2023
Relationship between ABO Blood Group Alleles and Pancreatic Cancer Is Modulated by Secretor (FUT2) Genotype, but Not Lewis Antigen (FUT3) Genotype.
Kim J, Yuan C, Amundadottir L, Wolpin B, Klein A, Risch H, Kraft P. Relationship between ABO Blood Group Alleles and Pancreatic Cancer Is Modulated by Secretor (FUT2) Genotype, but Not Lewis Antigen (FUT3) Genotype. Cancer Epidemiology Biomarkers & Prevention 2023, 32: 1242-1248. PMID: 37342060, PMCID: PMC10527950, DOI: 10.1158/1055-9965.epi-23-0009.Peer-Reviewed Original ResearchConceptsNon-O blood typeABO blood groupSecretor statusBlood typeBlood groupNon-O blood groupMultivariable logistic regressionConfidence intervalsPancreatic cancer riskO blood typeABO blood typeABO blood group allelesPancreatic ductal adenocarcinoma (PDAC) riskAdenocarcinoma riskAntigen genotypesPancreatic cancerEffect modificationSecretor genotypesCancer riskPDAC riskCancer ConsortiumBlood group allelesLogistic regressionLewis antigensWestern populations
2018
Identification of nine new susceptibility loci for endometrial cancer
O’Mara T, Glubb DM, Amant F, Annibali D, Ashton K, Attia J, Auer PL, Beckmann MW, Black A, Bolla MK, Brauch H, Brenner H, Brinton L, Buchanan DD, Burwinkel B, Chang-Claude J, Chanock SJ, Chen C, Chen MM, Cheng THT, Clarke CL, Clendenning M, Cook LS, Couch FJ, Cox A, Crous-Bous M, Czene K, Day F, Dennis J, Depreeuw J, Doherty JA, Dörk T, Dowdy SC, Dürst M, Ekici AB, Fasching PA, Fridley BL, Friedenreich CM, Fritschi L, Fung J, García-Closas M, Gaudet MM, Giles GG, Goode EL, Gorman M, Haiman CA, Hall P, Hankison SE, Healey CS, Hein A, Hillemanns P, Hodgson S, Hoivik EA, Holliday EG, Hopper JL, Hunter DJ, Jones A, Krakstad C, Kristensen VN, Lambrechts D, Marchand LL, Liang X, Lindblom A, Lissowska J, Long J, Lu L, Magliocco AM, Martin L, McEvoy M, Meindl A, Michailidou K, Milne RL, Mints M, Montgomery GW, Nassir R, Olsson H, Orlow I, Otton G, Palles C, Perry JRB, Peto J, Pooler L, Prescott J, Proietto T, Rebbeck TR, Risch HA, Rogers PAW, Rübner M, Runnebaum I, Sacerdote C, Sarto GE, Schumacher F, Scott RJ, Setiawan VW, Shah M, Sheng X, Shu XO, Southey MC, Swerdlow AJ, Tham E, Trovik J, Turman C, Tyrer JP, Vachon C, VanDen Berg D, Vanderstichele A, Wang Z, Webb PM, Wentzensen N, Werner HMJ, Winham SJ, Wolk A, Xia L, Xiang YB, Yang HP, Yu H, Zheng W, Pharoah PDP, Dunning AM, Kraft P, De Vivo I, Tomlinson I, Easton DF, Spurdle AB, Thompson DJ. Identification of nine new susceptibility loci for endometrial cancer. Nature Communications 2018, 9: 3166. PMID: 30093612, PMCID: PMC6085317, DOI: 10.1038/s41467-018-05427-7.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesCandidate causal genesCausal genesNovel genome-wide significant lociRisk lociEndometrial cancer risk lociGenome-wide significant lociExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisSignal transduction proteinsCancer risk lociNew susceptibility lociTransduction proteinsSignificant lociLocus analysisNegative regulatorAssociation studiesFemale reproductive tractSusceptibility lociLoci associateLociGenesDecreased expressionReproductive tractRisk alleles
2017
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, Dennis J, Pirie A, Riggan MJ, Chornokur G, Earp MA, Lyra PC, Lee JM, Coetzee S, Beesley J, McGuffog L, Soucy P, Dicks E, Lee A, Barrowdale D, Lecarpentier J, Leslie G, Aalfs CM, Aben KKH, Adams M, Adlard J, Andrulis IL, Anton-Culver H, Antonenkova N, Aravantinos G, Arnold N, Arun B, Arver B, Azzollini J, Balmaña J, Banerjee S, Barjhoux L, Barkardottir R, Bean Y, Beckmann M, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini M, Birrer M, Bjorge L, Black A, Blankstein K, Blok M, Bodelon C, Bogdanova N, Bojesen A, Bonanni B, Borg Å, Bradbury A, Brenton J, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Bruinsma F, Brunet J, Buecher B, Butzow R, Buys S, Caldes T, Caligo M, Campbell I, Cannioto R, Carney M, Cescon T, Chan S, Chang-Claude J, Chanock S, Chen X, Chiew Y, Chiquette J, Chung W, Claes K, Conner T, Cook L, Cook J, Cramer D, Cunningham J, D'Aloisio A, Daly M, Damiola F, Damirovna S, Dansonka-Mieszkowska A, Dao F, Davidson R, DeFazio A, Delnatte C, Doheny K, Diez O, Ding Y, Doherty J, Domchek S, Dorfling C, Dörk T, Dossus L, Duran M, Dürst M, Dworniczak B, Eccles D, Edwards T, Eeles R, Eilber U, Ejlertsen B, Ekici A, Ellis S, Elvira M, Eng K, Engel C, Evans D, Fasching P, Ferguson S, Ferrer S, Flanagan J, Fogarty Z, Fortner R, Fostira F, Foulkes W, Fountzilas G, Fridley B, Friebel T, Friedman E, Frost D, Ganz P, Garber J, García M, Garcia-Barberan V, Gehrig A, Gentry-Maharaj A, Gerdes A, Giles G, Glasspool R, Glendon G, Godwin A, Goldgar D, Goranova T, Gore M, Greene M, Gronwald J, Gruber S, Hahnen E, Haiman C, Håkansson N, Hamann U, Hansen T, Harrington P, Harris H, Hauke J, Hein A, Henderson A, Hildebrandt M, Hillemanns P, Hodgson S, Høgdall C, Høgdall E, Hogervorst F, Holland H, Hooning M, Hosking K, Huang R, Hulick P, Hung J, Hunter D, Huntsman D, Huzarski T, Imyanitov E, Isaacs C, Iversen E, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jernetz M, Jensen A, Jensen U, John E, Johnatty S, Jones M, Kannisto P, Karlan B, Karnezis A, Kast K, Kennedy C, Khusnutdinova E, Kiemeney L, Kiiski J, Kim S, Kjaer S, Köbel M, Kopperud R, Kruse T, Kupryjanczyk J, Kwong A, Laitman Y, Lambrechts D, Larrañaga N, Larson M, Lazaro C, Le N, Le Marchand L, Lee J, Lele S, Leminen A, Leroux D, Lester J, Lesueur F, Levine D, Liang D, Liebrich C, Lilyquist J, Lipworth L, Lissowska J, Lu K, Lubinński J, Luccarini C, Lundvall L, Mai P, Mendoza-Fandiño G, Manoukian S, Massuger L, May T, Mazoyer S, McAlpine J, McGuire V, McLaughlin J, McNeish I, Meijers-Heijboer H, Meindl A, Menon U, Mensenkamp A, Merritt M, Milne R, Mitchell G, Modugno F, Moes-Sosnowska J, Moffitt M, Montagna M, Moysich K, Mulligan A, Musinsky J, Nathanson K, Nedergaard L, Ness R, Neuhausen S, Nevanlinna H, Niederacher D, Nussbaum R, Odunsi K, Olah E, Olopade O, Olsson H, Olswold C, O'Malley D, Ong K, Onland-Moret N, Orr N, Orsulic S, Osorio A, Palli D, Papi L, Park-Simon T, Paul J, Pearce C, Pedersen I, Peeters P, Peissel B, Peixoto A, Pejovic T, Pelttari L, Permuth J, Peterlongo P, Pezzani L, Pfeiler G, Phillips K, Piedmonte M, Pike M, Piskorz A, Poblete S, Pocza T, Poole E, Poppe B, Porteous M, Prieur F, Prokofyeva D, Pugh E, Pujana M, Pujol P, Radice P, Rantala J, Rappaport-Fuerhauser C, Rennert G, Rhiem K, Rice P, Richardson A, Robson M, Rodriguez G, Rodríguez-Antona C, Romm J, Rookus M, Rossing M, Rothstein J, Rudolph A, Runnebaum I, Salvesen H, Sandler D, Schoemaker M, Senter L, Setiawan V, Severi G, Sharma P, Shelford T, Siddiqui N, Side L, Sieh W, Singer C, Sobol H, Song H, Southey M, Spurdle A, Stadler Z, Steinemann D, Stoppa-Lyonnet D, Sucheston-Campbell L, Sukiennicki G, Sutphen R, Sutter C, Swerdlow A, Szabo C, Szafron L, Tan Y, Taylor J, Tea M, Teixeira M, Teo S, Terry K, Thompson P, Thomsen L, Thull D, Tihomirova L, Tinker A, Tischkowitz M, Tognazzo S, Toland A, Tone A, Trabert B, Travis R, Trichopoulou A, Tung N, Tworoger S, van Altena A, Van Den Berg D, van der Hout A, van der Luijt R, Van Heetvelde M, Van Nieuwenhuysen E, van Rensburg E, Vanderstichele A, Varon-Mateeva R, Vega A, Edwards D, Vergote I, Vierkant R, Vijai J, Vratimos A, Walker L, Walsh C, Wand D, Wang-Gohrke S, Wappenschmidt B, Webb P, Weinberg C, Weitzel J, Wentzensen N, Whittemore A, Wijnen J, Wilkens L, Wolk A, Woo M, Wu X, Wu A, Yang H, Yannoukakos D, Ziogas A, Zorn K, Narod S, Easton D, Amos C, Schildkraut J, Ramus S, Ottini L, Goodman M, Park S, Kelemen L, Risch H, Thomassen M, Offit K, Simard J, Schmutzler R, Hazelett D, Monteiro A, Couch F, Berchuck A, Chenevix-Trench G, Goode E, Sellers T, Gayther S, Antoniou A, Pharoah P. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nature Genetics 2017, 49: 680-691. PMID: 28346442, PMCID: PMC5612337, DOI: 10.1038/ng.3826.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBRCA1 ProteinBRCA2 ProteinCarcinoma, Ovarian EpithelialFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMeta-Analysis as TopicMutationNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideRisk FactorsTelomere-Binding ProteinsConceptsNew susceptibility lociSusceptibility lociGenome-wide association studiesLarge genome-wide association studiesCandidate susceptibility genesRegulatory featuresAssociation studiesSusceptibility genesLociIntegrated analysisEpithelial ovarian cancer histotypesGenesOvarian cancer histotypesOvarian cancerCancer histotypesOBFC1Different histotypesEpithelial ovarian cancerIdentification
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 chromosomeFunctional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus
Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, Beesley J, Ramus SJ, Li Q, Delgado MK, Lee JM, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Bandera EV, Barile M, Barkardottir RB, Barrowdale D, Beckmann MW, Benitez J, Berchuck A, Bisogna M, Bjorge L, Blomqvist C, Blot W, Bogdanova N, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Børresen-Dale AL, Brauch H, Brennan P, Brenner H, Bruinsma F, Brunet J, Buhari SA, Burwinkel B, Butzow R, Buys SS, Cai Q, Caldes T, Campbell I, Canniotto R, Chang-Claude J, Chiquette J, Choi JY, Claes KB, Cook L, Cox A, Cramer D, Cross S, Cybulski C, Czene K, Daly M, Damiola F, Dansonka-Mieszkowska A, Darabi H, Dennis J, Devilee P, Diez O, Doherty J, Domchek S, Dorfling C, Dörk T, Dumont M, Ehrencrona H, Ejlertsen B, Ellis S, Engel C, Lee E, Evans D, Fasching P, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foretova L, Fostira F, Foulkes W, Fridley B, Friedman E, Frost D, Gambino G, Ganz P, Garber J, García-Closas M, Gentry-Maharaj A, Ghoussaini M, Giles G, Glasspool R, Godwin A, Goldberg M, Goldgar D, González-Neira A, Goode E, Goodman M, Greene M, Gronwald J, Guénel P, Haiman C, Hall P, Hallberg E, Hamann U, Hansen T, Harrington P, Hartman M, Hassan N, Healey S, Heitz F, Herzog J, Høgdall E, Høgdall C, Hogervorst F, Hollestelle A, Hopper J, Hulick P, Huzarski T, Imyanitov E, Isaacs C, Ito H, Jakubowska A, Janavicius R, Jensen A, John E, Johnson N, Kabisch M, Kang D, Kapuscinski M, Karlan B, Khan S, Kiemeney L, Kjaer S, Knight J, Konstantopoulou I, Kosma V, Kristensen V, Kupryjanczyk J, Kwong A, de la Hoya M, Laitman Y, Lambrechts D, Le N, De Leeneer K, Lester J, Levine D, Li J, Lindblom A, Long J, Lophatananon A, Loud J, Lu K, Lubinski J, Mannermaa A, Manoukian S, Le Marchand L, Margolin S, Marme F, Massuger L, Matsuo K, Mazoyer S, McGuffog L, McLean C, McNeish I, Meindl A, Menon U, Mensenkamp A, Milne R, Montagna M, Moysich K, Muir K, Mulligan A, Nathanson K, Ness R, Neuhausen S, Nevanlinna H, Nord S, Nussbaum R, Odunsi K, Offit K, Olah E, Olopade O, Olson J, Olswold C, O’Malley D, Orlow I, Orr N, Osorio A, Park S, Pearce C, Pejovic T, Peterlongo P, Pfeiler G, Phelan C, Poole E, Pylkäs K, Radice P, Rantala J, Rashid M, Rennert G, Rhenius V, Rhiem K, Risch H, Rodriguez G, Rossing M, Rudolph A, Salvesen H, Sangrajrang S, Sawyer E, Schildkraut J, Schmidt M, Schmutzler R, Sellers T, Seynaeve C, Shah M, Shen C, Shu X, Sieh W, Singer C, Sinilnikova O, Slager S, Song H, Soucy P, Southey M, Stenmark-Askmalm M, Stoppa-Lyonnet D, Sutter C, Swerdlow A, Tchatchou S, Teixeira M, Teo S, Terry K, Terry M, Thomassen M, Tibiletti M, Tihomirova L, Tognazzo S, Toland A, Tomlinson I, Torres D, Truong T, Tseng C, Tung N, Tworoger S, Vachon C, van den Ouweland A, van Doorn H, van Rensburg E, Van't Veer L, Vanderstichele A, Vergote I, Vijai J, Wang Q, Wang-Gohrke S, Weitzel J, Wentzensen N, Whittemore A, Wildiers H, Winqvist R, Wu A, Yannoukakos D, Yoon S, Yu J, Zheng W, Zheng Y, Khanna K, Simard J, Monteiro A, French J, Couch F, Freedman M, Easton D, Dunning A, Pharoah P, Edwards S, Chenevix-Trench G, Antoniou A, Gayther S. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus. Nature Communications 2016, 7: 12675. PMID: 27601076, PMCID: PMC5023955, DOI: 10.1038/ncomms12675.Peer-Reviewed Original ResearchAdult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study
Dixon SC, Nagle CM, Thrift AP, Pharoah PD, Pearce CL, Zheng W, Painter JN, Study A, Chenevix-Trench G, Fasching P, Beckmann M, Lambrechts D, Vergote I, Lambrechts S, Van Nieuwenhuysen E, Rossing M, Doherty J, Wicklund K, Chang-Claude J, Rudolph A, Moysich K, Odunsi K, Goodman M, Wilkens L, Thompson P, Shvetsov Y, Dörk T, Park-Simon T, Hillemanns P, Bogdanova N, Butzow R, Nevanlinna H, Pelttari L, Leminen A, Modugno F, Ness R, Edwards R, Kelley J, Heitz F, Karlan B, Kjær S, Høgdall E, Jensen A, Goode E, Fridley B, Cunningham J, Winham S, Giles G, Bruinsma F, Milne R, Southey M, Hildebrandt M, Wu X, Lu K, Liang D, Levine D, Bisogna M, Schildkraut J, Berchuck A, Cramer D, Terry K, Bandera E, Olson S, Salvesen H, Thomsen L, Kopperud R, Bjorge L, Kiemeney L, Massuger L, Pejovic T, Cook L, Le N, Swenerton K, Brooks-Wilson A, Kelemen L, Lubiński J, Huzarski T, Gronwald J, Menkiszak J, Wentzensen N, Brinton L, Yang H, Lissowska J, Høgdall C, Lundvall L, Song H, Tyrer J, Campbell I, Eccles D, Paul J, Glasspool R, Siddiqui N, Whittemore A, Sieh W, McGuire V, Rothstein J, Narod S, Phelan C, Risch H, McLaughlin J, Anton-Culver H, Ziogas A, Menon U, Gayther S, Ramus S, Gentry-Maharaj A, Wu A, Pike M, Tseng C, Kupryjanczyk J, Dansonka-Mieszkowska A, Budzilowska A, Spiewankiewicz B, Webb P, Consortium O. Adult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study. International Journal Of Epidemiology 2016, 45: 884-895. PMID: 27401727, PMCID: PMC5644573, DOI: 10.1093/ije/dyw158.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overAllelesBody Mass IndexFemaleGenetic MarkersGenome-Wide Association StudyGenotypeHumansLogistic ModelsMendelian Randomization AnalysisMeta-Analysis as TopicMiddle AgedMultivariate AnalysisObesityOvarian NeoplasmsPolymorphism, Single NucleotideRisk FactorsYoung AdultConceptsBody mass indexOvarian cancerSerous cancerMass indexOdds ratioObservational studyMendelian randomizationStudy-specific odds ratiosHigher body mass indexAdult body mass indexGrade serous ovarian cancerConfidence intervalsOvarian cancer riskOvarian Cancer Association ConsortiumSerous ovarian cancerWeighted genetic risk scoreLack of associationMendelian randomization studyGenetic risk scoreStrength of associationHistological subtypesRisk factorsCancer riskRisk scoreHGSC subtype
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 cancerIdentification of six new susceptibility loci for invasive epithelial ovarian cancer
Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S, Godwin A, Schmutzler R, Meindl A, Engel C, Sutter C, Sinilnikova O, Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez G, Piedmonte M, O'Malley D, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée J, Rookus M, Oosterwijk J, Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov E, Caligo M, Campbell I, Hogervorst F, Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana M, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir R, Plante M, Simard J, Soucy P, Montagna M, Tognazzo S, Teixeira M, Pankratz V, Wang X, Lindor N, Szabo C, Kauff N, Vijai J, Aghajanian C, Pfeiler G, Berger A, Singer C, Tea M, Phelan C, Greene M, Mai P, Rennert G, Mulligan A, Tchatchou S, Andrulis I, Glendon G, Toland A, Jensen U, Kruse T, Thomassen M, Bojesen A, Zidan J, Friedman E, Laitman Y, Soller M, Liljegren A, Arver B, Einbeigi Z, Stenmark-Askmalm M, Olopade O, Nussbaum R, Rebbeck T, Nathanson K, Domchek S, Lu K, Karlan B, Walsh C, Lester J, Hein A, Ekici A, Beckmann M, Fasching P, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambrechts S, Dicks E, Doherty J, Wicklund K, Rossing M, Rudolph A, Chang-Claude J, Wang-Gohrke S, Eilber U, Moysich K, Odunsi K, Sucheston L, Lele S, Wilkens L, Goodman M, Thompson P, Shvetsov Y, Runnebaum I, Dürst M, Hillemanns P, Dörk T, Antonenkova N, Bogdanova N, Leminen A, Pelttari L, Butzow R, Modugno F, Kelley J, Edwards R, Ness R, du Bois A, Heitz F, Schwaab I, Harter P, Matsuo K, Hosono S, Orsulic S, Jensen A, Kjaer S, Hogdall E, Hasmad H, Azmi M, Teo S, Woo Y, Fridley B, Goode E, Cunningham J, Vierkant R, Bruinsma F, Giles G, Liang D, Hildebrandt M, Wu X, Levine D, Bisogna M, Berchuck A, Iversen E, Schildkraut J, Concannon P, Weber R, Cramer D, Terry K, Poole E, Tworoger S, Bandera E, Orlow I, Olson S, Krakstad C, Salvesen H, Tangen I, Bjorge L, van Altena A, Aben K, Kiemeney L, Massuger L, Kellar M, Brooks-Wilson A, Kelemen L, Cook L, Le N, Cybulski C, Yang H, Lissowska J, Brinton L, Wentzensen N, Hogdall C, Lundvall L, Nedergaard L, Baker H, Song H, Eccles D, McNeish I, Paul J, Carty K, Siddiqui N, Glasspool R, Whittemore A, Rothstein J, McGuire V, Sieh W, Ji B, Zheng W, Shu X, Gao Y, Rosen B, Risch H, McLaughlin J, Narod S, Monteiro A, Chen A, Lin H, Permuth-Wey J, Sellers T, Tsai Y, Chen Z, Ziogas A, Anton-Culver H, Gentry-Maharaj A, Menon U, Harrington P, Lee A, Wu A, Pearce C, Coetzee G, Pike M, Dansonka-Mieszkowska A, Timorek A, Rzepecka I, Kupryjanczyk J, Freedman M, Noushmehr H, Easton D, Offit K, Couch F, Gayther S, Pharoah P, Antoniou A, Chenevix-Trench G. Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nature Genetics 2015, 47: 164-171. PMID: 25581431, PMCID: PMC4445140, DOI: 10.1038/ng.3185.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAllelesBRCA1 ProteinBRCA2 ProteinCarcinoma, Ovarian EpithelialFemaleGenes, ReporterGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHeterozygoteHumansMutationNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideQuantitative Trait LociRiskYoung Adult
2014
Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
Wang Z, Zhu B, Zhang M, Parikh H, Jia J, Chung CC, Sampson JN, Hoskins JW, Hutchinson A, Burdette L, Ibrahim A, Hautman C, Raj PS, Abnet CC, Adjei AA, Ahlbom A, Albanes D, Allen NE, Ambrosone CB, Aldrich M, Amiano P, Amos C, Andersson U, Andriole G, Andrulis IL, Arici C, Arslan AA, Austin MA, Baris D, Barkauskas DA, Bassig BA, Beane Freeman LE, Berg CD, Berndt SI, Bertazzi PA, Biritwum RB, Black A, Blot W, Boeing H, Boffetta P, Bolton K, Boutron-Ruault MC, Bracci PM, Brennan P, Brinton LA, Brotzman M, Bueno-de-Mesquita HB, Buring JE, Butler MA, Cai Q, Cancel-Tassin G, Canzian F, Cao G, Caporaso NE, Carrato A, Carreon T, Carta A, Chang GC, Chang IS, Chang-Claude J, Che X, Chen CJ, Chen CY, Chen CH, Chen C, Chen KY, Chen YM, Chokkalingam AP, Chu LW, Clavel-Chapelon F, Colditz GA, Colt JS, Conti D, Cook MB, Cortessis VK, Crawford ED, Cussenot O, Davis FG, De Vivo I, Deng X, Ding T, Dinney CP, Di Stefano AL, Diver WR, Duell EJ, Elena JW, Fan JH, Feigelson HS, Feychting M, Figueroa JD, Flanagan AM, Fraumeni JF, Freedman ND, Fridley BL, Fuchs CS, Gago-Dominguez M, Gallinger S, Gao YT, Gapstur SM, Garcia-Closas M, Garcia-Closas R, Gastier-Foster JM, Gaziano JM, Gerhard DS, Giffen CA, Giles GG, Gillanders EM, Giovannucci EL, Goggins M, Gokgoz N, Goldstein AM, Gonzalez C, Gorlick R, Greene MH, Gross M, Grossman HB, Grubb R, Gu J, Guan P, Haiman CA, Hallmans G, Hankinson SE, Harris CC, Hartge P, Hattinger C, Hayes RB, He Q, Helman L, Henderson BE, Henriksson R, Hoffman-Bolton J, Hohensee C, Holly EA, Hong YC, Hoover RN, Hosgood HD, Hsiao CF, Hsing AW, Hsiung CA, Hu N, Hu W, Hu Z, Huang MS, Hunter DJ, Inskip PD, Ito H, Jacobs EJ, Jacobs KB, Jenab M, Ji BT, Johansen C, Johansson M, Johnson A, Kaaks R, Kamat AM, Kamineni A, Karagas M, Khanna C, Khaw KT, Kim C, Kim IS, Kim JH, Kim YH, Kim YC, Kim YT, Kang CH, Jung YJ, Kitahara CM, Klein AP, Klein R, Kogevinas M, Koh WP, Kohno T, Kolonel LN, Kooperberg C, Kratz CP, Krogh V, Kunitoh H, Kurtz RC, Kurucu N, Lan Q, Lathrop M, Lau CC, Lecanda F, Lee KM, Lee MP, Le Marchand L, Lerner SP, Li D, Liao LM, Lim WY, Lin D, Lin J, Lindstrom S, Linet MS, Lissowska J, Liu J, Ljungberg B, Lloreta J, Lu D, Ma J, Malats N, Mannisto S, Marina N, Mastrangelo G, Matsuo K, McGlynn KA, McKean-Cowdin R, McNeill LH, McWilliams RR, Melin BS, Meltzer PS, Mensah JE, Miao X, Michaud DS, Mondul AM, Moore LE, Muir K, Niwa S, Olson SH, Orr N, Panico S, Park JY, Patel AV, Patino-Garcia A, Pavanello S, Peeters PH, Peplonska B, Peters U, Petersen GM, Picci P, Pike MC, Porru S, Prescott J, Pu X, Purdue MP, Qiao YL, Rajaraman P, Riboli E, Risch HA, Rodabough RJ, Rothman N, Ruder AM, Ryu JS, Sanson M, Schned A, Schumacher FR, Schwartz AG, Schwartz KL, Schwenn M, Scotlandi K, Seow A, Serra C, Serra M, Sesso HD, Severi G, Shen H, Shen M, Shete S, Shiraishi K, Shu XO, Siddiq A, Sierrasesumaga L, Sierri S, Loon Sihoe AD, Silverman DT, Simon M, Southey MC, Spector L, Spitz M, Stampfer M, Stattin P, Stern MC, Stevens VL, Stolzenberg-Solomon RZ, Stram DO, Strom SS, Su WC, Sund M, Sung SW, Swerdlow A, Tan W, Tanaka H, Tang W, Tang ZZ, Tardon A, Tay E, Taylor PR, Tettey Y, Thomas DM, Tirabosco R, Tjonneland A, Tobias GS, Toro JR, Travis RC, Trichopoulos D, Troisi R, Truelove A, Tsai YH, Tucker MA, Tumino R, Van Den Berg D, Van Den Eeden SK, Vermeulen R, Vineis P, Visvanathan K, Vogel U, Wang C, Wang C, Wang J, Wang SS, Weiderpass E, Weinstein SJ, Wentzensen N, Wheeler W, White E, Wiencke JK, Wolk A, Wolpin BM, Wong MP, Wrensch M, Wu C, Wu T, Wu X, Wu YL, Wunder JS, Xiang YB, Xu J, Yang HP, Yang PC, Yatabe Y, Ye Y, Yeboah ED, Yin Z, Ying C, Yu CJ, Yu K, Yuan JM, Zanetti KA, Zeleniuch-Jacquotte A, Zheng W, Zhou B, Mirabello L, Savage SA, Kraft P, Chanock SJ, Yeager M, Landi MT, Shi J, Chatterjee N, Amundadottir LT. Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33. Human Molecular Genetics 2014, 23: 6616-6633. PMID: 25027329, PMCID: PMC4240198, DOI: 10.1093/hmg/ddu363.Peer-Reviewed Original ResearchMeSH KeywordsAllelesChromosomes, Human, Pair 5Computational BiologyDNA MethylationEpigenesis, GeneticFemaleGene Expression Regulation, NeoplasticGene FrequencyGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMembrane ProteinsNeoplasm ProteinsNeoplasmsOdds RatioPolymorphism, Single NucleotideRiskTelomeraseConceptsGenome-wide association studiesIndependent risk lociRisk lociCLPTM1L geneSequential conditional analysesTERT-CLPTM1L regionAllele-specific effectsDistinct cancersCommon susceptibility allelesCancer susceptibility lociTelomerase reverse transcriptaseCommon single nucleotide polymorphismsGenetic architectureCatalytic subunitSingle nucleotide polymorphismsDNA methylationIndependent lociExtensive pleiotropyGene expressionAssociation studiesAssociation analysisSusceptibility lociDifferent cancer typesLociTERT gene
2013
Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA
Earp MA, Kelemen LE, Magliocco AM, Swenerton KD, Chenevix-Trench G, Australian Cancer Study, Australian Ovarian Cancer Study Group, Lu Y, Hein A, Ekici AB, Beckmann MW, Fasching PA, Lambrechts D, Despierre E, Vergote I, Lambrechts S, Doherty JA, Rossing MA, Chang-Claude J, Rudolph A, Friel G, Moysich KB, Odunsi K, Sucheston-Campbell L, Lurie G, Goodman MT, Carney ME, Thompson PJ, Runnebaum IB, Dürst M, Hillemanns P, Dörk T, Antonenkova N, Bogdanova N, Leminen A, Nevanlinna H, Pelttari LM, Butzow R, Bunker CH, Modugno F, Edwards RP, Ness RB, du Bois A, Heitz F, Schwaab I, Harter P, Karlan BY, Walsh C, Lester J, Jensen A, Kjær SK, Høgdall CK, Høgdall E, Lundvall L, Sellers TA, Fridley BL, Goode EL, Cunningham JM, Vierkant RA, Giles GG, Baglietto L, Severi G, Southey MC, Liang D, Wu X, Lu K, Hildebrandt MA, Levine DA, Bisogna M, Schildkraut JM, Iversen ES, Weber RP, Berchuck A, Cramer DW, Terry KL, Poole EM, Tworoger SS, Bandera EV, Chandran U, Orlow I, Olson SH, Wik E, Salvesen HB, Bjorge L, Halle MK, van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Pejovic T, Bean YT, Cybulski C, Gronwald J, Lubinski J, Wentzensen N, Brinton LA, Lissowska J, Garcia-Closas M, Dicks E, Dennis J, Easton DF, Song H, Tyrer JP, Pharoah PD, Eccles D, Campbell IG, Whittemore AS, McGuire V, Sieh W, Rothstein JH, Flanagan JM, Paul J, Brown R, Phelan CM, Risch HA, McLaughlin JR, Narod SA, Ziogas A, Anton-Culver H, Gentry-Maharaj A, Menon U, Gayther SA, Ramus SJ, Wu AH, Pearce CL, Pike MC, Dansonka-Mieszkowska A, Rzepecka IK, Szafron LM, Kupryjanczyk J, Cook LS, Le ND, Brooks-Wilson A, On behalf of the Ovarian Cancer Association Consortium. Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA. Human Genetics 2013, 133: 481-497. PMID: 24190013, PMCID: PMC4063682, DOI: 10.1007/s00439-013-1383-3.Peer-Reviewed Original ResearchConceptsEpithelial ovarian cancerEOC riskAssociation studiesOdds ratioEOC subtypesGenome-wide association studiesMucinous epithelial ovarian cancerWide association studyClear cell epithelial ovarian cancerSerous epithelial ovarian cancerCancer risk allelesUnconditional logistic regressionLog-additive genetic modelEnvironmental risk factorsEuropean descentGWAS resultsPre-defined criteriaGenomic DNAGWAS samplesRisk factorsOvarian cancerRe-evaluation of ABO gene polymorphisms detected in a genome-wide association study and risk of pancreatic ductal adenocarcinoma in a Chinese population
Xu HL, Cheng JR, Zhang W, Wang J, Yu H, Ni QX, Risch HA, Gao YT. Re-evaluation of ABO gene polymorphisms detected in a genome-wide association study and risk of pancreatic ductal adenocarcinoma in a Chinese population. Cancer Communications 2013, 33: 68-73. PMID: 23816557, PMCID: PMC3884064, DOI: 10.5732/cjc.013.10060.Peer-Reviewed Original ResearchConceptsRisk of PDACPancreatic ductal adenocarcinomaCancer riskDuctal adenocarcinomaPopulation-based case-control studyChinese populationCase-control studyPancreatic cancer riskSignificant gene-environment interactionElevated cancer riskFatal malignancyPancreatic cancerTT carriersHealthy controlsGene-environment interactionsGene polymorphismsT alleleC alleleABO variantsWide association studyAssociation studiesMultifactor dimensionality reduction methodAdenocarcinomaRiskABO allelesABO Blood Group and Risk of Pancreatic Cancer: A Study in Shanghai and Meta-Analysis
Risch HA, Lu L, Wang J, Zhang W, Ni Q, Gao YT, Yu H. ABO Blood Group and Risk of Pancreatic Cancer: A Study in Shanghai and Meta-Analysis. American Journal Of Epidemiology 2013, 177: 1326-1337. PMID: 23652164, PMCID: PMC3732019, DOI: 10.1093/aje/kws458.Peer-Reviewed Original ResearchConceptsABO blood groupGroup BBlood groupPancreatic cancerNonendemic populationsGroup ASummary odds ratio (OR) estimatesGastric epithelial expressionPositive Helicobacter pyloriCagA-negative H. pylori strainsCytotoxin-associated genePancreatic cancer casesBlood group BOdds ratio estimatesH. pylori strainsPooled studiesCancer casesEpithelial expressionHigh riskB antigensGroup OSystematic reviewMeta-AnalysisHelicobacter pyloriPylori strains
2011
LIN28B Polymorphisms Influence Susceptibility to Epithelial Ovarian Cancer
Permuth-Wey J, Kim D, Tsai YY, Lin HY, Chen YA, Barnholtz-Sloan J, Birrer MJ, Bloom G, Chanock SJ, Chen Z, Cramer DW, Cunningham JM, Dagne G, Ebbert-Syfrett J, Fenstermacher D, Fridley BL, Garcia-Closas M, Gayther SA, Ge W, Gentry-Maharaj A, Gonzalez-Bosquet J, Goode EL, Iversen E, Jim H, Kong W, McLaughlin J, Menon U, Monteiro AN, Narod SA, Pharoah PD, Phelan CM, Qu X, Ramus SJ, Risch H, Schildkraut JM, Song H, Stockwell H, Sutphen R, Terry KL, Tyrer J, Vierkant RA, Wentzensen N, Lancaster JM, Cheng JQ, Sellers TA, Consortium O. LIN28B Polymorphisms Influence Susceptibility to Epithelial Ovarian Cancer. Cancer Research 2011, 71: 3896-3903. PMID: 21482675, PMCID: PMC3107389, DOI: 10.1158/0008-5472.can-10-4167.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAllelesCarcinoma, Ovarian EpithelialCase-Control StudiesCell Line, TumorDNA, NeoplasmDNA-Binding ProteinsFemaleGenetic Predisposition to DiseaseHumansMicroRNAsMiddle AgedNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideRNA-Binding ProteinsTransfectionConceptsMiRNA biogenesis genesSingle nucleotide polymorphismsBiogenesis genesPutative transcription factorLuciferase reporter assaysMicroRNA biogenesisTranscription factorsPromoter regionTumor suppressorReporter assaysQuantitative RT-PCREOC susceptibilityGenesNucleotide polymorphismsLIN28B overexpressionLIN28B expressionLIN28B geneInfluence susceptibilityRT-PCRExpressionEpithelial ovarian cancerBiogenesisDroshaOvarian cancerFMR1
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 PeopleGenome-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
2007
Alcohol dehydrogenase 3 and risk of esophageal and gastric adenocarcinomas
Terry MB, Gammon MD, Zhang FF, Vaughan TL, Chow WH, Risch HA, Schoenberg JB, Mayne ST, Stanford JL, West AB, Rotterdam H, Blot WJ, Fraumeni JF, Santella RM. Alcohol dehydrogenase 3 and risk of esophageal and gastric adenocarcinomas. Cancer Causes & Control 2007, 18: 1039-1046. PMID: 17665311, DOI: 10.1007/s10552-007-9046-0.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedAlcohol DehydrogenaseAlcohol DrinkingAllelesCase-Control StudiesChi-Square DistributionConfidence IntervalsEsophageal NeoplasmsFemaleGene FrequencyGenotypeHomozygoteHumansInterviews as TopicLogistic ModelsMaleMiddle AgedOdds RatioPolymorphism, GeneticRisk FactorsStomach NeoplasmsUnited StatesConceptsRisk of esophagealEsophageal adenocarcinomaHigh riskGastric Cancer StudyGastric cardia adenocarcinomaGastric adenocarcinomaCarcinoma riskConclusionThese dataCancer riskCardia adenocarcinomaTumor typesAdenocarcinomaAlcohol dehydrogenase 3Common polymorphismsEsophagealRisk estimatesCancer studiesRiskAlcohol dehydrogenase 3 geneDrinkersDehydrogenase 3PolymorphismNondrinkersMethodsWeGenotypesGST, NAT1, CYP1A1 polymorphisms and risk of esophageal and gastric adenocarcinomas
Wideroff L, Vaughan TL, Farin FM, Gammon MD, Risch H, Stanford JL, Chow WH. GST, NAT1, CYP1A1 polymorphisms and risk of esophageal and gastric adenocarcinomas. Cancer Epidemiology 2007, 31: 233-236. PMID: 17646057, PMCID: PMC2268246, DOI: 10.1016/j.cdp.2007.03.004.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedAllelesArylamine N-AcetyltransferaseCase-Control StudiesCytochrome P-450 CYP1A1Esophageal NeoplasmsFemaleGenetic Predisposition to DiseaseGlutathione S-Transferase piGlutathione TransferaseHumansIsoenzymesMaleMiddle AgedOdds RatioPolymerase Chain ReactionPolymorphism, GeneticRisk FactorsStomach NeoplasmsUnited StatesConceptsGastric adenocarcinomaOdds ratioGastric cardia adenocarcinomaEsophageal adenocarcinomaCardia adenocarcinomaElevated riskConfidence intervalsVal genotypePopulation-based case-control studyCYP1A1 Val/ValGSTP1 Val/Val genotypeNoncardia gastric adenocarcinomaEpidemiologic risk factorsRespective odds ratiosRisk of esophagealIle/Val genotypeVal/Val genotypeCase-control studyVal/ValN-acetyltransferase 1Same catchment areaHistologic subgroupsIncident casesRisk factorsGSTT1 genotype
2001
Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives
Runnebaum I, Wang-Gohrke S, Vesprini D, Kreienberg R, Lynch H, Moslehi R, Ghadirian P, Weber B, Godwin A, Risch H, Garber J, Lerman C, Olopade O, Foulkes W, Karlan B, Warner E, Rosen B, Rebbeck T, Tonin P, Dubé M, Kieback D, Narod S. Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives. Pharmacogenetics And Genomics 2001, 11: 635-638. PMID: 11668223, DOI: 10.1097/00008571-200110000-00010.Peer-Reviewed Original ResearchConceptsPROGINS alleleOvarian cancerOral contraceptivesBRCA2 mutationsCarriers of BRCA1Oral contraceptive useOvarian cancer riskHereditary ovarian cancerBRCA2 mutation carriersOral contraception useForms of cancerYear of birthPrior diagnosisBRCA2 carriersProgesterone receptorBreast cancerMutation carriersContraceptive useCancer riskContraception useHereditary breastDisease statusPast exposureCancerBRCA1 mutations