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《HumGene2014_Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma》由会员上传分享，免费在线阅读，更多相关内容在学术论文-天天文库。
1、HumGenet(2014)133:1289–1297DOI10.1007/s00439-014-1463-zOrIGInalInvestIGatIOnCharacterizationofTgenesequencevariantsandgermlineduplicationsinfamilialandsporadicchordomaMichaelJ.Kelley·JianxinShi·BariBallew·PaulaL.Hyland·Wen‑QingLi·MelissaRotunno·DavidA.Alcorta·NorbertJ.Liebsch·Jaso
2、nMitchell·SaraBass·DavidRoberson·JosephBoland·MichaelCullen·JiHe·LaurieBurdette·MeredithYeager·StephenJ.Chanock·DilysM.Parry·AlisaM.Goldstein·XiaohongR.Yangreceived:24February2014/accepted:11June2014/Publishedonline:4July2014©springer-verlagBerlinHeidelberg(outsidetheUsa)2014Abstr
3、actChordomaisararebonecancerthatistheassociationbetweenthepreviouslyreportedvariantbelievedtooriginatefromnotochordalremnants.Wers2305089andriskoffamilial[oddsratio(Or)=2.6,previouslyidentifiedgermlineTduplicationasamajor95%confidenceinterval(CI)=0.93,7.25,P=0.067]susceptibilityme
4、chanisminseveralchordomafamilies.andsporadicchordoma(Or=2.85,95%CI=1.89,recently,acommongeneticvariantinT(rs2305089)4.29,P<0.0001).Wealsoidentifiedasecondcom-wassignificantlyassociatedwiththeriskofsporadicmonvariant,rs1056048,thatwasstronglyassociatedchordoma.WesequencedallTexonsi
5、n24familialcaseswithchordomainfamilies(Or=4.14,95%CI=1.43,and54unaffectedfamilymembersfromeightchordoma11.92,P=0.0086).amongsporadiccases,anothercom-families(threewithTduplications),103sporadiccases,monvariant(rs3816300)wassignificantlyassociatedand160unrelatedcontrols.Wealsomeasu
6、redTcopywithriskwhenjointlyanalyzedwithrs2305089.thenumbervariationinallsporadiccases.Weconfirmedassociationwithrs3816300wassignificantlystrongerincaseswithearlyageonset.Inaddition,weidentifiedthreerarevariantsthatwereonlyobservedamongspo-Electronicsupplementarymaterialtheonlineve
7、rsionofthisarticle(doi:10.1007/s00439-014-1463-z)containssupplementaryradicchordomacases,allofwhichhavepotentialfunc-material,whichisavailabletoauthorizedusers.tionalrelevancebasedoninsilicopredictions.Finally,wedidnotobserveTduplicationinanysporadicchor-M.J.Kelley·D.a.alcortadoma
8、case.Ourfindingsfurtherhighlightt
