2016
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus
Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, Beesley J, Ramus SJ, Li Q, Delgado MK, Lee JM, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Bandera EV, Barile M, Barkardottir RB, Barrowdale D, Beckmann MW, Benitez J, Berchuck A, Bisogna M, Bjorge L, Blomqvist C, Blot W, Bogdanova N, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Børresen-Dale AL, Brauch H, Brennan P, Brenner H, Bruinsma F, Brunet J, Buhari SA, Burwinkel B, Butzow R, Buys SS, Cai Q, Caldes T, Campbell I, Canniotto R, Chang-Claude J, Chiquette J, Choi JY, Claes KB, Cook L, Cox A, Cramer D, Cross S, Cybulski C, Czene K, Daly M, Damiola F, Dansonka-Mieszkowska A, Darabi H, Dennis J, Devilee P, Diez O, Doherty J, Domchek S, Dorfling C, Dörk T, Dumont M, Ehrencrona H, Ejlertsen B, Ellis S, Engel C, Lee E, Evans D, Fasching P, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foretova L, Fostira F, Foulkes W, Fridley B, Friedman E, Frost D, Gambino G, Ganz P, Garber J, García-Closas M, Gentry-Maharaj A, Ghoussaini M, Giles G, Glasspool R, Godwin A, Goldberg M, Goldgar D, González-Neira A, Goode E, Goodman M, Greene M, Gronwald J, Guénel P, Haiman C, Hall P, Hallberg E, Hamann U, Hansen T, Harrington P, Hartman M, Hassan N, Healey S, Heitz F, Herzog J, Høgdall E, Høgdall C, Hogervorst F, Hollestelle A, Hopper J, Hulick P, Huzarski T, Imyanitov E, Isaacs C, Ito H, Jakubowska A, Janavicius R, Jensen A, John E, Johnson N, Kabisch M, Kang D, Kapuscinski M, Karlan B, Khan S, Kiemeney L, Kjaer S, Knight J, Konstantopoulou I, Kosma V, Kristensen V, Kupryjanczyk J, Kwong A, de la Hoya M, Laitman Y, Lambrechts D, Le N, De Leeneer K, Lester J, Levine D, Li J, Lindblom A, Long J, Lophatananon A, Loud J, Lu K, Lubinski J, Mannermaa A, Manoukian S, Le Marchand L, Margolin S, Marme F, Massuger L, Matsuo K, Mazoyer S, McGuffog L, McLean C, McNeish I, Meindl A, Menon U, Mensenkamp A, Milne R, Montagna M, Moysich K, Muir K, Mulligan A, Nathanson K, Ness R, Neuhausen S, Nevanlinna H, Nord S, Nussbaum R, Odunsi K, Offit K, Olah E, Olopade O, Olson J, Olswold C, O’Malley D, Orlow I, Orr N, Osorio A, Park S, Pearce C, Pejovic T, Peterlongo P, Pfeiler G, Phelan C, Poole E, Pylkäs K, Radice P, Rantala J, Rashid M, Rennert G, Rhenius V, Rhiem K, Risch H, Rodriguez G, Rossing M, Rudolph A, Salvesen H, Sangrajrang S, Sawyer E, Schildkraut J, Schmidt M, Schmutzler R, Sellers T, Seynaeve C, Shah M, Shen C, Shu X, Sieh W, Singer C, Sinilnikova O, Slager S, Song H, Soucy P, Southey M, Stenmark-Askmalm M, Stoppa-Lyonnet D, Sutter C, Swerdlow A, Tchatchou S, Teixeira M, Teo S, Terry K, Terry M, Thomassen M, Tibiletti M, Tihomirova L, Tognazzo S, Toland A, Tomlinson I, Torres D, Truong T, Tseng C, Tung N, Tworoger S, Vachon C, van den Ouweland A, van Doorn H, van Rensburg E, Van't Veer L, Vanderstichele A, Vergote I, Vijai J, Wang Q, Wang-Gohrke S, Weitzel J, Wentzensen N, Whittemore A, Wildiers H, Winqvist R, Wu A, Yannoukakos D, Yoon S, Yu J, Zheng W, Zheng Y, Khanna K, Simard J, Monteiro A, French J, Couch F, Freedman M, Easton D, Dunning A, Pharoah P, Edwards S, Chenevix-Trench G, Antoniou A, Gayther S. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus. Nature Communications 2016, 7: 12675. PMID: 27601076, PMCID: PMC5023955, DOI: 10.1038/ncomms12675.Peer-Reviewed Original Research
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
2012
Functional study of risk loci of stem cell-associated gene lin-28B and associations with disease survival outcomes in epithelial ovarian cancer
Lu L, Katsaros D, Mayne ST, Risch HA, Benedetto C, Canuto EM, Yu H. Functional study of risk loci of stem cell-associated gene lin-28B and associations with disease survival outcomes in epithelial ovarian cancer. Carcinogenesis 2012, 33: 2119-2125. PMID: 22822098, DOI: 10.1093/carcin/bgs243.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overCarcinoma, Ovarian EpithelialCircular DichroismCohort StudiesFemaleFollow-Up StudiesHumansMiddle AgedNeoplasm StagingNeoplasms, Glandular and EpithelialNeoplastic Stem CellsNucleic Acid ConformationOvarian NeoplasmsPolymorphism, Single NucleotidePrognosisPromoter Regions, GeneticQuantitative Trait LociReal-Time Polymerase Chain ReactionReverse Transcriptase Polymerase Chain ReactionRisk FactorsRNA, MessengerRNA-Binding ProteinsSurvival RateConceptsSingle nucleotide polymorphismsOvarian cancerEpithelial ovarian cancer survivalCancer-related risk factorsEpithelial ovarian cancerOvarian cancer survivalOvarian cancer prognosisHigher mortality riskCell-associated markersPrimary EOC tissuesLin-28BStem cell-associated markersAssociation of genotypesDominant modelPatient survivalSurvival outcomesBorderline significanceEOC tissuesCancer survivalRisk factorsReal-time PCRMortality riskCancer prognosisMultivariate analysisPotential biomarkers