2017
Quantifying the Genetic Correlation between Multiple Cancer Types
Lindström S, GECCO and the GAME-ON Network: CORECT D, Finucane H, Bulik-Sullivan B, Schumacher F, Amos C, Hung R, Rand K, Gruber S, Conti D, Permuth J, Lin H, Goode E, Sellers T, Amundadottir L, Stolzenberg-Solomon R, Klein A, Petersen G, Risch H, Wolpin B, Hsu L, Huyghe J, Chang-Claude J, Chan A, Berndt S, Eeles R, Easton D, Haiman C, Hunter D, Neale B, Price A, Kraft P. Quantifying the Genetic Correlation between Multiple Cancer Types. Cancer Epidemiology Biomarkers & Prevention 2017, 26: 1427-1435. PMID: 28637796, PMCID: PMC5582139, DOI: 10.1158/1055-9965.epi-17-0211.Peer-Reviewed Original ResearchMeSH KeywordsFemaleGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansMaleNeoplasmsRisk FactorsConceptsColorectal cancerLung cancerRisk factorsBreast cancerRare high-penetrance mutationsCancer typesBody mass indexSpecific genetic risk factorsGenetic risk factorsHigh-penetrance mutationsMass indexControl subjectsOvarian cancerObservational studyProstate cancerNoncancer diseasesGenome-wide association studiesCancerDistinct cancersPrevious observational studiesAssociation studiesColorectalLungSummary statistics dataModest genetic correlation
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 chromosomeConstrained Score Statistics Identify Genetic Variants Interacting with Multiple Risk Factors in Barrett’s Esophagus
Dai JY, de Dieu Tapsoba J, Buas MF, Consortium T, Chow W, Shaheen N, Anderson L, Corley D, Gammon M, Hardie L, Lagergren J, Whiteman D, Risch H, Vaughan T. Constrained Score Statistics Identify Genetic Variants Interacting with Multiple Risk Factors in Barrett’s Esophagus. American Journal Of Human Genetics 2016, 99: 352-365. PMID: 27486777, PMCID: PMC4974090, DOI: 10.1016/j.ajhg.2016.06.018.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAge FactorsBarrett EsophagusEsophageal NeoplasmsFemaleGastroesophageal RefluxGene-Environment InteractionGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansMaleModels, GeneticObesityOdds RatioPolymorphism, Single NucleotideReproducibility of ResultsRisk FactorsSample SizeSex FactorsSmokingConceptsBarrett's esophagusEsophageal adenocarcinomaGene-environment interactionsMultiple risk factorsEsophageal Adenocarcinoma ConsortiumEnvironmental exposure dataGenetic variantsGastresophageal refluxTobacco smokingRisk factorsCancer epidemiologyEsophagusExposure dataAdenocarcinomaMultivariate gene-environment interactionsLow statistical powerTesting strategiesGenome-wide significanceSmokingObesityStatistical powerEpidemiologyRefluxInherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration
Permuth JB, Reid B, Earp M, Chen YA, Monteiro AN, Chen Z, Group A, Chenevix-Trench G, Fasching PA, Beckmann MW, Lambrechts D, Vanderstichele A, Van Niewenhuyse E, Vergote I, Rossing MA, Doherty JA, Chang-Claude J, Moysich K, Odunsi K, Goodman MT, Shvetsov YB, Wilkens LR, Thompson PJ, Dörk T, Bogdanova N, Butzow R, Nevanlinna H, Pelttari L, Leminen A, Modugno F, Edwards RP, Ness RB, Kelley J, Heitz F, Karlan B, Lester J, Kjaer SK, Jensen A, Giles G, Hildebrandt M, Liang D, Lu KH, Wu X, Levine DA, Bisogna M, Berchuck A, Cramer DW, Terry KL, Tworoger SS, Poole EM, Bandera EV, Fridley B, Cunningham J, Winham SJ, Olson SH, Orlow I, Bjorge L, Kiemeney LA, Massuger L, Pejovic T, Moffitt M, Le N, Cook LS, Brooks-Wilson A, Kelemen LE, Gronwald J, Lubinski J, Wentzensen N, Brinton LA, Lissowska J, Yang H, Hogdall E, Hogdall C, Lundvall L, Pharoah PD, Song H, Campbell I, Eccles D, McNeish I, Whittemore A, McGuire V, Sieh W, Rothstein J, Phelan CM, Risch H, Narod S, McLaughlin J, Anton-Culver H, Ziogas A, Menon U, Gayther S, Ramus SJ, Gentry-Maharaj A, Pearce CL, Wu AH, Kupryjanczyk J, Dansonka-Mieszkowska A, Schildkraut JM, Cheng JQ, Goode EL, Sellers TA. Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration. Oncotarget 2016, 5: 72381-72394. PMID: 27911851, PMCID: PMC5340123, DOI: 10.18632/oncotarget.10546.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsDisease SusceptibilityFemaleGenetic VariationHumansMiddle AgedOvarian NeoplasmsPolymorphism, Single NucleotideRNA EditingConceptsSingle nucleotide polymorphismsGene-level analysisRNA editingEOC susceptibilityADAR expressionExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisPost-transcriptional modificationsSequence kernel association testAdmixture maximum likelihood testInvasive EOC casesADAR genesRNA familiesLocus analysisUntranslated regionGene expressionAssociation analysisOvarian cancer susceptibilityADARGermline variationNucleotide polymorphismsTissue gene expressionMaximum likelihood testADAR3European ancestryAssociation 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 variantsBreastRisk
2015
Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk
Chornokur G, Lin HY, Tyrer JP, Lawrenson K, Dennis J, Amankwah EK, Qu X, Tsai YY, Jim HS, Chen Z, Chen AY, Permuth-Wey J, Aben K, 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, 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 YT, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harrington P, Harter P, Hein A, Heitz F, Hildebrandt MA, Hillemanns P, Hogdall CK, Hogdall E, Hosono S, Jakubowska A, Jensen A, Ji BT, Karlan BY, Kelemen LE, 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, 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 XO, Shvetsov YB, Siddiqui N, Sieh W, Song H, Southey MC, Spiewankiewicz B, Sucheston L, Teo SH, Terry KL, Thompson PJ, Thomsen L, Tangen IL, Tworoger SS, van Altena AM, Vierkant RA, Vergote I, Walsh CS, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wicklund KG, Wilkens LR, Wu AH, Wu X, Woo YL, Yang H, Zheng W, Ziogas A, Hasmad HN, Berchuck A, , Iversen E, Schildkraut J, Ramus S, Goode E, Monteiro A, Gayther S, Narod S, Pharoah P, Sellers T, Phelan C. Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk. PLOS ONE 2015, 10: e0128106. PMID: 26091520, PMCID: PMC4474865, DOI: 10.1371/journal.pone.0128106.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAsianBiological TransportBlack or African AmericanCarcinoma, Ovarian EpithelialCarrier ProteinsCase-Control StudiesFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationHumansNeoplasms, Glandular and EpithelialOdds RatioOvarian NeoplasmsPolymorphism, Single NucleotideRiskConceptsCollaborative Oncological Gene-environment StudyTransport genesDNA damageCellular transport processesHallmarks of cancerCommon genetic variationGenetic variationGenome ProjectReactive oxygen speciesCancer genesAberrant accumulationOvarian Cancer Association ConsortiumGenesSNP analysisUncontrolled proliferationSNPsAberrant expressionOxygen speciesDNA samplesSmall moleculesGene variantsSLC39A11Gene-environment studiesWhite European subjectsEpithelial ovarian cancer
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
2011
Genetic Effects and Modifiers of Radiotherapy and Chemotherapy on Survival in Pancreatic Cancer
Zeng H, Yu H, Lu L, Jain D, Kidd MS, Saif MW, Chanock SJ, Hartge P, Risch H. Genetic Effects and Modifiers of Radiotherapy and Chemotherapy on Survival in Pancreatic Cancer. Pancreas 2011, 40: 657-663. PMID: 21487324, PMCID: PMC3116071, DOI: 10.1097/mpa.0b013e31821268d1.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overATP Binding Cassette Transporter, Subfamily G, Member 2ATP-Binding Cassette TransportersCase-Control StudiesConnecticutDihydrouracil Dehydrogenase (NADP)FemaleGenetic MarkersGenetic VariationGenome-Wide Association StudyHumansMaleMiddle AgedNeoplasm ProteinsPancreatic NeoplasmsPolymorphism, Single NucleotidePrognosisProportional Hazards ModelsSerpinsSurvival AnalysisTreatment OutcomeConceptsPancreatic cancerOverall survivalCancer survivalProportional hazards regression modelsSurvival of patientsPopulation-based studyPancreatic cancer survivalHazards regression modelsGerm-line genetic variationEvidence of associationClinical outcomesCancer patientsTreatment outcomesTreatment responseSignificant associationPatientsCancerPrevious genome-wide association study dataRadiotherapyPutative markerGenetic polymorphismsSurvivalDPYD geneChemotherapyEvidence of interaction
2010
A KRAS-Variant in Ovarian Cancer Acts as a Genetic Marker of Cancer Risk
Ratner E, Lu L, Boeke M, Barnett R, Nallur S, Chin LJ, Pelletier C, Blitzblau R, Tassi R, Paranjape T, Hui P, Godwin AK, Yu H, Risch H, Rutherford T, Schwartz P, Santin A, Matloff E, Zelterman D, Slack FJ, Weidhaas JB. A KRAS-Variant in Ovarian Cancer Acts as a Genetic Marker of Cancer Risk. Cancer Research 2010, 70: 6509-6515. PMID: 20647319, PMCID: PMC2923587, DOI: 10.1158/0008-5472.can-10-0689.Peer-Reviewed Original ResearchConceptsOvarian cancerKRAS-variantOC patientsCancer riskRisk of OCIndependent case-control analysesCase-control studyOvarian cancer syndromeCase-control analysisFamily membersAdvanced diseaseWomen's cancersRisk factorsBRCA2 mutationsHBOC patientsOC casesIndependent cohortHBOC familiesHereditary breastSolid tumorsCancer syndromesKRAS oncogeneVariant allelesPatientsCancer
2009
Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer
Amundadottir L, Kraft P, Stolzenberg-Solomon RZ, Fuchs CS, Petersen GM, Arslan AA, Bueno-de-Mesquita HB, Gross M, Helzlsouer K, Jacobs EJ, LaCroix A, Zheng W, Albanes D, Bamlet W, Berg CD, Berrino F, Bingham S, Buring JE, Bracci PM, Canzian F, Clavel-Chapelon F, Clipp S, Cotterchio M, de Andrade M, Duell EJ, Fox Jr J, Gallinger S, Gaziano JM, Giovannucci EL, Goggins M, González CA, Hallmans G, Hankinson SE, Hassan M, Holly EA, Hunter DJ, Hutchinson A, Jackson R, Jacobs KB, Jenab M, Kaaks R, Klein AP, Kooperberg C, Kurtz RC, Li D, Lynch SM, Mandelson M, McWilliams RR, Mendelsohn JB, Michaud DS, Olson SH, Overvad K, Patel AV, Peeters PH, Rajkovic A, Riboli E, Risch HA, Shu XO, Thomas G, Tobias GS, Trichopoulos D, Van Den Eeden SK, Virtamo J, Wactawski-Wende J, Wolpin BM, Yu H, Yu K, Zeleniuch-Jacquotte A, Chanock SJ, Hartge P, Hoover RN. Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer. Nature Genetics 2009, 41: 986-990. PMID: 19648918, PMCID: PMC2839871, DOI: 10.1038/ng.429.Peer-Reviewed Original ResearchMeSH KeywordsABO Blood-Group SystemAllelesCase-Control StudiesChromosomes, Human, Pair 9Cohort StudiesFemaleGene FrequencyGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyGenotypeHaplotypesHumansIntronsLinkage DisequilibriumLogistic ModelsMaleOdds RatioPancreatic NeoplasmsPolymorphism, Single NucleotideProspective StudiesRisk FactorsUnited States
1999
Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations
Wang-Gohrke S, Weikel W, Risch H, Vesprini D, Abrahamson J, Lerman C, Godwin A, Moslehi R, Olipade O, Brunet J, Stickeler E, Kieback D, Kreienberg R, Weber B, Narod S, Runnebaum I. Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations. British Journal Of Cancer 1999, 81: 179-183. PMID: 10487631, PMCID: PMC2374363, DOI: 10.1038/sj.bjc.6690669.Peer-Reviewed Original ResearchConceptsOvarian cancer patientsBRCA2 germline mutationsCancer patientsOvarian cancerP53 geneGermline mutationsCarriers of BRCA1Breast-ovarian cancer familiesRisk-modifying effectBRCA2 mutation carriersBp duplication polymorphismUnaffected female carriersRestriction fragment length polymorphismDeleterious BRCA1Healthy controlsBRCA2 mutationsMutation carriersCancer familiesPatientsFemale carriersGermline DNACancerIntronic polymorphismDuplication polymorphismMspI restriction fragment length polymorphism