2019
Analysis of Heritability and Genetic Architecture of Pancreatic Cancer: A PanC4 Study
Chen F, Childs EJ, Mocci E, Bracci P, Gallinger S, Li D, Neale RE, Olson SH, Scelo G, Bamlet WR, Blackford AL, Borges M, Brennan P, Chaffee KG, Duggal P, Hassan MJ, Holly EA, Hung RJ, Goggins MG, Kurtz RC, Oberg AL, Orlow I, Yu H, Petersen GM, Risch H, Klein AP. Analysis of Heritability and Genetic Architecture of Pancreatic Cancer: A PanC4 Study. Cancer Epidemiology Biomarkers & Prevention 2019, 28: 1238-1245. PMID: 31015203, PMCID: PMC6606380, DOI: 10.1158/1055-9965.epi-18-1235.Peer-Reviewed Original ResearchConceptsGWAS dataOverall heritabilityGenome-wide association study dataTotal phenotypic variationAssociation study dataPancreatic cancer susceptibility genesTotal phenotypic varianceAnalysis of heritabilityGWAS lociGenetic architectureFunctional annotationCancer susceptibility genesPhenotypic variationLoci accountPhenotypic varianceLinkage disequilibriumSusceptibility genesHeritabilityCommon variantsIntronic variantsEuropean ancestryGenesRare variants
2016
Assessing the genetic architecture of epithelial ovarian cancer histological subtypes
Cuellar-Partida G, Lu Y, Dixon SC, Australian Ovarian Cancer Study, Fasching PA, Hein A, Burghaus S, Beckmann MW, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Vanderstichele A, Doherty JA, Rossing MA, Chang-Claude J, Rudolph A, Wang-Gohrke S, Goodman MT, Bogdanova N, Dörk T, Dürst M, Hillemanns P, Runnebaum IB, Antonenkova N, Butzow R, Leminen A, Nevanlinna H, Pelttari LM, Edwards RP, Kelley JL, Modugno F, Moysich KB, Ness RB, Cannioto R, Høgdall E, Høgdall C, Jensen A, Giles GG, Bruinsma F, Kjaer SK, Hildebrandt MA, Liang D, Lu KH, Wu X, Bisogna M, Dao F, Levine DA, Cramer DW, Terry KL, Tworoger SS, Stampfer M, Missmer S, Bjorge L, Salvesen HB, Kopperud RK, Bischof K, Aben KK, Kiemeney LA, Massuger LF, Brooks-Wilson A, Olson SH, McGuire V, Rothstein JH, Sieh W, Whittemore AS, Cook LS, Le ND, Blake Gilks C, Gronwald J, Jakubowska A, Lubiński J, Kluz T, Song H, Tyrer JP, Wentzensen N, Brinton L, Trabert B, Lissowska J, McLaughlin JR, Narod SA, Phelan C, Anton-Culver H, Ziogas A, Eccles D, Campbell I, Gayther SA, Gentry-Maharaj A, Menon U, Ramus SJ, Wu AH, Dansonka-Mieszkowska A, Kupryjanczyk J, Timorek A, Szafron L, Cunningham JM, Fridley BL, Winham SJ, Bandera EV, Poole EM, Morgan TK, Goode EL, Schildkraut JM, Pearce CL, Berchuck A, Pharoah PD, Webb PM, Chenevix-Trench G, Risch HA, MacGregor S. Assessing the genetic architecture of epithelial ovarian cancer histological subtypes. Human Genetics 2016, 135: 741-756. PMID: 27075448, PMCID: PMC4976079, DOI: 10.1007/s00439-016-1663-9.Peer-Reviewed Original ResearchConceptsGenetic architectureEpithelial ovarian cancerGenetic correlationsCross-trait LD-score regressionLD score regressionSignificant genetic correlationsGenetic variants confer susceptibilityChromosome sizeAssociated lociICOGS arrayHigh-grade serous diseaseTotal heritabilityGenetic backgroundScore regressionHigh-grade subtypesClear cell carcinomaGenetic overlapHeritabilityOvarian Cancer Association ConsortiumEOC subtypesEOC patientsHistological subtypesCell carcinomaCommon cancerSerous disease
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