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
2015
Body Mass Index Genetic Risk Score and Endometrial Cancer Risk
Prescott J, Setiawan VW, Wentzensen N, Schumacher F, Yu H, Delahanty R, Bernstein L, Chanock SJ, Chen C, Cook LS, Friedenreich C, Garcia-Closas M, Haiman CA, Le Marchand L, Liang X, Lissowska J, Lu L, Magliocco AM, Olson SH, Risch HA, Shu XO, Ursin G, Yang HP, Kraft P, De Vivo I. Body Mass Index Genetic Risk Score and Endometrial Cancer Risk. PLOS ONE 2015, 10: e0143256. PMID: 26606540, PMCID: PMC4659592, DOI: 10.1371/journal.pone.0143256.Peer-Reviewed Original ResearchConceptsEndometrial cancer riskBody mass indexGenotype risk scoreCancer riskRisk scoreHigher body mass indexRisk allelesIndependent risk factorEndometrial cancer casesExcess body weightRisk factor dataGenetic risk scoreGenome-wide association studiesEndometrial cancerMass indexBMI riskRisk factorsEffect modificationCancer casesRisk lociBody weightCancer shareExploratory analysisStudy designControl participants
2013
Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer
Shen H, Fridley BL, Song H, Lawrenson K, Cunningham JM, Ramus SJ, Cicek MS, Tyrer J, Stram D, Larson MC, Köbel M, Ziogas A, Zheng W, Yang H, Wu A, Wozniak E, Ling Woo Y, Winterhoff B, Wik E, Whittemore A, Wentzensen N, Palmieri Weber R, Vitonis A, Vincent D, Vierkant R, Vergote I, Van Den Berg D, Van Altena A, Tworoger S, Thompson P, Tessier D, Terry K, Teo S, Templeman C, Stram D, Southey M, Sieh W, Siddiqui N, Shvetsov Y, Shu X, Shridhar V, Wang-Gohrke S, Severi G, Schwaab I, Salvesen H, Rzepecka I, Runnebaum I, Anne Rossing M, Rodriguez-Rodriguez L, Risch H, Renner S, Poole E, Pike M, Phelan C, Pelttari L, Pejovic T, Paul J, Orlow I, Zawiah Omar S, Olson S, Odunsi K, Nickels S, Nevanlinna H, Ness R, Narod S, Nakanishi T, Moysich K, Monteiro A, Moes-Sosnowska J, Modugno F, Menon U, McLaughlin J, McGuire V, Matsuo K, Mat Adenan N, Massuger L, Lurie G, Lundvall L, Lubiński J, Lissowska J, Levine D, Leminen A, Lee A, Le N, Lambrechts S, Lambrechts D, Kupryjanczyk J, Krakstad C, Konecny G, Krüger Kjaer S, Kiemeney L, Kelemen L, Keeney G, Karlan B, Karevan R, Kalli K, Kajiyama H, Ji B, Jensen A, Jakubowska A, Iversen E, Hosono S, Høgdall C, Høgdall E, Hoatlin M, Hillemanns P, Heitz F, Hein R, Harter P, Halle M, Hall P, Gronwald J, Gore M, Goodman M, Giles G, Gentry-Maharaj A, Garcia-Closas M, Flanagan J, Fasching P, Ekici A, Edwards R, Eccles D, Easton D, Dürst M, du Bois A, Dörk T, Doherty J, Despierre E, Dansonka-Mieszkowska A, Cybulski C, Cramer D, Cook L, Chen X, Charbonneau B, Chang-Claude J, Campbell I, Butzow R, Bunker C, Brueggmann D, Brown R, Brooks-Wilson A, Brinton L, Bogdanova N, Block M, Benjamin E, Beesley J, Beckmann M, Bandera E, Baglietto L, Bacot F, Armasu S, Antonenkova N, Anton-Culver H, Aben K, Liang D, Wu X, Lu K, Hildebrandt M, Schildkraut J, Sellers T, Huntsman D, Berchuck A, Chenevix-Trench G, Gayther S, Pharoah P, Laird P, Goode E, Leigh Pearce C. Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer. Nature Communications 2013, 4: 1628. PMID: 23535649, PMCID: PMC3848248, DOI: 10.1038/ncomms2629.Peer-Reviewed Original ResearchConceptsDNA methylationAnalyse DNA methylationClear cell epithelial ovarian cancerSingle nucleotide polymorphismsEpigenetic analysisExpression patternsExpression profilesDifferent single nucleotide polymorphismsCpG island methylator phenotypeSusceptibility genesMethylationDistinct mechanismsGenesMethylator phenotypeHNF1BOvarian cancerRisk allelesSerous epithelial ovarian cancerEpithelial ovarian cancerAssociatesEpithelial ovarian cancer riskGenomePromoterPhenotypeAlleles
2010
Genetic Variation in the Prostate Stem Cell Antigen Gene and Upper Gastrointestinal Cancer in White Individuals
Lochhead P, Frank B, Hold GL, Rabkin CS, Ng MT, Vaughan TL, Risch HA, Gammon MD, Lissowska J, Weck MN, Raum E, Müller H, Illig T, Klopp N, Dawson A, McColl KE, Brenner H, Chow W, El–Omar E. Genetic Variation in the Prostate Stem Cell Antigen Gene and Upper Gastrointestinal Cancer in White Individuals. Gastroenterology 2010, 140: 435-441. PMID: 21070776, PMCID: PMC3031760, DOI: 10.1053/j.gastro.2010.11.001.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAntigens, NeoplasmCarcinoma, Squamous CellCase-Control StudiesEsophageal NeoplasmsFemaleGastritis, AtrophicGastrointestinal NeoplasmsGenetic Predisposition to DiseaseGPI-Linked ProteinsHelicobacter InfectionsHelicobacter pyloriHumansMaleNeoplasm ProteinsPolymorphism, Single NucleotideRiskWhite PeopleConceptsChronic atrophic gastritisNoncardia gastric cancerUpper gastrointestinal cancerGastric cancer casesProstate stem cell antigen (PSCA) geneCancer casesGastric cancerAtrophic gastritisGastrointestinal cancerRs2294008 polymorphismWhite individualsRisk allelesHelicobacter pylori-infected subjectsPylori-infected subjectsPopulation-based studySquamous cell carcinomaGastric cancer patientsGastric cardia cancerCase-control studyEsophageal cancer casesDiffuse histologic typeAntigen geneProximal cancersGastric atrophyHistologic type