2018
rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology
Kelemen LE, Earp M, Fridley BL, Chenevix-Trench G, Group O, Fasching PA, Beckmann MW, Ekici AB, Hein A, Lambrechts D, Lambrechts S, Van Nieuwenhuysen E, Vergote I, Rossing MA, Doherty JA, Chang-Claude J, Behrens S, Moysich KB, Cannioto R, Lele S, Odunsi K, Goodman MT, Shvetsov YB, Thompson PJ, Wilkens LR, Dörk T, Antonenkova N, Bogdanova N, Hillemanns P, Runnebaum IB, du Bois A, Harter P, Heitz F, Schwaab I, Butzow R, Pelttari LM, Nevanlinna H, Modugno F, Edwards RP, Kelley JL, Ness RB, Karlan BY, Lester J, Orsulic S, Walsh C, Kjaer SK, Jensen A, Cunningham JM, Vierkant RA, Giles GG, Bruinsma F, Southey MC, Hildebrandt MAT, Liang D, Lu K, Wu X, Sellers TA, Levine DA, Schildkraut JM, Iversen ES, Terry KL, Cramer DW, Tworoger SS, Poole EM, Bandera EV, Olson SH, Orlow I, Thomsen L, Bjorge L, Krakstad C, Tangen IL, Kiemeney LA, Aben KKH, Massuger LFAG, van Altena AM, Pejovic T, Bean Y, Kellar M, Cook LS, Le ND, Brooks-Wilson A, Gronwald J, Cybulski C, Jakubowska A, Lubiński J, Wentzensen N, Brinton LA, Lissowska J, Hogdall E, Engelholm SA, Hogdall C, Lundvall L, Nedergaard L, Pharoah PDP, Dicks E, Song H, Tyrer JP, McNeish I, Siddiqui N, Carty K, Glasspool R, Paul J, Campbell IG, Eccles D, Whittemore AS, McGuire V, Rothstein JH, Sieh W, Narod SA, Phelan CM, McLaughlin JR, Risch HA, Anton-Culver H, Ziogas A, Menon U, Gayther SA, Gentry-Maharaj A, Ramus SJ, Wu AH, Pearce CL, Lee AW, Pike MC, Kupryjanczyk J, Podgorska A, Plisiecka-Halasa J, Sawicki W, Goode EL, Berchuck A, Consortium O. rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology. International Journal Of Molecular Sciences 2018, 19: 2473. PMID: 30134598, PMCID: PMC6163881, DOI: 10.3390/ijms19092473.Peer-Reviewed Original ResearchAdenocarcinoma, MucinousCase-Control StudiesFemaleGene Expression Regulation, NeoplasticGenetic Association StudiesHumansHydro-LyasesLogistic ModelsMiddle AgedOdds RatioOvarian NeoplasmsPolymorphism, Single NucleotideProteinsQuantitative Trait LociRiskRNA, AntisenseSignal TransductionThymidylate Synthase
2017
Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci
Kar SP, Adler E, Tyrer J, Hazelett D, Anton-Culver H, Bandera EV, Beckmann MW, Berchuck A, Bogdanova N, Brinton L, Butzow R, Campbell I, Carty K, Chang-Claude J, Cook LS, Cramer DW, Cunningham JM, Dansonka-Mieszkowska A, Doherty JA, Dörk T, Dürst M, Eccles D, Fasching PA, Flanagan J, Gentry-Maharaj A, Glasspool R, Goode EL, Goodman MT, Gronwald J, Heitz F, Hildebrandt MA, Høgdall E, Høgdall CK, Huntsman DG, Jensen A, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Kupryjanczyk J, Lambrechts D, Levine DA, Li Q, Lissowska J, Lu KH, Lubiński J, Massuger LF, McGuire V, McNeish I, Menon U, Modugno F, Monteiro AN, Moysich KB, Ness RB, Nevanlinna H, Paul J, Pearce CL, Pejovic T, Permuth JB, Phelan C, Pike MC, Poole EM, Ramus SJ, Risch HA, Rossing MA, Salvesen HB, Schildkraut JM, Sellers TA, Sherman M, Siddiqui N, Sieh W, Song H, Southey M, Terry KL, Tworoger SS, Walsh C, Wentzensen N, Whittemore AS, Wu AH, Yang H, Zheng W, Ziogas A, Freedman ML, Gayther SA, Pharoah PD, Lawrenson K. Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci. British Journal Of Cancer 2017, 116: 524-535. PMID: 28103614, PMCID: PMC5318969, DOI: 10.1038/bjc.2016.426.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Ovarian EpithelialCase-Control StudiesCell Line, TumorCell Transformation, NeoplasticCystadenocarcinoma, SerousFemaleGene AmplificationGene Expression ProfilingGene Expression Regulation, NeoplasticGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMeta-Analysis as TopicMicroarray AnalysisNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideConceptsGenome-wide association studiesTarget genesTranscription factorsRisk lociOvarian cancer susceptibility lociCancer risk lociDifferential gene expressionCancer susceptibility lociMolecular Signatures DatabaseShRNA-mediated silencingGene setsEnrichment analysisGene expressionTranscriptomic perturbationsAssociation studiesSusceptibility lociGenesLociOvarian cancer susceptibilityRisk variantsAgnostic evaluationCell of originCancer susceptibilityBiological mechanismsPathway
2016
Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer
Hampras SS, Sucheston-Campbell LE, Cannioto R, Chang-Claude J, Modugno F, Dörk T, Hillemanns P, Preus L, Knutson KL, Wallace PK, Hong CC, Friel G, Davis W, Nesline M, Pearce CL, Kelemen LE, Goodman MT, Bandera EV, Terry KL, Schoof N, Eng KH, Clay A, Singh PK, Joseph JM, Aben KK, Anton-Culver H, Antonenkova N, Baker H, Bean Y, Beckmann MW, Bisogna M, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bruinsma F, Butzow R, Campbell IG, Carty K, Cook LS, Cramer DW, Cybulski C, Dansonka-Mieszkowska A, Dennis J, Despierre E, Dicks E, Doherty JA, du Bois A, Dürst M, Easton D, Eccles D, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Gronwald J, Harrington P, Harter P, Hasmad HN, Hein A, Heitz F, Hildebrandt MA, Hogdall C, Hogdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji BT, Karlan BY, Kellar M, Kelley JL, Kiemeney LA, Klapdor R, Kolomeyevskaya N, Krakstad C, Kjaer SK, Kruszka B, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lissowska J, Liu S, Lu K, Lubinski J, Lundvall L, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Moes-Sosnowska J, Narod SA, Nedergaard L, Nevalinna H, Nickels S, Nevanlinna H, Olson S, Orlow I, Weber R, Paul J, Pejovic T, Pelttari L, Perkins B, Permuth-Wey J, Pike M, Plisiecka-Halasa J, Poole E, Risch H, Rossing M, Rothstein J, Rudolph A, Runnebaum I, Rzepecka I, Salvesen H, Schernhammer E, Schmitt K, Schwaab I, Shu X, Shvetsov Y, Siddiqui N, Sieh W, Song H, Southey M, Tangen I, Teo S, Thompson P, Timorek A, Tsai Y, Tworoger S, Tyrer J, van Altena A, Vergote I, Vierkant R, Walsh C, Wang-Gohrke S, Wentzensen N, Whittemore A, Wicklund K, Wilkens L, Wu A, Wu X, Woo Y, Yang H, Zheng W, Ziogas A, Gayther S, Ramus S, Sellers T, Schildkraut J, Phelan C, Berchuck A, Chenevix-Trench G, Cunningham J, Pharoah P, Ness R, Odunsi K, Goode E, Moysich K. Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer. Oncotarget 2016, 7: 69097-69110. PMID: 27533245, PMCID: PMC5340115, DOI: 10.18632/oncotarget.10215.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinoma, Clear CellAdultAgedCarcinoma, Ovarian EpithelialFemaleGene Expression Regulation, NeoplasticGene FrequencyGenetic Predisposition to DiseaseGenotypeHumansMiddle AgedNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideProtein Serine-Threonine KinasesReceptor, Transforming Growth Factor-beta Type IIReceptors, Transforming Growth Factor betaRisk FactorsT-Lymphocytes, RegulatoryConceptsOvarian cancerEpithelial ovarian cancer casesClear cell ovarian cancerClear cell EOCMediators of immunosuppressionSignificant global associationSubset of CD4Regulatory T cellsCell pathwaysOvarian cancer patientsOvarian cancer casesImmune complex receptorsGene-level associationsHistologic subtypeEOC patientsSignificant single SNP associationCancer patientsCancer casesT cellsT lymphocytesClear cellsImmune moleculesMRNA expressionCancerExpression levels
2015
LINC00472 expression is regulated by promoter methylation and associated with disease-free survival in patients with grade 2 breast cancer
Shen Y, Wang Z, Loo LW, Ni Y, Jia W, Fei P, Risch HA, Katsaros D, Yu H. LINC00472 expression is regulated by promoter methylation and associated with disease-free survival in patients with grade 2 breast cancer. Breast Cancer Research And Treatment 2015, 154: 473-482. PMID: 26564482, PMCID: PMC4854534, DOI: 10.1007/s10549-015-3632-8.Peer-Reviewed Original ResearchMeSH KeywordsBreast NeoplasmsComparative Genomic HybridizationDatabases, GeneticDisease-Free SurvivalDNA MethylationFemaleGene DosageGene Expression Regulation, NeoplasticGenes, Tumor SuppressorHumansPromoter Regions, GeneticRNA, Long NoncodingConceptsDisease-free survivalLINC00472 expressionGrade 2 tumorsBreast cancerMolecular subtypesBreast tumorsFavorable molecular subtypesGrade 2 breast cancerBreast cancer managementLow-grade tumorsPromoter methylationBreast cancer progressionMultiple clinical datasetsPatient survivalTumor gradeLong non-coding RNAsEstrogen receptorCancer managementDysregulation of lncRNAsLINC00472Clinical implicationsPathogenic processesTumorsCancerPatientsNetwork-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk
Kar SP, Tyrer JP, Li Q, Lawrenson K, Aben KK, Anton-Culver H, Antonenkova N, Chenevix-Trench G, Study O, Group A, Baker H, Bandera EV, Bean YT, Beckmann MW, Berchuck A, Bisogna M, Bjørge L, Bogdanova N, Brinton L, Brooks-Wilson A, Butzow R, Campbell I, Carty K, Chang-Claude J, Chen YA, Chen Z, Cook LS, Cramer D, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, Dennis J, Dicks E, Doherty JA, Dörk T, du Bois A, Dürst M, Eccles D, Easton DF, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Goode EL, Goodman MT, Grownwald J, Harrington P, Harter P, Hein A, Heitz F, Hildebrandt MA, Hillemanns P, Hogdall E, Hogdall CK, Hosono S, Iversen ES, Jakubowska A, Paul J, Jensen A, Ji BT, Karlan BY, Kjaer SK, Kelemen LE, Kellar M, Kelley J, Kiemeney LA, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger L, Matsuo K, McGuire V, McLaughlin JR, McNeish IA, Menon U, Modugno F, Moysich KB, Narod SA, Nedergaard L, Ness RB, Nevanlinna H, Odunsi K, Olson SH, Orlow I, Orsulic S, Weber RP, Pearce CL, Pejovic T, Pelttari LM, Permuth-Wey J, Phelan CM, Pike MC, Poole EM, Ramus SJ, Risch HA, Rosen B, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schildkraut JM, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Sieh W, Song H, Southey MC, Sucheston-Campbell LE, Tangen IL, Teo SH, Terry KL, Thompson PJ, Timorek A, Tsai YY, Tworoger SS, van Altena AM, Van Nieuwenhuysen E, Vergote I, Vierkant RA, Wang-Gohrke S, Walsh C, Wentzensen N, Whittemore AS, Wicklund KG, Wilkens LR, Woo YL, Wu X, Wu A, Yang H, Zheng W, Ziogas A, Sellers TA, Monteiro AN, Freedman ML, Gayther SA, Pharoah PD. Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk. Cancer Epidemiology Biomarkers & Prevention 2015, 24: 1574-1584. PMID: 26209509, PMCID: PMC4592449, DOI: 10.1158/1055-9965.epi-14-1270.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesTF genesGenome-wide significant risk lociAssociation studiesTranscription factor genesNetwork of genesPutative target genesSignificant risk lociGene-level testsIndependent association studiesContext-specific datasetsSerous ovarian cancer riskCancer Genome AtlasLocus functionsTarget genesFactor genesEnrichment analysisRisk lociGene expressionTop signalsGenesMicroarray datasetsNetworks AssociatedEOC tumorsGenome AtlasCis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer
Lawrenson K, Li Q, Kar S, Seo JH, Tyrer J, Spindler TJ, Lee J, Chen Y, Karst A, Drapkin R, Aben KK, Anton-Culver H, Antonenkova N, Baker H, Bandera E, Bean Y, Beckmann M, Berchuck A, Bisogna M, Bjorge L, Bogdanova N, Brinton L, Brooks-Wilson A, Bruinsma F, Butzow R, Campbell I, Carty K, Chang-Claude J, Chenevix-Trench G, Chen A, Chen Z, Cook L, Cramer D, Cunningham J, Cybulski C, Dansonka-Mieszkowska A, Dennis J, Dicks E, Doherty J, Dörk T, du Bois A, Dürst M, Eccles D, Easton D, Edwards R, Eilber U, Ekici A, Fasching P, Fridley B, Gao Y, Gentry-Maharaj A, Giles G, Glasspool R, Goode E, Goodman M, Grownwald J, Harrington P, Harter P, Hasmad H, Hein A, Heitz F, Hildebrandt M, Hillemanns P, Hogdall E, Hogdall C, Hosono S, Iversen E, Jakubowska A, James P, Jensen A, Ji B, Karlan B, Kruger Kjaer S, Kelemen L, Kellar M, Kelley J, Kiemeney L, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le N, Lee A, Lele S, Leminen A, Lester J, Levine D, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger L, Matsuo K, McGuire V, McLaughlin J, Nevanlinna H, McNeish I, Menon U, Modugno F, Moysich K, Narod S, Nedergaard L, Ness R, Azmi M, Odunsi K, Olson S, Orlow I, Orsulic S, Weber R, Pearce C, Pejovic T, Pelttari L, Permuth-Wey J, Phelan C, Pike M, Poole E, Ramus S, Risch H, Rosen B, Rossing M, Rothstein J, Rudolph A, Runnebaum I, Rzepecka I, Salvesen H, Schildkraut J, Schwaab I, Sellers T, Shu X, Shvetsov Y, Siddiqui N, Sieh W, Song H, Southey M, Sucheston L, Tangen I, Teo S, Terry K, Thompson P, Timorek A, Tsai Y, Tworoger S, van Altena A, Van Nieuwenhuysen E, Vergote I, Vierkant R, Wang-Gohrke S, Walsh C, Wentzensen N, Whittemore A, Wicklund K, Wilkens L, Woo Y, Wu X, Wu A, Yang H, Zheng W, Ziogas A, Monteiro A, Pharoah P, Gayther S, Freedman M. Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer. Nature Communications 2015, 6: 8234. PMID: 26391404, PMCID: PMC4580986, DOI: 10.1038/ncomms9234.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Ovarian EpithelialCell Line, TumorFemaleGene Expression Regulation, NeoplasticGenetic Association StudiesGenetic Predisposition to DiseaseHomeodomain ProteinsHumansNeoplasm ProteinsNeoplasms, Glandular and EpithelialNuchal CordOvarian NeoplasmsProtein BindingQuantitative Trait LociConceptsCandidate susceptibility genesExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisChromosome conformation captureGenome-wide association studiesSusceptibility genesCis-eQTL analysisHigh-grade serous epithelial ovarian cancerAnchorage-independent growthConformation captureHOXD9 promoterTranscriptomic profilingCausal variantsFunctional validationRisk lociLocus analysisAssociation studiesBroader roleFunctional roleGenesContact inhibitionRisk variantsPopulation-doubling timePrecursor cellsHOXD9MicroRNA let‐7a modifies the effect of self‐renewal gene HIWI on patient survival of epithelial ovarian cancer
Lu L, Katsaros D, Risch HA, Canuto EM, Biglia N, Yu H. MicroRNA let‐7a modifies the effect of self‐renewal gene HIWI on patient survival of epithelial ovarian cancer. Molecular Carcinogenesis 2015, 55: 357-365. PMID: 25630839, DOI: 10.1002/mc.22285.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overArgonaute ProteinsCarcinoma, Ovarian EpithelialFemaleGene Expression Regulation, NeoplasticHumansKaplan-Meier EstimateMicroRNAsMiddle AgedNeoplasms, Glandular and EpithelialOvarian NeoplasmsOvaryPrognosisConceptsEpithelial ovarian cancerKaplan-Meier survival curvesOverall survivalHIWI expressionLet-7a expressionPatient survivalLet-7aClinical relevanceMultivariate Cox proportional hazards regression analysisCox proportional hazards regression analysisCox proportional hazards regression modelSurvival curvesProportional hazards regression analysisProportional hazards regression modelsLow let-7aHazards regression analysisRisk of deathPoor overall survivalHazards regression modelsMiRNA let-7aPrimary EOC tissuesQuantitative reverse transcription PCRU-shape associationEOC prognosisPrognostic significance
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
2012
Association of large noncoding RNA HOTAIR expression and its downstream intergenic CpG island methylation with survival in breast cancer
Lu L, Zhu G, Zhang C, Deng Q, Katsaros D, Mayne ST, Risch HA, Mu L, Canuto EM, Gregori G, Benedetto C, Yu H. Association of large noncoding RNA HOTAIR expression and its downstream intergenic CpG island methylation with survival in breast cancer. Breast Cancer Research And Treatment 2012, 136: 875-883. PMID: 23124417, DOI: 10.1007/s10549-012-2314-z.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBreast NeoplasmsCpG IslandsDNA MethylationFemaleGene Expression Regulation, NeoplasticHumansMiddle AgedMultivariate AnalysisPrognosisProportional Hazards ModelsRNA, Long NoncodingSomatomedinsYoung AdultConceptsPrimary breast cancerBreast cancerHOTAIR expressionPathologic featuresCox proportional hazards regression modelProportional hazards regression modelsLow HOTAIR expressionUnfavorable disease characteristicsHazards regression modelsIndependent prognostic markerHigh HOTAIR expressionBreast cancer progressionQuantitative RT-PCRPatient survivalDisease characteristicsMethylation-specific PCRPrognostic markerLower riskSignificant associationRNA HOTAIRCancerCancer progressionBiologic relevanceRT-PCRDNA methylation
2011
Physical activity and breast cancer survival: an epigenetic link through reduced methylation of a tumor suppressor gene L3MBTL1
Zeng H, Irwin ML, Lu L, Risch H, Mayne S, Mu L, Deng Q, Scarampi L, Mitidieri M, Katsaros D, Yu H. Physical activity and breast cancer survival: an epigenetic link through reduced methylation of a tumor suppressor gene L3MBTL1. Breast Cancer Research And Treatment 2011, 133: 127-135. PMID: 21837478, DOI: 10.1007/s10549-011-1716-7.Peer-Reviewed Original ResearchMeSH KeywordsBreast NeoplasmsCarcinoma, Ductal, BreastCarcinoma, LobularChromosomal Proteins, Non-HistoneDNA MethylationEpigenesis, GeneticFemaleGene ExpressionGene Expression ProfilingGene Expression Regulation, NeoplasticGenes, Tumor SuppressorHumansKaplan-Meier EstimateMotor ActivityRepressor ProteinsTumor Suppressor ProteinsConceptsBreast cancer patientsBreast cancer survivalCancer patientsPhysical activityOverall survivalSurvival outcomesTumor suppressor geneCancer survivalHormone receptor-positive tumorsModerate-intensity aerobic exerciseHigh expressionBreast cancer deathsReceptor-positive tumorsRandomized clinical trialsExercise-related changesSuppressor genePeripheral blood leukocytesBreast cancer diagnosisGene expressionDisease recurrenceAerobic exerciseCancer deathClinical trialsTumor featuresBlood leukocytes
2010
Let-7a regulation of insulin-like growth factors in breast cancer
Lu L, Katsaros D, Zhu Y, Hoffman A, Luca S, Marion CE, Mu L, Risch H, Yu H. Let-7a regulation of insulin-like growth factors in breast cancer. Breast Cancer Research And Treatment 2010, 126: 687-694. PMID: 20848182, DOI: 10.1007/s10549-010-1168-5.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBreast NeoplasmsDNA MethylationEnzyme-Linked Immunosorbent AssayGene Expression Regulation, NeoplasticHeLa CellsHumansMicroRNAsMiddle AgedPrognosisReverse Transcriptase Polymerase Chain ReactionSomatomedinsConceptsIGF expressionBreast cancerOvarian cancerInsulin-like growth factorDisease-free survivalCancer cellsAction of IGFBreast cancer patientsExpression of IGFHigh-grade tumorsIGF-II expressionPR-negative cancerLet-7aQuantitative methylation-specific PCRBreast cancer samplesOverall survivalFavorable prognosisPatient survivalCancer patientsGrade tumorsIGF mRNAsMethylation-specific PCRDisease featuresCancerCancer samples
2008
Cyclin E Overexpression Relates to Ovarian Cancer Histology but not to Risk Factors
Risch HA. Cyclin E Overexpression Relates to Ovarian Cancer Histology but not to Risk Factors. Cancer Epidemiology Biomarkers & Prevention 2008, 17: 1841-1841. PMID: 18628442, DOI: 10.1158/1055-9965.epi-08-0271.Peer-Reviewed Original ResearchBiomarkers, TumorCyclin EDNA, NeoplasmFemaleGene Expression Regulation, NeoplasticHumansMorbidityNeoplasm StagingOvarian NeoplasmsRisk FactorsUnited States
2006
A Functional Polymorphism of Toll-Like Receptor 4 Gene Increases Risk of Gastric Carcinoma and Its Precursors
Hold GL, Rabkin CS, Chow W, Smith MG, Gammon MD, Risch HA, Vaughan TL, McColl KE, Lissowska J, Zatonski W, Schoenberg JB, Blot WJ, Mowat NA, Fraumeni JF, El–Omar E. A Functional Polymorphism of Toll-Like Receptor 4 Gene Increases Risk of Gastric Carcinoma and Its Precursors. Gastroenterology 2006, 132: 905-912. PMID: 17324405, DOI: 10.1053/j.gastro.2006.12.026.Peer-Reviewed Original ResearchMeSH KeywordsAchlorhydriaCarcinomaCase-Control StudiesCohort StudiesEuropeFemaleGastritis, AtrophicGene Expression Regulation, NeoplasticGene FrequencyGenetic Predisposition to DiseaseGenotypeHelicobacter InfectionsHelicobacter pyloriHumansLogistic ModelsMaleOdds RatioPhenotypePolymorphism, GeneticPopulation SurveillancePrecancerous ConditionsRegistriesRisk AssessmentRisk FactorsStomach NeoplasmsToll-Like Receptor 4United StatesConceptsH pylori infectionGastric carcinoma patientsNoncardia gastric carcinomaOdds ratioGastric carcinomaCardia carcinomaGastric atrophyCarcinoma patientsPylori infectionG polymorphismPopulation-based case-control studyUpper gastrointestinal tract cancerSevere gastric atrophyFrequency-matched controlsGastric acid outputGastrointestinal tract cancerGastric cancer patientsGastric cardia carcinomaCase-control studyEsophageal squamous cellsPotential confounding factorsGastric carcinoma casesGastric changesTract cancerAcid outputThe relationship of insulin-like growth factor-II, insulin-like growth factor binding protein-3, and estrogen receptor-alpha expression to disease progression in epithelial ovarian cancer.
Lu L, Katsaros D, Wiley A, de la Longrais I, Risch HA, Puopolo M, Yu H. The relationship of insulin-like growth factor-II, insulin-like growth factor binding protein-3, and estrogen receptor-alpha expression to disease progression in epithelial ovarian cancer. Clinical Cancer Research 2006, 12: 1208-1214. PMID: 16489075, DOI: 10.1158/1078-0432.ccr-05-1801.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBiomarkers, TumorDisease ProgressionEpithelial CellsEstrogen Receptor alphaFemaleGene Expression Regulation, NeoplasticHumansInsulin-Like Growth Factor Binding Protein 3Insulin-Like Growth Factor IIMiddle AgedNeoplasm StagingOvarian NeoplasmsReverse Transcriptase Polymerase Chain ReactionRNA, NeoplasmSurvival AnalysisConceptsIGF-II expressionEstrogen receptor alpha expressionReceptor alpha expressionEpithelial ovarian cancerIGF-IIDisease progressionOvarian cancerInsulin-like growth factor (IGF) systemPrimary epithelial ovarian cancerProtein 3Insulin-like growth factorIGF signalingHigh IGF-IILarge residual lesionExpression of estrogenInsulin-like growth factor IIIGFBP-3 expressionEffects of IGFOvarian cancer treatmentGrowth factor systemFresh tumor specimensGrowth factor IIQuantitative reverse transcription PCRIGFBP-3Serous histology
1997
Re: Relationship Between Lifetime Ovulatory Cycles and Overexpression of Mutant p53 in Epithelial Ovarian Cancer
Risch H. Re: Relationship Between Lifetime Ovulatory Cycles and Overexpression of Mutant p53 in Epithelial Ovarian Cancer. Journal Of The National Cancer Institute 1997, 89: 1726-1727. PMID: 9390546, DOI: 10.1093/jnci/89.22.1726-a.Peer-Reviewed Original ResearchMeSH KeywordsCarcinomaFemaleGene Expression Regulation, NeoplasticGenes, p53HumansMenstrual CycleMutationOdds RatioOvarian NeoplasmsRiskTumor Suppressor Protein p53