资源描述：
《Novel mutations target distinct subgroups of medulloblastoma》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、ARTICLEdoi:10.1038/nature11213Novelmutationstargetdistinctsubgroupsofmedulloblastoma1,2,31,41,21,51,41,5,6GilesRobinson*,MatthewParker*,TanyaA.Kranenburg*,CharlesLu,XiangChen,LiDing,1,21,41,4,71,21,21,21,4,8TimothyN.Phoenix,ErinHedlund,LeiWei,XiaoyanZhu,NaderChalhoub,Suzan
2、neJ.Baker,RobertHuether,1,81,21,21,91,41,41,5RichardKriwacki,NatashaCurley,RadhikaThiruvenkatam,JianminWang,GangWu,MichaelRusch,XinHong,1,91,91,71,41,41,101,10JaredBecksfort,PankajGupta,JingMa,JohnEaston,BhavinVadodaria,ArzuOnar-Thomas,TongLin,1,101,101,111,91,121,12Shaoyi
3、Li,StanleyPounds,StevenPaugh,DavidZhao,DaisukeKawauchi,MartineF.Roussel,1,41,71,131,141,151,16DavidFinkelstein,DavidW.Ellison,ChingC.Lau,EricBouffet,TimHassall,SridharanGururangan,1,171,5,61,5,61,5,61,5,61,3RichardCohn,RobertS.Fulton,LucindaL.Fulton,DavidJ.Dooling,KerriOch
4、oa,AmarGajjar,1,5,6,181,5,6,191,71,41,2,3ElaineR.Mardis,RichardK.Wilson,JamesR.Downing,JinghuiZhang&RichardJ.GilbertsonMedulloblastomaisamalignantchildhoodbraintumourcomprisingfourdiscretesubgroups.Here,toidentifymutationsthatdrivemedulloblastoma,wesequencedtheentiregenome
5、sof37tumoursandmatchednormalblood.One-hundredandthirty-sixgenesharbouringsomaticmutationsinthisdiscoverysetweresequencedinanadditional56medulloblastomas.Recurrentmutationsweredetectedin41genesnotyetimplicatedinmedulloblastoma;severaltargetdistinctcomponentsoftheepigeneticm
6、achineryindifferentdiseasesubgroups,suchasregulatorsofH3K27andH3K4trimethylationinsubgroups3and4(forexample,KDM6AandZMYM3),andCTNNB1-associatedchromatinre-modellersinWNT-subgrouptumours(forexample,SMARCA4andCREBBP).Modellingofmutationsinmouselowerrhombiclipprogenitorsthatg
7、enerateWNT-subgrouptumoursidentifiedgenesthatmaintainthiscelllineage(DDX3X),aswellasmutatedgenesthatinitiate(CDH1)orcooperate(PIK3CA)intumorigenesis.Thesedataprovideimportantnewinsightsintothepathogenesisofmedulloblastomasubgroupsandhighlighttargetsfortherapeuticdevelopmen
8、t.MedulloblastomaisthemostcommonmalignantchildhoodbrainThegenomiclandscapeofmedulloblasto
