2020
Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers
Zhang YD, Hurson AN, Zhang H, Choudhury PP, Easton DF, Milne RL, Simard J, Hall P, Michailidou K, Dennis J, Schmidt MK, Chang-Claude J, Gharahkhani P, Whiteman D, Campbell PT, Hoffmeister M, Jenkins M, Peters U, Hsu L, Gruber SB, Casey G, Schmit SL, O’Mara T, Spurdle AB, Thompson DJ, Tomlinson I, De Vivo I, Landi MT, Law MH, Iles MM, Demenais F, Kumar R, MacGregor S, Bishop DT, Ward SV, Bondy ML, Houlston R, Wiencke JK, Melin B, Barnholtz-Sloan J, Kinnersley B, Wrensch MR, Amos CI, Hung RJ, Brennan P, McKay J, Caporaso NE, Berndt SI, Birmann BM, Camp NJ, Kraft P, Rothman N, Slager SL, Berchuck A, Pharoah PDP, Sellers TA, Gayther SA, Pearce CL, Goode EL, Schildkraut JM, Moysich KB, Amundadottir LT, Jacobs EJ, Klein AP, Petersen GM, Risch HA, Stolzenberg-Solomon RZ, Wolpin BM, Li D, Eeles RA, Haiman CA, Kote-Jarai Z, Schumacher FR, Al Olama AA, Purdue MP, Scelo G, Dalgaard MD, Greene MH, Grotmol T, Kanetsky PA, McGlynn KA, Nathanson KL, Turnbull C, Wiklund F, Chanock S, Chatterjee N, Garcia-Closas M. Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers. Nature Communications 2020, 11: 3353. PMID: 32620889, PMCID: PMC7335068, DOI: 10.1038/s41467-020-16483-3.Peer-Reviewed Original ResearchTranscriptome‐wide association study of breast cancer risk by estrogen‐receptor status
Feng H, Gusev A, Pasaniuc B, Wu L, Long J, Abu‐full Z, Aittomäki K, Andrulis IL, Anton‐Culver H, Antoniou AC, Arason A, Arndt V, Aronson KJ, Arun BK, Asseryanis E, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barnes DR, Barrowdale D, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Białkowska K, Blanco A, Blomqvist C, Boeckx B, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brüning T, Burwinkel B, Cai Q, Caldés T, Caligo MA, Campbell I, Canisius S, Campa D, Carter BD, Carter J, Castelao JE, Chang‐Claude J, Chanock SJ, Christiansen H, Chung WK, Claes KBM, Clarke CL, Collaborators G, Collaborators E, Collaborators G, Couch FJ, Cox A, Cross SS, Cybulski C, Czene K, Daly MB, de la Hoya M, De Leeneer K, Dennis J, Devilee P, Diez O, Domchek SM, Dörk T, dos‐Santos‐Silva I, Dunning AM, Dwek M, Eccles DM, Ejlertsen B, Ellberg C, Engel C, Eriksson M, Fasching PA, Fletcher O, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gabrielson M, Ganz PA, Gapstur SM, Garber J, García‐Closas M, García‐Sáenz J, Gaudet MM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González‐Neira A, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hamann U, Hake C, He W, Heyworth J, Hogervorst FBL, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Huang G, Hulick PJ, Humphreys K, Imyanitov EN, Investigators A, Investigators H, Investigators B, Investigators O, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Jankowitz RC, John EM, Johnson N, Joseph V, Jung A, Karlan BY, Khusnutdinova E, Kiiski JI, Konstantopoulou I, Kristensen VN, Laitman Y, Lambrechts D, Lazaro C, Leroux D, Leslie G, Lester J, Lesueur F, Lindor N, Lindström S, Lo W, Loud JT, Lubiński J, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Martinez ME, Matricardi L, Maurer T, Mavroudis D, McGuffog L, Meindl A, Menon U, Michailidou K, Kapoor PM, Miller A, Montagna M, Moreno F, Moserle L, Mulligan AM, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Nevelsteen I, Nielsen FC, Nikitina‐Zake L, Offit K, Olah E, Olopade OI, Olsson H, Osorio A, Papp J, Park‐Simon T, Parsons MT, Pedersen IS, Peixoto A, Peterlongo P, Peto J, Pharoah PDP, Phillips K, Plaseska‐Karanfilska D, Poppe B, Pradhan N, Prajzendanc K, Presneau N, Punie K, Pylkäs K, Radice P, Rantala J, Rashid MU, Rennert G, Risch HA, Robson M, Romero A, Saloustros E, Sandler DP, Santos C, Sawyer EJ, Schmidt MK, Schmidt DF, Schmutzler RK, Schoemaker MJ, Scott RJ, Sharma P, Shu X, Simard J, Singer CF, Skytte A, Soucy P, Southey MC, Spinelli JJ, Spurdle AB, Stone J, Swerdlow AJ, Tapper WJ, Taylor JA, Teixeira MR, Terry MB, Teulé A, Thomassen M, Thöne K, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Torres D, Truong T, Tung N, Vachon CM, van Asperen C, van den Ouweland A, van Rensburg E, Vega A, Viel A, Vieiro‐Balo P, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Winqvist R, Yang XR, Yannoukakos D, Ziogas A, Milne RL, Easton DF, Chenevix‐Trench G, Zheng W, Kraft P, Jiang X. Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status. Genetic Epidemiology 2020, 44: 442-468. PMID: 32115800, PMCID: PMC7987299, DOI: 10.1002/gepi.22288.Peer-Reviewed Original ResearchConceptsTranscriptome-wide association studyAssociation studiesWide association studyExpression quantitative lociGene expression dataTWAS approachConditional analysisBreast cancer risk genesQuantitative lociGenomic differencesLarge GWASExpression dataCancer risk genesGenesRisk genesBreast cancer genesCancer geneticsEstrogen receptor subtypesGWASOverall breast cancer riskER subtypesGTExSTXBP4Breast cancer geneticsLoci
2019
No Association Between Vitamin D Status and Risk of Barrett's Esophagus or Esophageal Adenocarcinoma: A Mendelian Randomization Study
Dong J, Gharahkhani P, Chow WH, Gammon MD, Liu G, Caldas C, Wu AH, Ye W, Onstad L, Anderson LA, Bernstein L, Pharoah PD, Risch HA, Corley DA, Fitzgerald RC, Consortium S, Iyer PG, Reid BJ, Lagergren J, Shaheen NJ, Vaughan TL, MacGregor S, Love S, Palles C, Tomlinson I, Gockel I, May A, Gerges C, Anders M, Böhmer AC, Becker J, Kreuser N, Thieme R, Noder T, Venerito M, Veits L, Schmidt T, Schmidt C, Izbicki JR, Hölscher AH, Lang H, Lorenz D, Schumacher B, Mayershofer R, Vashist Y, Ott K, Vieth M, Weismüller J, Nöthen MM, Moebus S, Knapp M, Peters WHM, Neuhaus H, Rösch T, Ell C, Jankowski J, Schumacher J, Neale RE, Whiteman DC, Thrift AP. No Association Between Vitamin D Status and Risk of Barrett's Esophagus or Esophageal Adenocarcinoma: A Mendelian Randomization Study. Clinical Gastroenterology And Hepatology 2019, 17: 2227-2235.e1. PMID: 30716477, PMCID: PMC6675666, DOI: 10.1016/j.cgh.2019.01.041.Peer-Reviewed Original ResearchConceptsRisk of BEMendelian randomization studyBarrett's esophagusEsophageal adenocarcinomaInverse variance weightingRandomization studyRisk of EACHydroxy vitamin DVitamin D statusVariance weightingEsophageal Adenocarcinoma ConsortiumD statusEAC riskVitamin DOdds ratioBE riskEsophagusAbstractTextL increaseSingle nucleotide polymorphismsConflicting resultsAdenocarcinomaPatientsSNP associationsRisk
2018
Interactions Between Genetic Variants and Environmental Factors Affect Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus
Dong J, Levine DM, Buas MF, Zhang R, Onstad L, Fitzgerald RC, Consortium S, Corley DA, Shaheen NJ, Lagergren J, Hardie LJ, Reid BJ, Iyer PG, Risch HA, Caldas C, Caldas I, Pharoah PD, Liu G, Gammon MD, Chow WH, Bernstein L, Bird NC, Ye W, Wu AH, Anderson LA, MacGregor S, Whiteman DC, Vaughan TL, Thrift AP. Interactions Between Genetic Variants and Environmental Factors Affect Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus. Clinical Gastroenterology And Hepatology 2018, 16: 1598-1606.e4. PMID: 29551738, PMCID: PMC6162842, DOI: 10.1016/j.cgh.2018.03.007.Peer-Reviewed Original ResearchConceptsRisk of EACGastroesophageal reflux diseaseBarrett's esophagusEsophageal adenocarcinomaGERD symptomsWide association studySmoking statusSymptoms of GERDChromosome 1p34.3Environmental factorsChromosome 2p25.1Association of BMIChromosome 1Borderline significant interactionAssociation studiesGene studiesOesophageal cancer studiesSusceptibility lociCase-control logistic regressionGenesChromosome 15q14Genetic variantsReflux diseaseSmoking historyBMI measurements
2017
Determining Risk of Barrett’s Esophagus and Esophageal Adenocarcinoma Based on Epidemiologic Factors and Genetic Variants
Dong J, Buas MF, Gharahkhani P, Kendall BJ, Onstad L, Zhao S, Anderson LA, Wu AH, Ye W, Bird NC, Bernstein L, Chow WH, Gammon MD, Liu G, Caldas C, Pharoah PD, Risch HA, Iyer PG, Reid BJ, Hardie LJ, Lagergren J, Shaheen NJ, Corley DA, Fitzgerald RC, consortium S, Whiteman DC, Vaughan TL, Thrift AP. Determining Risk of Barrett’s Esophagus and Esophageal Adenocarcinoma Based on Epidemiologic Factors and Genetic Variants. Gastroenterology 2017, 154: 1273-1281.e3. PMID: 29247777, PMCID: PMC5880715, DOI: 10.1053/j.gastro.2017.12.003.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaArea Under CurveAustraliaBarrett EsophagusCase-Control StudiesDatabases, FactualDecision Support TechniquesEsophageal NeoplasmsEuropeFemaleGene-Environment InteractionGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLife StyleLogistic ModelsMaleMiddle AgedModels, GeneticMolecular EpidemiologyMultifactorial InheritanceNorth AmericaOdds RatioPhenotypePolymorphism, Single NucleotidePredictive Value of TestsRisk AssessmentRisk FactorsROC CurveConceptsGastroesophageal reflux diseaseBarrett's esophagusEsophageal adenocarcinomaLifestyle factorsPolygenic risk scoresGERD symptomsNon-genetic factorsDemographic/lifestyle factorsNet reclassification improvementCharacteristic curve analysisAUC valuesRisk prediction modelEsophageal cancer studyInternational Barrett'sReflux diseaseHighest quartileNet reclassificationEpidemiologic factorsReclassification improvementLowest quartileHigh riskRisk scorePatientsEsophagusAbstractTextAssociation Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study
Haycock P, Burgess S, Nounu A, Zheng J, Okoli G, Bowden J, Wade K, Timpson N, Evans D, Willeit P, Aviv A, Gaunt T, Hemani G, Mangino M, Ellis H, Kurian K, Pooley K, Eeles R, Lee J, Fang S, Chen W, Law M, Bowdler L, Iles M, Yang Q, Worrall B, Markus H, Hung R, Amos C, Spurdle A, Thompson D, O’Mara T, Wolpin B, Amundadottir L, Stolzenberg-Solomon R, Trichopoulou A, Onland-Moret N, Lund E, Duell E, Canzian F, Severi G, Overvad K, Gunter M, Tumino R, Svenson U, van Rij A, Baas A, Bown M, Samani N, van t’Hof F, Tromp G, Jones G, Kuivaniemi H, Elmore J, Johansson M, Mckay J, Scelo G, Carreras-Torres R, Gaborieau V, Brennan P, Bracci P, Neale R, Olson S, Gallinger S, Li D, Petersen G, Risch H, Klein A, Han J, Abnet C, Freedman N, Taylor P, Maris J, Aben K, Kiemeney L, Vermeulen S, Wiencke J, Walsh K, Wrensch M, Rice T, Turnbull C, Litchfield K, Paternoster L, Standl M, Abecasis G, SanGiovanni J, Li Y, Mijatovic V, Sapkota Y, Low S, Zondervan K, Montgomery G, Nyholt D, van Heel D, Hunt K, Arking D, Ashar F, Sotoodehnia N, Woo D, Rosand J, Comeau M, Brown W, Silverman E, Hokanson J, Cho M, Hui J, Ferreira M, Thompson P, Morrison A, Felix J, Smith N, Christiano A, Petukhova L, Betz R, Fan X, Zhang X, Zhu C, Langefeld C, Thompson S, Wang F, Lin X, Schwartz D, Fingerlin T, Rotter J, Cotch M, Jensen R, Munz M, Dommisch H, Schaefer A, Han F, Ollila H, Hillary R, Albagha O, Ralston S, Zeng C, Zheng W, Shu X, Reis A, Uebe S, Hüffmeier U, Kawamura Y, Otowa T, Sasaki T, Hibberd M, Davila S, Xie G, Siminovitch K, Bei J, Zeng Y, Försti A, Chen B, Landi S, Franke A, Fischer A, Ellinghaus D, Flores C, Noth I, Ma S, Foo J, Liu J, Kim J, Cox D, Delattre O, Mirabeau O, Skibola C, Tang C, Garcia-Barcelo M, Chang K, Su W, Chang Y, Martin N, Gordon S, Wade T, Lee C, Kubo M, Cha P, Nakamura Y, Levy D, Kimura M, Hwang S, Hunt S, Spector T, Soranzo N, Manichaikul A, Barr R, Kahali B, Speliotes E, Yerges-Armstrong L, Cheng C, Jonas J, Wong T, Fogh I, Lin K, Powell J, Rice K, Relton C, Martin R, Smith G. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. JAMA Oncology 2017, 3: 636-651. PMID: 28241208, PMCID: PMC5638008, DOI: 10.1001/jamaoncol.2016.5945.Peer-Reviewed Original ResearchConceptsGermline genetic variationGenomewide association studiesGenetic variationSingle nucleotide polymorphismsTelomere lengthStem cell divisionSummary association statisticsGermline genetic variantsCell divisionAssociation studiesLonger telomeresGenetic variantsNucleotide polymorphismsAssociation statisticsTelomeresSummary dataLung adenocarcinomaKidney cancerNon-neoplastic diseasesPolymorphismVariationTissue sitesCancerOvarian cancerDivision
2016
Risk Prediction for Epithelial Ovarian Cancer in 11 United States–Based Case-Control Studies: Incorporation of Epidemiologic Risk Factors and 17 Confirmed Genetic Loci
Clyde MA, Weber R, Iversen ES, Poole EM, Doherty JA, Goodman MT, Ness RB, Risch HA, Rossing MA, Terry KL, Wentzensen N, Whittemore AS, Anton-Culver H, Bandera EV, Berchuck A, Carney ME, Cramer DW, Cunningham JM, Cushing-Haugen KL, Edwards RP, Fridley BL, Goode EL, Lurie G, McGuire V, Modugno F, Moysich KB, Olson SH, Pearce CL, Pike MC, Rothstein JH, Sellers TA, Sieh W, Stram D, Thompson PJ, Vierkant RA, Wicklund KG, Wu AH, Ziogas A, Tworoger SS, Schildkraut JM. Risk Prediction for Epithelial Ovarian Cancer in 11 United States–Based Case-Control Studies: Incorporation of Epidemiologic Risk Factors and 17 Confirmed Genetic Loci. American Journal Of Epidemiology 2016, 184: 579-589. PMID: 27698005, PMCID: PMC5065620, DOI: 10.1093/aje/kww091.Peer-Reviewed Original ResearchConceptsEpidemiologic risk factorsEpithelial ovarian cancerYears of ageRisk factorsAbsolute riskOvarian cancerInvasive epithelial ovarian cancerCase-control studyOvarian Cancer Association ConsortiumHierarchical logistic regression modelsRisk prediction modelLogistic regression modelsProspective data setSignificant single nucleotide polymorphismsCase-control statusControl studyRisk predictionSingle nucleotide polymorphismsAgeCancerLow discriminatory powerWomenAUCRegression modelsNucleotide polymorphismsAssociation Between Menopausal Estrogen-Only Therapy and Ovarian Carcinoma Risk
Lee AW, Ness RB, Roman LD, Terry KL, Schildkraut JM, Chang-Claude J, Doherty JA, Menon U, Cramer DW, Gayther SA, Risch H, Gentry-Maharaj A, Goodman MT, Modugno F, Eilber U, Moysich KB, Berchuck A, Rossing MA, Jensen A, Wicklund KG, Cushing-Haugen KL, Hogdall E, Rudolph A, Thompson PJ, Wilkens LR, Kjaer SK, Carney ME, Stram DO, Ramus SJ, Wu AH, Pike MC, Pearce CL. Association Between Menopausal Estrogen-Only Therapy and Ovarian Carcinoma Risk. Obstetrics And Gynecology 2016, 127: 828-836. PMID: 27054934, PMCID: PMC4892111, DOI: 10.1097/aog.0000000000001387.Peer-Reviewed Original ResearchConceptsEndometrioid ovarian carcinomaTherapy useOvarian carcinomaPostmenopausal estrogenControl groupPopulation-based case-control studyCase-control studyOvarian carcinoma histotypesOvarian carcinoma riskConditional logistic regressionOvarian Cancer Association ConsortiumSerous ovarian carcinomaDuration of useTiming of useTherapy usersMenopausal estrogensPooled analysisRisk factorsSelf-reported questionnaire dataCarcinoma riskCarcinomaEstrogenRecent usersLogistic regressionHistotypeRisk Factors for Early-Onset and Very-Early-Onset Pancreatic Adenocarcinoma
McWilliams RR, Maisonneuve P, Bamlet WR, Petersen GM, Li D, Risch HA, Yu H, Fontham ET, Luckett B, Bosetti C, Negri E, La Vecchia C, Talamini R, de Mesquita H, Bracci P, Gallinger S, Neale RE, Lowenfels AB. Risk Factors for Early-Onset and Very-Early-Onset Pancreatic Adenocarcinoma. Pancreas 2016, 45: 311-316. PMID: 26646264, PMCID: PMC4710562, DOI: 10.1097/mpa.0000000000000392.Peer-Reviewed Original ResearchConceptsEarly onset pancreatic cancerPancreatic cancerAge-dependent effectsRisk factorsFamily historySex-matched control subjectsDiagnosis of PCCase-control studyLogistic regression analysisPC patientsDiabetes mellitusAlcohol intakeControl subjectsOdds ratioPancreatic adenocarcinomaEarly onsetPatientsOlder adultsStrong associationObesitySmokingRegression analysisRiskAssociationComprehensive assessment
2015
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q, Barrowdale D, Frost D, EMBRACE, McGuffog L, Ellis S, Feng B, Buys S, Hopper J, Southey M, Tesoriero A, Investigators K, James P, Bruinsma F, Campbell I, Group A, Broeks A, Schmidt M, Hogervorst F, HEBON, Beckman M, Fasching P, Fletcher O, Johnson N, Sawyer E, Riboli E, Banerjee S, Menon U, Tomlinson I, Burwinkel B, Hamann U, Marme F, Rudolph A, Janavicius R, Tihomirova L, Tung N, Garber J, Cramer D, Terry K, Poole E, Tworoger S, Dorfling C, van Rensburg E, Godwin A, Guénel P, Truong T, Collaborators G, Stoppa-Lyonnet D, Damiola F, Mazoyer S, Sinilnikova O, Isaacs C, Maugard C, Bojesen S, Flyger H, Gerdes A, Hansen T, Jensen A, Kjaer S, Hogdall C, Hogdall E, Pedersen I, Thomassen M, Benitez J, González-Neira A, Osorio A, de la Hoya M, Segura P, Diez O, Lazaro C, Brunet J, Anton-Culver H, Eunjung L, John E, Neuhausen S, Ding Y, Castillo D, Weitzel J, Ganz P, Nussbaum R, Chan S, Karlan B, Lester J, Wu A, Gayther S, Ramus S, Sieh W, Whittermore A, Monteiro A, Phelan C, Terry M, Piedmonte M, Offit K, Robson M, Levine D, Moysich K, Cannioto R, Olson S, Daly M, Nathanson K, Domchek S, Lu K, Liang D, Hildebrant M, Ness R, Modugno F, Pearce L, Goodman M, Thompson P, Brenner H, Butterbach K, Meindl A, Hahnen E, Wappenschmidt B, Brauch H, Brüning T, Blomqvist C, Khan S, Nevanlinna H, Pelttari L, Aittomäki K, Butzow R, Bogdanova N, Dörk T, Lindblom A, Margolin S, Rantala J, Kosma V, Mannermaa A, Lambrechts D, Neven P, Claes K, Van Maerken T, Chang-Claude J, Flesch-Janys D, Heitz F, Varon-Mateeva R, Peterlongo P, Radice P, Viel A, Barile M, Peissel B, Manoukian S, Montagna M, Oliani C, Peixoto A, Teixeira M, Collavoli A, Hallberg E, Olson J, Goode E, Hart S, Shimelis H, Cunningham J, Giles G, Milne R, Healey S, Tucker K, Haiman C, Henderson B, Goldberg M, Tischkowitz M, Simard J, Soucy P, Eccles D, Le N, Borresen-Dale A, Kristensen V, Salvesen H, Bjorge L, Bandera E, Risch H, Zheng W, Beeghly-Fadiel A, Cai H, Pylkäs K, Tollenaar R, van der Ouweland A, Andrulis I, Knight J, OCGN, Narod S, Devilee P, Winqvist R, Figueroa J, Greene M, L. P, Loud J, García-Closas M, Schoemaker M, Czene K, Darabi H, McNeish I, Siddiquil N, Glasspool R, Kwong A, Park S, Teo S, Yoon S, Matsuo K, Hosono S, Woo Y, Gao Y, Foretova L, Singer C, Rappaport-Feurhauser C, Friedman E, Laitman Y, Rennert G, Imyanitov E, Hulick P, Olopade O, Senter L, Olah E, Doherty J, Schildkraut J, Koppert L, Kiemeney L, Massuger L, Cook L, Pejovic T, Li J, Borg A, Öfverholm A, Rossing M, Wentzensen N, Henriksson K, Cox A, Cross S, Pasini B, Shah M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Gronwald J, Agnarsson B, Kupryjanczyk J, Moes-Sosnowska J, Fostira F, Konstantopoulou I, Slager S, Jones M, in the genome P, Antoniou A, Berchuck A, Swerdlow A, Chenevix-Trench G, Dunning A, Pharoah P, Hall P, Easton D, Couch F, Spurdle A, Goldgar D. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. Journal Of The National Cancer Institute 2015, 108: djv315. PMID: 26586665, PMCID: PMC4907358, DOI: 10.1093/jnci/djv315.Peer-Reviewed Original ResearchConceptsOvarian cancerBreast cancerVariant carriersCancer riskEstrogen receptor-negative breast cancerReceptor-negative breast cancerCancer case patientsInvasive ovarian cancerHormone-related cancersProstate cancer riskConfidence intervalsOvarian cancer riskSignificant inverse associationCox proportional hazardsSerous ovarian cancerRisk of breastBRCA1 mutation carriersPathogenic BRCA2 variantsControl patientsCase patientsInverse associationOdds ratioProstate cancerMutation carriersProportional hazardsEvidence 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 ResearchDetectable Symptomatology Preceding the Diagnosis of Pancreatic Cancer and Absolute Risk of Pancreatic Cancer Diagnosis
Risch HA, Yu H, Lu L, Kidd MS. Detectable Symptomatology Preceding the Diagnosis of Pancreatic Cancer and Absolute Risk of Pancreatic Cancer Diagnosis. American Journal Of Epidemiology 2015, 182: 26-34. PMID: 26049860, PMCID: PMC4479115, DOI: 10.1093/aje/kwv026.Peer-Reviewed Original ResearchConceptsPancreatic cancer diagnosisAbsolute riskPancreatic cancerRecent diagnosisRisk factorsEnd Results (SEER) incidence dataUS Surveillance EpidemiologyCancer diagnosisCurrent cigarette smokingLow lifetime riskABO blood groupDiabetes mellitusSurveillance EpidemiologyCigarette smokingSurvival durationLifetime riskHigh riskPancreatic causesCancerBlood groupRisk estimatesDiagnosisIncidence dataSymptomatologyRiskOccupational exposure to N-nitrosamines and pesticides and risk of pancreatic cancer
Fritschi L, Benke G, Risch HA, Schulte A, Webb PM, Whiteman DC, Fawcett J, Neale RE. Occupational exposure to N-nitrosamines and pesticides and risk of pancreatic cancer. Occupational And Environmental Medicine 2015, 72: 678. PMID: 25780030, DOI: 10.1136/oemed-2014-102522.Peer-Reviewed Original ResearchConceptsCase-control studyOccupational exposurePancreatic cancerPopulation-based case-control studyLarge case-control studyLifetime job historiesPancreatic cancer developmentCigarette smokingLifestyle factorsFrequency of exposureLikelihood of exposureAnimal evidenceIncrease riskPancreatic carcinogenCancer developmentN-nitrosaminesOccupational hygienistsCancerSuch exposureJob historyRiskExposureAssociationSmokingSpecific questions
2014
Obesity and Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus: A Mendelian Randomization Study
Thrift AP, Shaheen NJ, Gammon MD, Bernstein L, Reid BJ, Onstad L, Risch HA, Liu G, Bird NC, Wu AH, Corley DA, Romero Y, Chanock SJ, Chow WH, Casson AG, Levine DM, Zhang R, Ek WE, MacGregor S, Ye W, Hardie LJ, Vaughan TL, Whiteman DC. Obesity and Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus: A Mendelian Randomization Study. Journal Of The National Cancer Institute 2014, 106: dju252. PMID: 25269698, PMCID: PMC4200028, DOI: 10.1093/jnci/dju252.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedBarrett EsophagusBody Mass IndexEsophageal NeoplasmsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMendelian Randomization AnalysisMiddle AgedObesityPolymorphism, Single NucleotidePrecancerous ConditionsPredictive Value of TestsRisk AssessmentRisk FactorsConceptsBody mass indexBarrett's esophagusEsophageal adenocarcinomaGenetic risk scoreConventional epidemiologic analysisRisk scoreEpidemiologic analysisRisk of EACLifetime body mass indexInstrumental variable analysisGastroesophageal reflux symptomsMendelian randomization studyMendelian randomization approachGenetic susceptibility studiesGenetic propensityReflux symptomsMass indexEAC riskPotential confoundersEsophageal metaplasiaObservational studyHigh riskObesityUnconfounded effectRandomization studyCigarette smoking and pancreatic cancer risk: More to the story than just pack-years
Schulte A, Pandeya N, Tran B, Fawcett J, Fritschi L, Risch HA, Webb PM, Whiteman DC, Neale RE, Group Q. Cigarette smoking and pancreatic cancer risk: More to the story than just pack-years. European Journal Of Cancer 2014, 50: 997-1003. PMID: 24461200, DOI: 10.1016/j.ejca.2013.12.014.Peer-Reviewed Original ResearchConceptsPancreatic cancer riskCigarette smokingOdds ratioPancreatic adenocarcinomaCancer riskAustralian population-based case-control studyPopulation-based case-control studyLogistic regressionPancreatic cancer patientsConfidence intervalsCase-control studyPancreatic cancer studiesCurrent smokersAlcohol intakeSmoking patternsCancer patientsPancreatic cancerRisk factorsSmoking componentSmokingDisease riskRisk estimatesCancer studiesSmokersAdenocarcinoma
2013
PPM1D Mutations in Circulating White Blood Cells and the Risk for Ovarian Cancer
Akbari MR, Lepage P, Rosen B, McLaughlin J, Risch H, Minden M, Narod SA. PPM1D Mutations in Circulating White Blood Cells and the Risk for Ovarian Cancer. Journal Of The National Cancer Institute 2013, 106: djt323. PMID: 24262437, DOI: 10.1093/jnci/djt323.Peer-Reviewed Original ResearchMeSH KeywordsAgedBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCanadaCase-Control StudiesFemaleGenetic Predisposition to DiseaseHeterozygoteHumansIncidenceLeukocytesMiddle AgedMutationOdds RatioOvarian NeoplasmsPhosphoprotein PhosphatasesProportional Hazards ModelsProtein Phosphatase 2CRisk AssessmentRisk FactorsConceptsCase patientsWhite blood cellsOvarian cancerControl subjectsOvarian cancer case patientsFemale first-degree relativesBlood cellsCancer case patientsFirst-degree relativesLifetime riskBreast cancerFamily historyMutation carriersPatientsCancerPast historyTruncating mutationsBreastRiskMutationsSubjectsCellsNoncarriersMortalityWomenGermline Genetic Contributions to Risk for Esophageal Adenocarcinoma, Barrett’s Esophagus, and Gastroesophageal Reflux
Ek WE, Levine DM, D’Amato M, Pedersen NL, Magnusson PK, Bresso F, Onstad LE, Schmidt PT, Törnblom H, Nordenstedt H, Romero Y, , Chow W, Murray L, Gammon M, Liu G, Bernstein L, Casson A, Risch H, Shaheen N, Bird N, Reid B, Corley D, Hardie L, Ye W, Wu A, Zucchelli M, Spector T, Hysi P, Vaughan T, Whiteman D, MacGregor S. Germline Genetic Contributions to Risk for Esophageal Adenocarcinoma, Barrett’s Esophagus, and Gastroesophageal Reflux. Journal Of The National Cancer Institute 2013, 105: 1711-1718. PMID: 24168968, PMCID: PMC3833931, DOI: 10.1093/jnci/djt303.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedBarrett EsophagusCase-Control StudiesChromosome DisordersEsophageal NeoplasmsFemaleGastroesophageal RefluxGenome-Wide Association StudyGerm-Line MutationHumansMaleMiddle AgedPolymorphism, Single NucleotidePredictive Value of TestsPrevalenceRisk AssessmentRisk FactorsSex FactorsSoftwareTwin Studies as TopicThe Healthy Eating Index 2005 and Risk for Pancreatic Cancer in the NIH–AARP Study
Arem H, Reedy J, Sampson J, Jiao L, Hollenbeck AR, Risch H, Mayne ST, Stolzenberg-Solomon RZ. The Healthy Eating Index 2005 and Risk for Pancreatic Cancer in the NIH–AARP Study. Journal Of The National Cancer Institute 2013, 105: 1298-1305. PMID: 23949329, PMCID: PMC3760780, DOI: 10.1093/jnci/djt185.Peer-Reviewed Original ResearchConceptsHealthy Eating Index 2005Pancreatic cancer riskPancreatic cancerHazard ratioDietary guidelinesCancer riskExocrine pancreatic cancer casesOverweight/obese menCox proportional hazards regressionHealth-American AssociationP-interaction valuesRetired Persons DietFood frequency questionnaireNormal-weight menDietary pattern analysisBody mass indexProportional hazards regressionConfidence intervalsPancreatic cancer casesNIH-AARP studyFrequency questionnaireObese menMass indexHazards regressionWeight menA 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 sequencesLociRecent alcohol consumption and risk of incident ovarian carcinoma: a pooled analysis of 5,342 cases and 10,358 controls from the Ovarian Cancer Association Consortium
Kelemen LE, Bandera EV, Terry KL, Rossing MA, Brinton LA, Doherty JA, Ness RB, Kjær S, Chang-Claude J, Köbel M, Lurie G, Thompson PJ, Carney ME, Moysich K, Edwards R, Bunker C, Jensen A, Høgdall E, Cramer DW, Vitonis AF, Olson SH, King M, Chandran U, Lissowska J, Garcia-Closas M, Yang H, Webb PM, Schildkraut JM, Goodman MT, Risch HA, , on behalf of the Australian Ovarian Cancer Study Group and Australian Cancer Study (Ovarian Cancer), and on behalf of the Ovarian Cancer Association Consortium. Recent alcohol consumption and risk of incident ovarian carcinoma: a pooled analysis of 5,342 cases and 10,358 controls from the Ovarian Cancer Association Consortium. BMC Cancer 2013, 13: 28. PMID: 23339562, PMCID: PMC3568733, DOI: 10.1186/1471-2407-13-28.Peer-Reviewed Original ResearchConceptsOvarian carcinomaOvarian Cancer Association ConsortiumHistologic typeAlcohol intakeBorderline tumorsOdds ratioClear cell ovarian carcinomaOz/dModerate alcohol drinkingTumor histologic typeSpecific histologic typesCase-control studyConfidence intervalsRecent alcohol intakeRecent alcohol consumptionAverage daily intakeModifiable causesMucinous histologySmoking statusAlcohol drinkingStatistical heterogeneityOC casesRisk associationAlcohol consumptionDeadly cancer