2015
Characterization of Large Structural Genetic Mosaicism in Human Autosomes
Machiela MJ, Zhou W, Sampson JN, Dean MC, Jacobs KB, Black A, Brinton LA, Chang IS, Chen C, Chen C, Chen K, Cook LS, Bou M, De Vivo I, Doherty J, Friedenreich CM, Gaudet MM, Haiman CA, Hankinson SE, Hartge P, Henderson BE, Hong YC, Hosgood HD, Hsiung CA, Hu W, Hunter DJ, Jessop L, Kim HN, Kim YH, Kim YT, Klein R, Kraft P, Lan Q, Lin D, Liu J, Le Marchand L, Liang X, Lissowska J, Lu L, Magliocco AM, Matsuo K, Olson SH, Orlow I, Park JY, Pooler L, Prescott J, Rastogi R, Risch HA, Schumacher F, Seow A, Setiawan VW, Shen H, Sheng X, Shin MH, Shu XO, Berg D, Wang JC, Wentzensen N, Wong MP, Wu C, Wu T, Wu YL, Xia L, Yang HP, Yang PC, Zheng W, Zhou B, Abnet CC, Albanes D, Aldrich MC, Amos C, Amundadottir LT, Berndt SI, Blot WJ, Bock CH, Bracci PM, Burdett L, Buring JE, Butler MA, Carreón T, Chatterjee N, Chung CC, Cook MB, Cullen M, Davis FG, Ding T, Duell EJ, Epstein CG, Fan JH, Figueroa JD, Fraumeni JF, Freedman ND, Fuchs CS, Gao YT, Gapstur SM, Patiño-Garcia A, Garcia-Closas M, Gaziano JM, Giles GG, Gillanders EM, Giovannucci EL, Goldin L, Goldstein AM, Greene MH, Hallmans G, Harris CC, Henriksson R, Holly EA, Hoover RN, Hu N, Hutchinson A, Jenab M, Johansen C, Khaw KT, Koh WP, Kolonel LN, Kooperberg C, Krogh V, Kurtz RC, LaCroix A, Landgren A, Landi MT, Li D, Liao LM, Malats N, McGlynn KA, McNeill LH, McWilliams RR, Melin BS, Mirabello L, Peplonska B, Peters U, Petersen GM, Prokunina-Olsson L, Purdue M, Qiao YL, Rabe KG, Rajaraman P, Real FX, Riboli E, Rodríguez-Santiago B, Rothman N, Ruder AM, Savage SA, Schwartz AG, Schwartz KL, Sesso HD, Severi G, Silverman DT, Spitz MR, Stevens VL, Stolzenberg-Solomon R, Stram D, Tang ZZ, Taylor PR, Teras LR, Tobias GS, Viswanathan K, Wacholder S, Wang Z, Weinstein SJ, Wheeler W, White E, Wiencke JK, Wolpin BM, Wu X, Wunder JS, Yu K, Zanetti KA, Zeleniuch-Jacquotte A, Ziegler RG, de Andrade M, Barnes KC, Beaty TH, Bierut LJ, Desch KC, Doheny KF, Feenstra B, Ginsburg D, Heit JA, Kang JH, Laurie CA, Li JZ, Lowe WL, Marazita ML, Melbye M, Mirel DB, Murray JC, Nelson SC, Pasquale LR, Rice K, Wiggs JL, Wise A, Tucker M, Pérez-Jurado LA, Laurie CC, Caporaso NE, Yeager M, Chanock SJ. Characterization of Large Structural Genetic Mosaicism in Human Autosomes. American Journal Of Human Genetics 2015, 96: 487-497. PMID: 25748358, PMCID: PMC4375431, DOI: 10.1016/j.ajhg.2015.01.011.Peer-Reviewed Original ResearchConceptsGenetic mosaicismGenome-wide association study dataLarge structural eventsAssociation study dataHuman autosomesGenotyped individualsAutosomal mosaicismMosaicismStructural eventsMosaic cellsUnique abilityAfrican ancestryFraction of individualsCombined resultsAutosomesComplex changesGenomeAncestryCellsLarge combined sampleAutosomal abnormalitiesMB
2013
Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer
Shen H, Fridley BL, Song H, Lawrenson K, Cunningham JM, Ramus SJ, Cicek MS, Tyrer J, Stram D, Larson MC, Köbel M, Ziogas A, Zheng W, Yang H, Wu A, Wozniak E, Ling Woo Y, Winterhoff B, Wik E, Whittemore A, Wentzensen N, Palmieri Weber R, Vitonis A, Vincent D, Vierkant R, Vergote I, Van Den Berg D, Van Altena A, Tworoger S, Thompson P, Tessier D, Terry K, Teo S, Templeman C, Stram D, Southey M, Sieh W, Siddiqui N, Shvetsov Y, Shu X, Shridhar V, Wang-Gohrke S, Severi G, Schwaab I, Salvesen H, Rzepecka I, Runnebaum I, Anne Rossing M, Rodriguez-Rodriguez L, Risch H, Renner S, Poole E, Pike M, Phelan C, Pelttari L, Pejovic T, Paul J, Orlow I, Zawiah Omar S, Olson S, Odunsi K, Nickels S, Nevanlinna H, Ness R, Narod S, Nakanishi T, Moysich K, Monteiro A, Moes-Sosnowska J, Modugno F, Menon U, McLaughlin J, McGuire V, Matsuo K, Mat Adenan N, Massuger L, Lurie G, Lundvall L, Lubiński J, Lissowska J, Levine D, Leminen A, Lee A, Le N, Lambrechts S, Lambrechts D, Kupryjanczyk J, Krakstad C, Konecny G, Krüger Kjaer S, Kiemeney L, Kelemen L, Keeney G, Karlan B, Karevan R, Kalli K, Kajiyama H, Ji B, Jensen A, Jakubowska A, Iversen E, Hosono S, Høgdall C, Høgdall E, Hoatlin M, Hillemanns P, Heitz F, Hein R, Harter P, Halle M, Hall P, Gronwald J, Gore M, Goodman M, Giles G, Gentry-Maharaj A, Garcia-Closas M, Flanagan J, Fasching P, Ekici A, Edwards R, Eccles D, Easton D, Dürst M, du Bois A, Dörk T, Doherty J, Despierre E, Dansonka-Mieszkowska A, Cybulski C, Cramer D, Cook L, Chen X, Charbonneau B, Chang-Claude J, Campbell I, Butzow R, Bunker C, Brueggmann D, Brown R, Brooks-Wilson A, Brinton L, Bogdanova N, Block M, Benjamin E, Beesley J, Beckmann M, Bandera E, Baglietto L, Bacot F, Armasu S, Antonenkova N, Anton-Culver H, Aben K, Liang D, Wu X, Lu K, Hildebrandt M, Schildkraut J, Sellers T, Huntsman D, Berchuck A, Chenevix-Trench G, Gayther S, Pharoah P, Laird P, Goode E, Leigh Pearce C. Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer. Nature Communications 2013, 4: 1628. PMID: 23535649, PMCID: PMC3848248, DOI: 10.1038/ncomms2629.Peer-Reviewed Original ResearchConceptsDNA methylationAnalyse DNA methylationClear cell epithelial ovarian cancerSingle nucleotide polymorphismsEpigenetic analysisExpression patternsExpression profilesDifferent single nucleotide polymorphismsCpG island methylator phenotypeSusceptibility genesMethylationDistinct mechanismsGenesMethylator phenotypeHNF1BOvarian cancerRisk allelesSerous epithelial ovarian cancerEpithelial ovarian cancerAssociatesEpithelial ovarian cancer riskGenomePromoterPhenotypeAlleles