2023
Genetic Susceptibility to Nonalcoholic Fatty Liver Disease and Risk for Pancreatic Cancer: Mendelian Randomization.
King S, Veliginti S, Brouwers M, Ren Z, Zheng W, Setiawan V, Wilkens L, Shu X, Arslan A, Beane Freeman L, Bracci P, Canzian F, Du M, Gallinger S, Giles G, Goodman P, Haiman C, Kogevinas M, Kooperberg C, LeMarchand L, Neale R, Visvanathan K, White E, Albanes D, Andreotti G, Babic A, Berndt S, Brais L, Brennan P, Buring J, Rabe K, Bamlet W, Chanock S, Fuchs C, Gaziano J, Giovannucci E, Hackert T, Hassan M, Katzke V, Kurtz R, Lee I, Malats N, Murphy N, Oberg A, Orlow I, Porta M, Real F, Rothman N, Sesso H, Silverman D, Thompson I, Wactawski-Wende J, Wang X, Wentzensen N, Yu H, Zeleniuch-Jacquotte A, Yu K, Wolpin B, Duell E, Li D, Hung R, Perdomo S, McCullough M, Freedman N, Patel A, Peters U, Riboli E, Sund M, Tjønneland A, Zhong J, Van Den Eeden S, Kraft P, Risch H, Amundadottir L, Klein A, Stolzenberg-Solomon R, Antwi S. Genetic Susceptibility to Nonalcoholic Fatty Liver Disease and Risk for Pancreatic Cancer: Mendelian Randomization. Cancer Epidemiology Biomarkers & Prevention 2023, 32: 1265-1269. PMID: 37351909, PMCID: PMC10529823, DOI: 10.1158/1055-9965.epi-23-0453.Peer-Reviewed Original ResearchConceptsNonalcoholic fatty liver diseasePancreatic cancer riskFatty liver diseasePancreatic cancerCancer riskLiver diseaseGenetic predispositionMendelian randomizationPancreatic Cancer Case-Control ConsortiumConfidence intervalsPancreatic Cancer Cohort ConsortiumPC risk factorsMR methodsRisk factorsGenome-wide association studiesGenetic susceptibilityLogistic regressionCancerMetabolic perturbationsMetabolic conditionsRiskDiseaseGenetic variantsAssociationPredispositionLifetime ovulatory years and risk of epithelial ovarian cancer: a multinational pooled analysis
Fu Z, Brooks M, Irvin S, Jordan S, Aben K, Anton-Culver H, Bandera E, Beckmann M, Berchuck A, Brooks-Wilson A, Chang-Claude J, Cook L, Cramer D, Cushing-Haugen K, Doherty J, Ekici A, Fasching P, Fortner R, Gayther S, Gentry-Maharaj A, Giles G, Goode E, Goodman M, Group A, Harris H, Hein A, Kaaks R, Kiemeney L, Köbel M, Kotsopoulos J, Kotsopoulos J, Le N, Lee A, Matsuo K, McGuire V, McLaughlin J, Menon U, Milne R, Moysich K, Pearce C, Pike M, Qin B, Ramus S, Riggan M, Rothstein J, Schildkraut J, Sieh W, Sutphen R, Terry K, Thompson P, Titus L, van Altena A, White E, Whittemore A, Wu A, Zheng W, Ziogas A, Taylor S, Tang L, Songer T, Wentzensen N, Webb P, Risch H, Modugno F. Lifetime ovulatory years and risk of epithelial ovarian cancer: a multinational pooled analysis. Journal Of The National Cancer Institute 2023, 115: 539-551. PMID: 36688720, PMCID: PMC10165492, DOI: 10.1093/jnci/djad011.Peer-Reviewed Original ResearchConceptsEpithelial ovarian cancerOral contraceptive useClear cell histotypeOvulatory yearsOvulation suppressionOdds ratioOvarian cancerContraceptive useNonmucinous epithelial ovarian cancerConfidence intervalsConsistent protective effectCase patientsMucinous tumorsPooled analysisProtective effectEOC riskControl participantsHistotypeCancerOvulationAssociationRegression modelsRiskYearsBeta coefficients
2019
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
Qian F, Rookus MA, Leslie G, Risch HA, Greene MH, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arnold N, Arun BK, Ausems MGEM, Azzollini J, Barrowdale D, Barwell J, Benitez J, Białkowska K, Bonadona V, Borde J, Borg A, Bradbury AR, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Carter J, Chiquette J, Chung WK, Claes KBM, Collée JM, Collonge-Rame MA, Couch FJ, Daly MB, Delnatte C, Diez O, Domchek SM, Dorfling CM, Eason J, Easton DF, Eeles R, Engel C, Evans DG, Faivre L, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Gehrig A, Glendon G, Godwin AK, Gómez Garcia EB, Hamann U, Hauke J, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, Janavicius R, John EM, Karlan BY, Kets CM, Laitman Y, Lázaro C, Leroux D, Lester J, Lesueur F, Loud JT, Lubiński J, Łukomska A, McGuffog L, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Mouret-Fourme E, Nathanson KL, Nehoray B, Neuhausen SL, Nevanlinna H, Nielsen FC, Offit K, Olah E, Ong KR, Oosterwijk JC, Ottini L, Parsons MT, Peterlongo P, Pfeiler G, Pradhan N, Radice P, Ramus SJ, Rantala J, Rennert G, Robson M, Rodriguez GC, Salani R, Scheuner MT, Schmutzler RK, Shah PD, Side LE, Simard J, Singer CF, Steinemann D, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Terry MB, Thomassen M, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Venat-Bouvet L, Vierstraete J, Wagner G, Walker L, Weitzel JN, Yannoukakos D, Antoniou A, Goldgar D, Olopade O, Chenevix-Trench G, Rebbeck T, Huo D. Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. British Journal Of Cancer 2019, 121: 180-192. PMID: 31213659, PMCID: PMC6738050, DOI: 10.1038/s41416-019-0492-8.Peer-Reviewed Original ResearchConceptsBody mass indexOvarian cancer riskBRCA1/2 mutation carriersBRCA2 mutation carriersCancer riskMutation carriersMass indexGeneral populationHigher ovarian cancer riskHigher body mass indexGenetic scoreOvarian cancer casesMendelian randomisation studyMendelian randomisation approachConsortium of InvestigatorsPostmenopausal womenPremenopausal womenMenopausal statusCancer casesCox modelConclusionOur observationsRandomisation approachM2 increaseRiskPositive associationNo 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
Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study
Dixon-Suen SC, Nagle CM, Thrift AP, Pharoah PDP, Ewing A, Pearce CL, Zheng W, Australian Ovarian Cancer Study Group, Chenevix-Trench G, Fasching PA, Beckmann MW, Lambrechts D, Vergote I, Lambrechts S, Van Nieuwenhuysen E, Rossing MA, Doherty JA, Wicklund KG, Chang-Claude J, Jung AY, Moysich KB, Odunsi K, Goodman MT, Wilkens LR, Thompson PJ, Shvetsov YB, Dörk T, Park-Simon TW, Hillemanns P, Bogdanova N, Butzow R, Nevanlinna H, Pelttari LM, Leminen A, Modugno F, Ness RB, Edwards RP, Kelley JL, Heitz F, du Bois A, Harter P, Schwaab I, Karlan BY, Lester J, Orsulic S, Rimel BJ, Kjær SK, Høgdall E, Jensen A, Goode EL, Fridley BL, Cunningham JM, Winham SJ, Giles GG, Bruinsma F, Milne RL, Southey MC, Hildebrandt MAT, Wu X, Lu KH, Liang D, Levine DA, Bisogna M, Schildkraut JM, Berchuck A, Cramer DW, Terry KL, Bandera EV, Olson SH, Salvesen HB, Thomsen LCV, Kopperud RK, Bjorge L, Kiemeney LA, Massuger LFAG, Pejovic T, Bruegl A, Cook LS, Le ND, Swenerton KD, Brooks-Wilson A, Kelemen LE, Lubiński J, Huzarski T, Gronwald J, Menkiszak J, Wentzensen N, Brinton L, Yang H, Lissowska J, Høgdall CK, Lundvall L, Song H, Tyrer JP, Campbell I, Eccles D, Paul J, Glasspool R, Siddiqui N, Whittemore AS, Sieh W, McGuire V, Rothstein JH, Narod SA, Phelan C, Risch HA, McLaughlin JR, Anton-Culver H, Ziogas A, Menon U, Gayther SA, Ramus SJ, Gentry-Maharaj A, Wu AH, Pike MC, Tseng CC, Kupryjanczyk J, Dansonka-Mieszkowska A, Budzilowska A, Rzepecka IK, Webb PM, on behalf of the Ovarian Cancer Association Consortium. Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study. British Journal Of Cancer 2018, 118: 1123-1129. PMID: 29555990, PMCID: PMC5931085, DOI: 10.1038/s41416-018-0011-3.Peer-Reviewed Original ResearchConceptsOvarian cancer riskMendelian randomisationOdds ratioOvarian cancerCancer riskStudy-specific odds ratiosConfidence intervalsMendelian randomisation studyBackgroundObservational studiesOvarian carcinogenesisRisk scoreAdult heightConsortium studySingle nucleotide polymorphismsRiskCancerGenetic propensity
2017
Impact of Sixteen Established Pancreatic Cancer Susceptibility Loci in American Jews
Streicher SA, Klein AP, Olson SH, Amundadottir LT, DeWan AT, Zhao H, Risch HA. Impact of Sixteen Established Pancreatic Cancer Susceptibility Loci in American Jews. Cancer Epidemiology Biomarkers & Prevention 2017, 26: 1540-1548. PMID: 28754795, PMCID: PMC5626623, DOI: 10.1158/1055-9965.epi-17-0262.Peer-Reviewed Original ResearchConceptsWhite European subjectsCancer susceptibility lociHigh riskEuropean subjectsAshkenazi JewsPancreatic Cancer Case-Control ConsortiumPancreatic cancer cohortPancreatic cancer patientsUnconditional logistic regressionSusceptibility lociCancer patientsPancreatic cancerCancer cohortGenetic Epidemiology ResearchLogistic regressionAdult HealthEpidemiology researchCase-control sampleRiskORsSubjectsIndividual ORsMinor allele frequency
2016
Menstrual and Reproductive Factors, Hormone Use, and Risk of Pancreatic Cancer
Lujan-Barroso L, Zhang W, Olson SH, Gao YT, Yu H, Baghurst PA, Bracci PM, Bueno-de-Mesquita H, Foretová L, Gallinger S, Holcatova I, Janout V, Ji BT, Kurtz RC, La Vecchia C, Lagiou P, Li D, Miller AB, Serraino D, Zatonski W, Risch HA, Duell EJ. Menstrual and Reproductive Factors, Hormone Use, and Risk of Pancreatic Cancer. Pancreas 2016, 45: 1401-1410. PMID: 27088489, PMCID: PMC5065728, DOI: 10.1097/mpa.0000000000000635.Peer-Reviewed Original ResearchConceptsHormone replacement therapyPancreatic cancerHRT useOdds ratioReproductive factorsInternational Pancreatic Cancer Case-Control ConsortiumRisk of PCLarge pooled analysisPancreatic Cancer Case-Control ConsortiumConfidence intervalsCase-control studySignificant inverse associationLogistic regression modelsPostmenopausal womenHormone useControl womenReplacement therapyPooled analysisInverse associationHysterectomyPooled estimatesRelevant covariatesExogenous hormonesWomenRiskTelomere 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 chromosomeChronic Recreational Physical Inactivity and Epithelial Ovarian Cancer Risk
Cannioto R, LaMonte M, Risch H, Hong C, Sucheston-Campbell L, Eng K, Szender J, Chang-Claude J, Schmalfeldt B, Klapdor R, Gower E, Minlikeeva A, Zirpoli G, Bandera E, Berchuck A, Cramer D, Doherty J, Edwards R, Fridley B, Goode E, Goodman M, Hogdall E, Hosono S, Jensen A, Jordan S, Kjaer S, Matsuo K, Ness R, Olsen C, Olson S, Pearce C, Pike M, Rossing M, Szamreta E, Thompson P, Tseng C, Vierkant R, Webb P, Wentzensen N, Wicklund K, Winham S, Wu A, Modugno F, Schildkraut J, Terry K, Kelemen L, Moysich K. Chronic Recreational Physical Inactivity and Epithelial Ovarian Cancer Risk. Obstetrical & Gynecological Survey 2016, 71: 528-530. DOI: 10.1097/ogx.0000000000000357.Peer-Reviewed Original ResearchAssociation Between Menopausal Estrogen-Only Therapy and Ovarian Carcinoma Risk
Lee A, Ness R, Roman L, Terry K, Schildkraut J, Chang-Claude J, Doherty J, Menon U, Cramer D, Gayther S, Risch H, Gentry-Maharaj A, Goodman M, Modugno F, Eilber U, Moysich K, Berchuck A, Rossing M, Jensen A, Wicklund K, Cushing-Haugen K, Hogdall E, Rudolph A, Thompson P, Wilkens L, Kjaer S, Carney M, Stram D, Ramus S, Wu A, Pike M, Pearce C. Association Between Menopausal Estrogen-Only Therapy and Ovarian Carcinoma Risk. Obstetrical & Gynecological Survey 2016, 71: 470-471. DOI: 10.1097/01.ogx.0000489579.62561.b8.Peer-Reviewed Original ResearchMeta-dimensional data integration identifies critical pathways for susceptibility, tumorigenesis and progression of endometrial cancer
Wei R, De Vivo I, Huang S, Zhu X, Risch H, Moore JH, Yu H, Garmire LX. Meta-dimensional data integration identifies critical pathways for susceptibility, tumorigenesis and progression of endometrial cancer. Oncotarget 2016, 7: 55249-55263. PMID: 27409342, PMCID: PMC5342415, DOI: 10.18632/oncotarget.10509.Peer-Reviewed Original ResearchConceptsEndometrial cancerEC riskSusceptible pathwaysCancer Genome Atlas (TCGA) samplesProgression of ECEndometrial Cancer StudyCommon female cancerGenome-wide association studiesEC cohortFemale cancersCell cycle pathwayCancerP53 signalingCommon pathwayGenetic polymorphismsCancer studiesSurvival dataProgressionCritical pathwaysGenetic information processing pathwaysMulti-omics analysisTumorigenesisCycle pathwayMetabolism pathwaysRiskAssociation of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study
Childs EJ, Chaffee KG, Gallinger S, Syngal S, Schwartz AG, Cote ML, Bondy ML, Hruban RH, Chanock SJ, Hoover RN, Fuchs CS, Rider DN, Amundadottir LT, Stolzenberg-Solomon R, Wolpin BM, Risch HA, Goggins MG, Petersen GM, Klein AP. Association of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study. Cancer Epidemiology Biomarkers & Prevention 2016, 25: 1185-1191. PMID: 27197284, PMCID: PMC5321211, DOI: 10.1158/1055-9965.epi-15-1217.Peer-Reviewed Original ResearchConceptsHigh-risk populationPancreatic cancerEarly onset pancreatic cancerPancreatic cancer familiesHigh-risk patientsMagnitude of associationHigh-penetrance genesGenetic variantsPancreatic cancer susceptibilityUnselected patientsFamily historyProstate cancerColon cancerCommon genetic variantsCancerCancer familiesLogistic regressionCancer susceptibilityCancer susceptibility lociPatientsCancer lociOvarianCommon variantsBreastRiskRisk 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
Pleiotropic Analysis of Cancer Risk Loci on Esophageal Adenocarcinoma Risk
Lee E, Stram DO, Ek WE, Onstad LE, MacGregor S, Gharahkhani P, Ye W, Lagergren J, Shaheen NJ, Murray LJ, Hardie LJ, Gammon MD, Chow WH, Risch HA, Corley DA, Levine DM, Whiteman DC, Bernstein L, Bird NC, Vaughan TL, Wu AH. Pleiotropic Analysis of Cancer Risk Loci on Esophageal Adenocarcinoma Risk. Cancer Epidemiology Biomarkers & Prevention 2015, 24: 1801-1803. PMID: 26364162, PMCID: PMC4648999, DOI: 10.1158/1055-9965.epi-15-0596.Peer-Reviewed Original ResearchConceptsRisk of EACBody mass indexBarrett's esophagusEsophageal adenocarcinomaCommon cancerEffect modificationEsophageal adenocarcinoma riskMultiple cancer sitesRisk variantsGenome-wide association studiesGenetic susceptibility studiesCase patientsAdenocarcinoma riskMass indexCancer sitesGenetic risk variantsEsophagusPleiotropic genetic associationsControl participantsCancerHeartburnRiskMultiple testingGenetic associationCancer risk lociJoint Effect of Genotypic and Phenotypic Features of Reproductive Factors on Endometrial Cancer Risk
Wang Z, Risch H, Lu L, Irwin ML, Mayne S, Schwartz P, Rutherford T, De Vivo I, Yu H. Joint Effect of Genotypic and Phenotypic Features of Reproductive Factors on Endometrial Cancer Risk. Scientific Reports 2015, 5: 15582. PMID: 26498156, PMCID: PMC4620445, DOI: 10.1038/srep15582.Peer-Reviewed Original ResearchConceptsEndometrial cancer riskEndometrial cancerCancer riskEstrogen exposureEndometrial cancer patientsTime of studyGenetic risk scorePotential confoundersCancer patientsMenstrual cycleReproductive factorsRisk scorePossible markerMajor causeCancerMenopauseObesityPhenotypic featuresRiskPopulation controlsAgeMenarcheWomenExposureTNMCEvidence 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 ResearchPolymorphisms in genes in the androgen pathway and risk of Barrett's esophagus and esophageal adenocarcinoma
Ek WE, Lagergren K, Cook M, Wu AH, Abnet CC, Levine D, Chow W, Bernstein L, Risch HA, Shaheen NJ, Bird NC, Corley DA, Hardie LJ, Fitzgerald RC, Gammon MD, Romero Y, Liu G, Ye W, Vaughan TL, MacGregor S, Whiteman DC, Westberg L, Lagergren J. Polymorphisms in genes in the androgen pathway and risk of Barrett's esophagus and esophageal adenocarcinoma. International Journal Of Cancer 2015, 138: 1146-1152. PMID: 26414697, PMCID: PMC4715576, DOI: 10.1002/ijc.29863.Peer-Reviewed Original ResearchConceptsRisk of BEBarrett's esophagusEsophageal adenocarcinomaSingle nucleotide polymorphismsAndrogen pathwayRisk of EACStrong male predominanceBody mass indexMale predominanceTobacco smokingTobacco smokersBE patientsHip ratioEAC patientsSex hormonesReflux statusLarger sample sizeEsophagusInfluence riskGenetic epidemiological analysisPatientsControl participantsAdenocarcinomaRiskGenetic variantsTERT gene harbors multiple variants associated with pancreatic cancer susceptibility
Campa D, Rizzato C, Stolzenberg-Solomon R, Pacetti P, Vodicka P, Cleary SP, Capurso G, Bueno-de-Mesquita HB, Werner J, Gazouli M, Butterbach K, Ivanauskas A, Giese N, Petersen GM, Fogar P, Wang Z, Bassi C, Ryska M, Theodoropoulos GE, Kooperberg C, Li D, Greenhalf W, Pasquali C, Hackert T, Fuchs CS, Mohelnikova-Duchonova B, Sperti C, Funel N, Dieffenbach AK, Wareham NJ, Buring J, Holcátová I, Costello E, Zambon CF, Kupcinskas J, Risch HA, Kraft P, Bracci PM, Pezzilli R, Olson SH, Sesso HD, Hartge P, Strobel O, Małecka-Panas E, Visvanathan K, Arslan AA, Pedrazzoli S, Souček P, Gioffreda D, Key TJ, Talar-Wojnarowska R, Scarpa A, Mambrini A, Jacobs EJ, Jamroziak K, Klein A, Tavano F, Bambi F, Landi S, Austin MA, Vodickova L, Brenner H, Chanock SJ, Delle Fave G, Piepoli A, Cantore M, Zheng W, Wolpin BM, Amundadottir LT, Canzian F. TERT gene harbors multiple variants associated with pancreatic cancer susceptibility. International Journal Of Cancer 2015, 137: 2175-2183. PMID: 25940397, PMCID: PMC4548797, DOI: 10.1002/ijc.29590.Peer-Reviewed Original ResearchConceptsPancreatic cancer riskCancer riskTelomerase reverse transcriptasePancreatic cancerSingle nucleotide polymorphismsAdditional single nucleotide polymorphismsTelomerase RNA component genePancreatic cancer susceptibilitySignificant associationCommon susceptibility lociCancer susceptibilityStatistical significanceRs401681RiskReverse transcriptaseTERT locusCancerDisease researchMultiple testingNucleotide polymorphismsLinkage disequilibriumIndependent variantsSusceptibility lociDetectable 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 dataSymptomatologyRiskNo clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
Ovarian Cancer Association Consortium B, Hollestelle A, van der Baan FH, Berchuck A, Johnatty SE, Aben KK, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Anton-Culver H, Antonenkova NN, Antoniou AC, Apicella C, Arndt V, Arnold N, Arun BK, Arver B, Ashworth A, Group A, Baglietto L, Balleine R, Bandera EV, Barrowdale D, Bean YT, Beckmann L, Beckmann MW, Benitez J, Berger A, Berger R, Beuselinck B, Bisogna M, Bjorge L, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Brand JS, Brauch H, Register B, Brenner H, Brinton L, Brooks-Wilson A, Bruinsma F, Brunet J, Brüning T, Budzilowska A, Bunker CH, Burwinkel B, Butzow R, Buys SS, Caligo MA, Campbell I, Carter J, Chang-Claude J, Chanock SJ, Claes KBM, Collée JM, Cook LS, Couch FJ, Cox A, Cramer D, Cross SS, Cunningham JM, Cybulski C, Czene K, Damiola F, Dansonka-Mieszkowska A, Darabi H, de la Hoya M, deFazio A, Dennis J, Devilee P, Dicks EM, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dos Santos Silva I, du Bois A, Dumont M, Dunning AM, Duran M, Easton DF, Eccles D, Edwards RP, Ehrencrona H, Ejlertsen B, Ekici AB, Ellis SD, EMBRACE, Engel C, Eriksson M, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Fontaine A, Fortuzzi S, Fostira F, Fridley BL, Friebel T, Friedman E, Friel G, Frost D, Garber J, García-Closas M, Gayther SA, Collaborators G, Network G, Gentry-Maharaj A, Gerdes AM, Giles GG, Glasspool R, Glendon G, Godwin AK, Goodman MT, Gore M, Greene MH, Grip M, Gronwald J, Kaulich D, Guénel P, Guzman SR, Haeberle L, Haiman CA, Hall P, Halverson SL, Hamann U, Hansen TVO, Harter P, Hartikainen JM, Healey S, HEBON, Hein A, Heitz F, Henderson BE, Herzog J, Hildebrandt M, Høgdall CK, Høgdall E, Hogervorst FBL, Hopper JL, Humphreys K, Huzarski T, Imyanitov EN, Isaacs C, Jakubowska A, Janavicius R, Jaworska K, Jensen A, Jensen UB, Johnson N, Jukkola-Vuorinen A, Kabisch M, Karlan BY, Kataja V, Kauff N, Investigators K, Kelemen LE, Kerin MJ, Kiemeney LA, Kjaer SK, Knight JA, Knol-Bout JP, Konstantopoulou I, Kosma VM, Krakstad C, Kristensen V, Kuchenbaecker KB, Kupryjanczyk J, Laitman Y, Lambrechts D, Lambrechts S, Larson MC, Lasa A, Laurent-Puig P, Lazaro C, Le ND, Le Marchand L, Leminen A, Lester J, Levine DA, Li J, Liang D, Lindblom A, Lindor N, Lissowska J, Long J, Lu KH, Lubinski J, Lundvall L, Lurie G, L. P, Mannermaa A, Margolin S, Mariette F, Marme F, Martens JWM, Massuger LFAG, Maugard C, Mazoyer S, McGuffog L, McGuire V, McLean C, McNeish I, Meindl A, Menegaux F, Menéndez P, Menkiszak J, Menon U, Mensenkamp AR, Miller N, Milne RL, Modugno F, Montagna M, Moysich KB, Müller H, Mulligan AM, Muranen TA, Narod SA, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Neven P, Nielsen FC, Nielsen SF, Nordestgaard BG, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olson SH, Oosterwijk JC, Orlow I, Orr N, Orsulic S, Osorio A, Ottini L, Paul J, Pearce CL, Pedersen IS, Peissel B, Pejovic T, Pelttari LM, Perkins J, Permuth-Wey J, Peterlongo P, Peto J, Phelan CM, Phillips KA, Piedmonte M, Pike MC, Platte R, Plisiecka-Halasa J, Poole EM, Poppe B, Pylkäs K, Radice P, Ramus SJ, Rebbeck TR, Reed MWR, Rennert G, Risch HA, Robson M, Rodriguez GC, Romero A, Rossing MA, Rothstein JH, Rudolph A, Runnebaum I, Salani R, Salvesen HB, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schrauder MG, Schumacher F, Schwaab I, Scuvera G, Sellers TA, Severi G, Seynaeve CM, Shah M, Shrubsole M, Siddiqui N, Sieh W, Simard J, Singer CF, Sinilnikova OM, Smeets D, Sohn C, Soller M, Song H, Soucy P, Southey MC, Stegmaier C, Stoppa-Lyonnet D, Sucheston L, SWE-BRCA, Swerdlow A, Tangen IL, Tea MK, Teixeira MR, Terry KL, Terry MB, Thomassen M, Thompson PJ, Tihomirova L, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Torres D, Truong T, Tsimiklis H, Tung N, Tworoger SS, Tyrer JP, Vachon CM, Van 't Veer LJ, van Altena AM, Van Asperen CJ, van den Berg D, van den Ouweland AMW, van Doorn HC, Van Nieuwenhuysen E, van Rensburg EJ, Vergote I, Verhoef S, Vierkant RA, Vijai J, Vitonis AF, von Wachenfeldt A, Walsh C, Wang Q, Wang-Gohrke S, Wappenschmidt B, Weischer M, Weitzel JN, Weltens C, Wentzensen N, Whittemore AS, Wilkens LR, Winqvist R, Wu AH, Wu X, Yang HP, Zaffaroni D, Zamora M, Zheng W, Ziogas A, Chenevix-Trench G, Pharoah PDP, Rookus MA, Hooning MJ, Goode EL. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. Gynecologic Oncology 2015, 141: 386-401. PMID: 25940428, PMCID: PMC4630206, DOI: 10.1016/j.ygyno.2015.04.034.Peer-Reviewed Original ResearchConceptsBreast cancer riskBreast cancerClinical outcomesOvarian cancerCancer riskClinical utilityBreast Cancer Association ConsortiumOvarian Cancer Association ConsortiumClinical genetic testingOverall survivalMutation carriersSurvival timeSuggested associationsCancerGenetic testingParticular subgroupRs61764370RiskAssociationOutcomesPrior studiesPatientsWomen