乳腺癌基因分型的研究进展

19520105ChineseJournalofGeneralSurgeryVol.19No.5May.2010:2010-01-08;:2010-04-14:,,:E2mail:[e-mail]:1005-6947(2010)05-0556-041,21,1,1(1.,518036;2.,515041):,,5,LuminalA,LuminalB,ERBB2+,Basal2likenormalbreast2like[,2010,19(05):556-559]:;;;:R737.9:A,,(),,,,,10,,,,1,2000,PerouSorlie[1]6517,(),16,496,(intrinsicgenesubset),,ER(+)PerouSorlie[1-3](luminal)luminalAluminalBER(-)3:basal2like;c2erbB2ERBB2(+);normalbreast2like;5[4],22.1luminalA(A)(IHC):ER(+)PR(+),HER22(-):ER,GATA3(GATAbindingprotein3),X1(X2boxbindingprotein1),3(trefoilfactor3)[5],3(HNF3A),1(FOXA1),1(LIV21),SCUBE2[6],ESR1,ADH1B;survivin,ACOX1Ki267©1994-2011ChinaAcademicJournalElectronicPublishingHouse.Allrightsreserved.:2.2luminalB(B):ER(+)/PR(+),HER22(+),[7]luminalAER,GGH,LAPTMB4,NSEP1,CCNE1Ki267,ERBB2,SQLE[6]GRB7[7];CK8,CK18ADH1B[20]2.3basal2like():ER(-),PR(-),HER2(-),5/6(cytokera2tin5/6,CK5/6)(+),(epider2malgrowthfactorreceptor,EGFR)(+);(triplenegativebreastcarcinoma,TN2BC),ER,PR,HER2KRT5,KRT17,(an2nexin8),CX3CL1,TRIM29[6-7],PLK1,CCNA2,STK6MAPK13[7],CAV1[8],,p63,c2KIT,FOXC1P(P2Cadher2in),(laminin)[10-11]CK5/6,CK1,CK8,CK17,CK18;luminal/ER[9],bcl222.4ERBB2(+)(2):ER(-),PgR(-),HER22(+)17q22.24ERBB2,ERBB27(GRB7)TRAP100[9],PPARBP[6]PNMT2.5normalbreast2like(),[9],1(PIK3R1),1(AKR1C1),(FABP4),(PPArR)2A(FACL2)[6-9]3A,ER,,,ERPRERPR,,,ER,,,CALGB8541,9344,9741,ER2ER+Nguyen[10]793,A50.8%,,BA,ERBB2,(ER),(tamoxifen),CK8CK18,(AIs),(TAM),B,Guarneri[11]:107,HER22(+)/ER(-)36%,26%,B8%;B,ERBB2(+),HER22(FISH),HER22(+)FISH(+)IHC3(+),ER(+)50%,,,,HER22[11],,[2]Carey[12],HER22(+)(AC)luminal,70%,47%,HER22(+),5luminal,HER22(+)AC(TH)(DCH),,[13]2004HER22+,,BRCA1BRCA1755©1994-2011ChinaAcademicJournalElectronicPublishingHouse.Allrightsreserved.[14],BRCA1HER22,,,,,,Livin,LivinmRNA,Livin,caspase23,MCF27,;Livin[15],MAP,B(AKT),DNAbasal2like,,(),,,,[16],,[17],[18]Ihemelandu[19]372,,2.523.75Ihemelandu[21]37236,,,basal2like(P0.001),basal2like,basal2like5,7.1%[10]Carey[12]basal2like,(AC),basal2like,85%,27%,luminal(P0.0001),(),(ER,PR,HER22,),,,,,2170762,:[1]PerouCM,SorlieT,EisenMB,etal.Molecularportraitsofhumanbreasttumors[J].Nature,2000,406(6797):747-752.[2]SorlieT,PerouCM,TibshiraniR,etal.Geneexpressionpat2ternsofbreastcarcinomasdistinguishtumorsubclasseswithclinicalimplications[J].ProcNatlAcadSicUSA,2001,98(19):10869-10874.[3]SorlieT,PerouCM,TibshiraniR,etal.Repeatedobservationofbreasttumorsubstypesinindependentgeneexpressiondatasets[J].ProcNatlAcadSicUSA,2003,100(14):8418-8423.[4]RouzierR,PerouCM,SymmansWF,etal.Breastcancermolecularsubtypesresponddifferentlytopreoperativechemotherapy[J].ClinCancerRes,2005,11(16):5678-5685.[5]HuZ,FanC,OhDS,etal.Themolecularportraitsofbreasttumorsareconservedacrossmicroarrayplatforms[J].BMCGenomics,2006,7:96.[6]CalzaS,HallP,AuerG,etal.Intrinsicmolecularsignatureofbreastcancerinapopulation2basedcohortof412patients[J].BreastCancerRes,2006,8(4):R34.[7]WhitfieldML,SherlockG,SaldanhaAJ,etal.Identificationofgenesperiodicallyexpressedinthehumancellcycleandtheirexpressionintumors[J].MolBiolCell,2002,13(6):1977-2000.[8]Rodriguez2PinillaSM,HonradoE,HardissonD,etal.Cave2olin21expressionisassociatedwithabasal2likephenotypeinsporadicandhereditarybreastcancer[J].BreastCancerResTreat,2006,99(1):85-90.[9]SorlieT.Molecularportraitsofbreastcancer:tumoursubtypesasdistinctdiseaseentities[J].EurJCancer,2004,40(18):2667-2675.[10]NguyenPL,TaghianAG,KatzMS,etal.Breastcancersub2typeapproximatedbyestrogenreceptor,progesteronereceptor,andHER22isassociatedwithlocalanddistantrecurrenceaf2terbreast2conservingtherapy[J].JClinOncol,2008,26(14):2373-2378.[11]GuarneriV,BroglioK,KauSW,etal.Prognosticvalueofpathologiccompleteresponseafterprimarychemotherapyinre2lationtohormonereceptorstatusandotherfactors[J].JClinOncol,2006,24(7):1037-1044.855©1994-2011ChinaAcademicJournalElectronicPublishingHouse.Allrightsreserved.(2010)05-0559-05BRAF(,430030):BRAF,()BRAF,BRAF[,2010,19(05):559-563]:;;BRAF;;MAPK;:R736.1:A(TC)(PTC),(FTC),(ATC)(MTC),PTC[1]30,10/10030/10040/100;300%,PTC[2-5],,,,:(092V0215);(2008CB179):2010-01-26;:2010-04-12:,,:E2mail:[e-mail],Ret,BRAF,Neu,p53,Bcl22101988Shuntaro[6]NIH3T3DNA,ARAFCRAF,BRAF2002,Davies[7]530DNA,BRAF60%,BRAF1BRAF1.1BRAFBRAF([12]CareyLA,DeesEC,SawyerL,etal.Thetriplenegativepara2dox:primarytumorchemosensitivityofbreastcancersubtypes[J].ClinCancerRes,2007,13(8):2329-2334.[13]BragaS,DallagoL,BernardC,etal.Useoftrastuzumabforthetreatmentofearlystagebreastcancer[J].ExpertRevAnticancerTher,2006,6(8):1153-1164.[14]AbdEl2RehimDM,BallG,FinderSE,etal.High2through2putproteinexpressionanalysisusingtissuemicroarraytechnolo2gyofalargewellcharacterisedseriesidentifiesbiologicallydis2tinctclassesofbreastcancerconfirmingrecentcDNAexpres2sionanalyses[J].IntJCancer,2005,116(3):340-350.[15],,,.Livinc2erbB22[J].,2008,15(4):320-323.[16]Rodriguez2PinillaSM,SarrioD,HonradoE,etal.Prognosticsignificanceofbasal2likephenotypeandfascinexp