2024
Tert-expressing cells contribute to salivary gland homeostasis and tissue regeneration after radiation therapy
Guan L, Viswanathan V, Jiang Y, Vijayakumar S, Cao H, Zhao J, Colburg D, Neuhöfer P, Zhang Y, Wang J, Xu Y, Laseinde E, Hildebrand R, Rahman M, Frock R, Kong C, Beachy P, Artandi S, Le Q. Tert-expressing cells contribute to salivary gland homeostasis and tissue regeneration after radiation therapy. Genes & Development 2024, 38: 569-582. PMID: 38997156, PMCID: PMC11293384, DOI: 10.1101/gad.351577.124.Peer-Reviewed Original ResearchConceptsSubmandibular glandSalivary gland homeostasisProgenitor cellsGland homeostasisResponse to radiotherapyAdult submandibular glandCell survivalSalivary gland regenerationSelf-renewal capacityEnhanced proliferative activityRadiation therapyDuctal regionsRadiotherapyModulate cell survivalTelomerase-expressingGland regenerationProliferative activityMouse strainsTERT expressionCreERT2 recombinaseSalivary gland biologyRadiation exposureTERT locusIn vitro cultureCell populationsAbstract 5442: Terthighcells: key players in salivary gland homeostasis and regeneration after radiation therapy in adult mice
Guan L, Viswanathan V, V S, Cao H, Jiang Y, Zhao J, Colburg D, Neuhoefer P, Xu Y, Laseinde E, Artandi S, Le Q. Abstract 5442: Terthighcells: key players in salivary gland homeostasis and regeneration after radiation therapy in adult mice. Cancer Research 2024, 84: 5442-5442. DOI: 10.1158/1538-7445.am2024-5442.Peer-Reviewed Original ResearchSalivary gland homeostasisSubmandibular glandRadiation therapyGland homeostasisDuctal regionsAdult miceAmerican Association for Cancer Research annual meetingsProgenitor cellsAcinar cellsRadiation cell killingAdult submandibular glandCell survivalSelf-renewal capacityPost-radiotherapyPost-radiationModulate cell survivalStem/progenitor cellsNormal organsMouse strainsTERT expressionCell killingDuctal cellsOxidative stress response pathwayCreERT2 recombinaseTERT locus
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
Whole-Exome Sequencing Characterizes the Landscape of Somatic Mutations and Copy Number Alterations in Adrenocortical Carcinoma
Juhlin CC, Goh G, Healy JM, Fonseca AL, Scholl UI, Stenman A, Kunstman JW, Brown TC, Overton JD, Mane SM, Nelson-Williams C, Bäckdahl M, Suttorp AC, Haase M, Choi M, Schlessinger J, Rimm DL, Höög A, Prasad ML, Korah R, Larsson C, Lifton RP, Carling T. Whole-Exome Sequencing Characterizes the Landscape of Somatic Mutations and Copy Number Alterations in Adrenocortical Carcinoma. The Journal Of Clinical Endocrinology & Metabolism 2014, 100: e493-e502. PMID: 25490274, PMCID: PMC5393505, DOI: 10.1210/jc.2014-3282.Peer-Reviewed Original ResearchConceptsAdrenocortical carcinomaSomatic mutationsCopy number alterationsNumber alterationsNonsynonymous somatic mutationsWnt pathway dysregulationHomozygous deletionMajority of casesPotential disease-causing mutationsWhole-exome sequencingUnderlying somatic mutationsLethal malignancyPathway dysregulationTumorsExome sequencingFocal CNAsDisease-causing mutationsCarcinomaTERT locusZNRF3Recurrent CNAsAlterationsNormal samplesTP53Unknown role
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
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