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
Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci
Coetzee S, Shen H, Hazelett D, Lawrenson K, Kuchenbaecker K, Tyrer J, Rhie S, Levanon K, Karst A, Drapkin R, Ramus S, Consortium T, Couch F, Offit K, Chenevix-Trench G, Monteiro A, Antoniou A, Freedman M, Coetzee G, Pharoah P, Noushmehr H, Gayther S, Consortium T, Tyrer J, 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, 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, Kjaer S, Kelemen L, Kellar M, Kelley J, Kiemeney L, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le N, 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, 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, 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, Tyrer J, 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. Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci. Human Molecular Genetics 2015, 24: 3595-3607. PMID: 25804953, PMCID: PMC4459387, DOI: 10.1093/hmg/ddv101.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsCell typesOvarian cancer susceptibility lociSusceptibility lociFunctional targetSusceptibility variantsComplex trait geneticsRegulatory DNA elementsMost single nucleotide polymorphismsEpithelial cellsHigh-grade serous ovarian cancerHuman mammary epithelial cellsCancer susceptibility lociRisk single nucleotide polymorphismsMammary epithelial cellsNormal human mammary epithelial cellsRisk-associated single nucleotide polymorphismsDifferent cell typesOvarian surface epithelial cellsWide annotationPrecursor cell typesOpen chromatinRegulatory variationGenetic susceptibility variantsHistone modifications
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