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 chromosome
2015
TERT gene harbors multiple variants associated with pancreatic cancer susceptibility
Campa D, Rizzato C, Stolzenberg-Solomon R, Pacetti P, Vodicka P, Cleary SP, Capurso G, Bueno-de-Mesquita HB, Werner J, Gazouli M, Butterbach K, Ivanauskas A, Giese N, Petersen GM, Fogar P, Wang Z, Bassi C, Ryska M, Theodoropoulos GE, Kooperberg C, Li D, Greenhalf W, Pasquali C, Hackert T, Fuchs CS, Mohelnikova-Duchonova B, Sperti C, Funel N, Dieffenbach AK, Wareham NJ, Buring J, Holcátová I, Costello E, Zambon CF, Kupcinskas J, Risch HA, Kraft P, Bracci PM, Pezzilli R, Olson SH, Sesso HD, Hartge P, Strobel O, Małecka-Panas E, Visvanathan K, Arslan AA, Pedrazzoli S, Souček P, Gioffreda D, Key TJ, Talar-Wojnarowska R, Scarpa A, Mambrini A, Jacobs EJ, Jamroziak K, Klein A, Tavano F, Bambi F, Landi S, Austin MA, Vodickova L, Brenner H, Chanock SJ, Delle Fave G, Piepoli A, Cantore M, Zheng W, Wolpin BM, Amundadottir LT, Canzian F. TERT gene harbors multiple variants associated with pancreatic cancer susceptibility. International Journal Of Cancer 2015, 137: 2175-2183. PMID: 25940397, PMCID: PMC4548797, DOI: 10.1002/ijc.29590.Peer-Reviewed Original ResearchConceptsPancreatic cancer riskCancer riskTelomerase reverse transcriptasePancreatic cancerSingle nucleotide polymorphismsAdditional single nucleotide polymorphismsTelomerase RNA component genePancreatic cancer susceptibilitySignificant associationCommon susceptibility lociCancer susceptibilityStatistical significanceRs401681RiskReverse transcriptaseTERT locusCancerDisease researchMultiple testingNucleotide polymorphismsLinkage disequilibriumIndependent variantsSusceptibility loci
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
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Bojesen SE, Pooley KA, Johnatty SE, Beesley J, Michailidou K, Tyrer JP, Edwards SL, Pickett HA, Shen HC, Smart CE, Hillman KM, Mai PL, Lawrenson K, Stutz MD, Lu Y, Karevan R, Woods N, Johnston RL, French JD, Chen X, Weischer M, Nielsen SF, Maranian MJ, Ghoussaini M, Ahmed S, Baynes C, Bolla MK, Wang Q, Dennis J, McGuffog L, Barrowdale D, Lee A, Healey S, Lush M, Tessier DC, Vincent D, Bacot F, Vergote I, Lambrechts S, Despierre E, Risch H, González-Neira A, Rossing M, Pita G, Doherty J, Álvarez N, Larson M, Fridley B, Schoof N, Chang-Claude J, Cicek M, Peto J, Kalli K, Broeks A, Armasu S, Schmidt M, Braaf L, Winterhoff B, Nevanlinna H, Konecny G, Lambrechts D, Rogmann L, Guénel P, Teoman A, Milne R, Garcia J, Cox A, Shridhar V, Burwinkel B, Marme F, Hein R, Sawyer E, Haiman C, Wang-Gohrke S, Andrulis I, Moysich K, Hopper J, Odunsi K, Lindblom A, Giles G, Brenner H, Simard J, Lurie G, Fasching P, Carney M, Radice P, Wilkens L, Swerdlow A, Goodman M, Brauch H, Garcia-Closas M, Hillemanns P, Winqvist R, Dürst M, Devilee P, Runnebaum I, Jakubowska A, Lubinski J, Mannermaa A, Butzow R, Bogdanova N, Dörk T, Pelttari L, Zheng W, Leminen A, Anton-Culver H, Bunker C, Kristensen V, Ness R, Muir K, Edwards R, Meindl A, Heitz F, Matsuo K, du Bois A, Wu A, Harter P, Teo S, Schwaab I, Shu X, Blot W, Hosono S, Kang D, Nakanishi T, Hartman M, Yatabe Y, Hamann U, Karlan B, Sangrajrang S, Kjaer S, Gaborieau V, Jensen A, Eccles D, Høgdall E, Shen C, Brown J, Woo Y, Shah M, Azmi M, Luben R, Omar S, Czene K, Vierkant R, Nordestgaard B, Flyger H, Vachon C, Olson J, Wang X, Levine D, Rudolph A, Weber R, Flesch-Janys D, Iversen E, Nickels S, Schildkraut J, Silva I, Cramer D, Gibson L, Terry K, Fletcher O, Vitonis A, van der Schoot C, Poole E, Hogervorst F, Tworoger S, Liu J, Bandera E, Li J, Olson S, Humphreys K, Orlow I, Blomqvist C, Rodriguez-Rodriguez L, Aittomäki K, Salvesen H, Muranen T, Wik E, Brouwers B, Krakstad C, Wauters E, Halle M, Wildiers H, Kiemeney L, Mulot C, Aben K, Laurent-Puig P, Altena A, Truong T, Massuger L, Benitez J, Pejovic T, Perez J, Hoatlin M, Zamora M, Cook L, Balasubramanian S, Kelemen L, Schneeweiss A, Le N, Sohn C, Brooks-Wilson A, Tomlinson I, Kerin M, Miller N, Cybulski C, Henderson B, Menkiszak J, Schumacher F, Wentzensen N, Le Marchand L, Yang H, Mulligan A, Glendon G, Engelholm S, Knight J, Høgdall C, Apicella C, Gore M, Tsimiklis H, Song H, Southey M, Jager A, den Ouweland A, Brown R, Martens J, Flanagan J, Kriege M, Paul J, Margolin S, Siddiqui N, Severi G, Whittemore A, Baglietto L, McGuire V, Stegmaier C, Sieh W, Müller H, Arndt V, Labrèche F, Gao Y, Goldberg M, Yang G, Dumont M, McLaughlin J, Hartmann A, Ekici A, Beckmann M, Phelan C, Lux M, Permuth-Wey J, Peissel B, Sellers T, Ficarazzi F, Barile M, Ziogas A, Ashworth A, Gentry-Maharaj A, Jones M, Ramus S, Orr N, Menon U, Pearce C, Brüning T, Pike M, Ko Y, Lissowska J, Figueroa J, Kupryjanczyk J, Chanock S, Dansonka-Mieszkowska A, Jukkola-Vuorinen A, Rzepecka I, Pylkäs K, Bidzinski M, Kauppila S, Hollestelle A, Seynaeve C, Tollenaar R, Durda K, Jaworska K, Hartikainen J, Kosma V, Kataja V, Antonenkova N, Long J, Shrubsole M, Deming-Halverson S, Lophatananon A, Siriwanarangsan P, Stewart-Brown S, Ditsch N, Lichtner P, Schmutzler R, Ito H, Iwata H, Tajima K, Tseng C, Stram D, van den Berg D, Yip C, Ikram M, Teh Y, Cai H, Lu W, Signorello L, Cai Q, Noh D, Yoo K, Miao H, Iau P, Teo Y, McKay J, Shapiro C, Ademuyiwa F, Fountzilas G, Hsiung C, Yu J, Hou M, Healey C, Luccarini C, Peock S, Stoppa-Lyonnet D, Peterlongo P, Rebbeck T, Piedmonte M, Singer C, Friedman E, Thomassen M, Offit K, Hansen T, Neuhausen S, Szabo C, Blanco I, Garber J, Narod S, Weitzel J, Montagna M, Olah E, Godwin A, Yannoukakos D, Goldgar D, Caldes T, Imyanitov E, Tihomirova L, Arun B, Campbell I, Mensenkamp A, van Asperen C, van Roozendaal K, Meijers-Heijboer H, Collée J, Oosterwijk J, Hooning M, Rookus M, van der Luijt R, Os T, Evans D, Frost D, Fineberg E, Barwell J, Walker L, Kennedy M, Platte R, Davidson R, Ellis S, Cole T, Bressac-de Paillerets B, Buecher B, Damiola F, Faivre L, Frenay M, Sinilnikova O, Caron O, Giraud S, Mazoyer S, Bonadona V, Caux-Moncoutier V, Toloczko-Grabarek A, Gronwald J, Byrski T, Spurdle A, Bonanni B, Zaffaroni D, Giannini G, Bernard L, Dolcetti R, Manoukian S, Arnold N, Engel C, Deissler H, Rhiem K, Niederacher D, Plendl H, Sutter C, Wappenschmidt B, Borg Å, Melin B, Rantala J, Soller M, Nathanson K, Domchek S, Rodriguez G, Salani R, Kaulich D, Tea M, Paluch S, Laitman Y, Skytte A, Kruse T, Jensen U, Robson M, Gerdes A, Ejlertsen B, Foretova L, Savage S, Lester J, Soucy P, Kuchenbaecker K, Olswold C, Cunningham J, Slager S, Pankratz V, Dicks E, Lakhani S, Couch F, Hall P, Monteiro A, Gayther S, Pharoah P, Reddel R, Goode E, Greene M, Easton D, Berchuck A, Antoniou A, Chenevix-Trench G, Dunning A. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nature Genetics 2013, 45: 371-384. PMID: 23535731, PMCID: PMC3670748, DOI: 10.1038/ng.2566.Peer-Reviewed Original ResearchMeSH KeywordsAlternative SplicingBiomarkers, TumorBreast NeoplasmsCase-Control StudiesChromatinDNA MethylationFemaleGene Expression ProfilingGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLuciferasesOligonucleotide Array Sequence AnalysisOvarian NeoplasmsPolymorphism, Single NucleotideReal-Time Polymerase Chain ReactionReverse Transcriptase Polymerase Chain ReactionRisk FactorsRNA, MessengerTelomeraseTelomereConceptsMultiple independent variantsTelomere lengthTERT-CLPTM1L locusTERT locusFunctional studiesOvarian cancer susceptibilityOvarian cancer tissuesMean telomere lengthLociIndependent variantsCommon variantsCell linesCancer susceptibilityRisk of breastCancer tissuesOvarian cancerVariantsWhole bloodBreast
2011
Telomerase expression and telomere length in breast cancer and their associations with adjuvant treatment and disease outcome
Lu L, Zhang C, Zhu G, Irwin M, Risch H, Menato G, Mitidieri M, Katsaros D, Yu H. Telomerase expression and telomere length in breast cancer and their associations with adjuvant treatment and disease outcome. Breast Cancer Research 2011, 13: r56. PMID: 21645396, PMCID: PMC3218945, DOI: 10.1186/bcr2893.Peer-Reviewed Original ResearchConceptsEndocrine therapyDisease outcomeAdjuvant treatmentTelomerase expressionBetter survival outcomesDisease-free survivalHormone receptor statusBreast cancer patientsRisk of deathTelomere lengthHigh telomeraseCause-specific mortalityBreast cancer prognosisBreast cancer cellsCancer cell resistanceHigh telomerase expressionOverall survivalPatient ageDisease recurrenceReceptor statusHistological typeAggressive diseaseSurvival outcomesDisease stageCancer patients