Wu AH, Iyer PG, Liu G, Corley DA, Whiteman DC, Caldas C, Pharoah PD, Hardie LJ, Fitzgerald RC, Shen H, Vaughan TL, Lagergren J. Association Between Levels of Sex Hormones and Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus. Clinical Gastroenterology And Hepatology 2019, 18: 2701-2709.e3. PMID: 31756444, PMCID: PMC7580878, DOI: 10.1016/j.cgh.2019.11.030.Peer-Reviewed Original ResearchConceptsRisk of BERisk of EACBarrett's esophagusMendelian randomization analysisSex hormonesOdds ratioRandomization analysisSex hormone-binding globulinSpecific sex hormonesFree androgen indexFollicle-stimulating hormoneHormone-binding globulinGenetic risk scoreAndrogen indexDecreased riskEsophageal adenocarcinomaRisk scoreEsophagusAbstractTextLogistic regressionHormoneClear associationControl participantsGenetic factorsWomen
2014
Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population
Chen MM, Crous-Bou M, Setiawan VW, Prescott J, Olson SH, Wentzensen N, Black A, Brinton L, Chen C, Chen C, Cook LS, Doherty J, Friedenreich CM, Hankinson SE, Hartge P, Henderson BE, Hunter DJ, Le Marchand L, Liang X, Lissowska J, Lu L, Orlow I, Petruzella S, Polidoro S, Pooler L, Rebbeck TR, Risch H, Sacerdote C, Schumacher F, Sheng X, Shu XO, Weiss NS, Xia L, Van Den Berg D, Yang HP, Yu H, Chanock S, Haiman C, Kraft P, De Vivo I. Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population. PLOS ONE 2014, 9: e97045. PMID: 24810602, PMCID: PMC4014590, DOI: 10.1371/journal.pone.0097045.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesExome-wide association studyAssociation studiesPrevious genome-wide association studyRare genetic variantsRare variantsHumanExome BeadChipGenetic variantsCommon variantsEndometrial cancerEC riskGenetic factorsEC pathogenesisGlobal significanceVariantsMultiethnic populationRisk of ECBeadChipEndometrial Cancer ConsortiumLociLarge effectCancer morbidityRisk factors
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