[发明专利]一种用于检测乳腺癌基因突变的基因panel及其检测方法与应用

权利要求书

1.一种乳腺癌突变基因检测的基因panel，其特征在于，包括用于捕获靶向DNA的靶向DNA探针；

所述靶向DNA包括人类基因组上基因的外显子区域、微卫星不稳定性位点以及基因融合位置区间。

2.根据权利要求1所述的基因panel，其特征在于，所述靶向DNA探针是覆盖所对应基因全部外显子区域的全部探针组合；

优选地，所述靶向DNA包括人类基因组上下述445个基因的外显子区域中的一个或多个：ABCB1,ABCC2,ABCC4,ABCG2,ABL2,ACVR1,ACVR2A,AFF3,AFF4,AHR,AKT1,AKT2,AKT3,ALK,AMER1,APC,AR,ARAF,ARHGEF12,ARID1A,ARID1B,ARID2,ARID5B,ASXL1,ASXL2,ATM,ATP10B,ATP2B3,ATR,ATRX,AURKA,AXIN1,AXIN2,B2M,BAP1,BARD1,BCL10,BCL11A,BCL11B,BCL2,BCL2L1,BCL6,BCL9,BCL9L,BCOR,BCORL1,BCR,BIRC3,BLK,BLM,BMPR1A,BRAF,BRCA1,BRCA2,BRD4,BRIP1,BTG1,BUB1B,CACNA1D,CALR,CAMTA1,CARD11,CASP8,CBFB,CBL,CBLB,CBLC,CCND1,CCND2,CCND3,CCNE1,CD274,CD79A,CD79B,CDC73,CDH1,CDH11,CDK12,CDK4,CDK6,CDK7,CDK8,CDK9,CDKN1A,CDKN1B,CDKN2A,CDKN2C,CEBPA,CHD2,CHD4,CHEK1,CHEK2,CIC,CIITA,CLIP1,CLTC,COL1A1,CREBBP,CSF3R,CSMD1,CSMD3,CTCF,CTLA4,CTNNA1,CTNNA2,CTNNB1,CUL3,CUX1,CXCR4,CYLD,CYP19A1,CYP1B1,CYP2B6,CYP2C8,CYP2D6,CYP3A5,DAXX,DDB2,DDR2,DDX10,DDX3X,DHFR,DHX9,DICER1,DNMT1,DNMT3A,DNMT3B,DOT1L,DPP10,DPYD,DROSHA,EGFR,EIF3E,ELF3,EP300,EPAS1,EPHA2,EPHA3,EPHA5,EPHA7,EPHB1,ERBB2,ERBB3,ERBB4,ERC1,ERCC1,ERCC2,ERCC3,ERG,ESR1,ETV4,ETV5,ETV6,EWSR1,EXT1,EZH2,FAM135B,FANCA,FANCD2,FANCF,FAS,FAT1,FAT4,FBN2,FBXW7,FGF19,FGF3,FGF4,FGFR1,FGFR2,FGFR3,FGFR4,FH,FLCN,FLT3,FLT4,FOXA1,FOXL2,FOXO1,FUBP1,FUS,GALNT13,GATA1,GATA2,GATA3,GATA6,GLI1,GNA11,GNAQ,GNAS,GRIN2A,GSTP1,H3F3A,H3F3B,HIF1A,HIP1,HIST1H3B,HLA-A,HLA-B,HLA-C,HNF1A,HRAS,HSP90AA1,HSP90AB1,IDH1,IDH2,IGF2,IKBKB,IKZF1,IL21R,IL6ST,IL7R,IRF2,IRF4,IRS4,JAK1,JAK2,JAK3,KAT6A,KDM4A,KDM4B,KDM5C,KDM6A,KDR,KEAP1,KEL,KIF5B,KIT,KLF4,KMT2A,KMT2C,KMT2D,KRAS,LATS1,LATS2,LIFR,LRIG3,LRP1B,LRRC7,LZTR1,MALT1,MAP2K1,MAP2K4,MAP3K1,MAP3K13,MAPK1,MAX,MDM2,MDM4,MECOM,MED12,MEF2B,MEN1,MET,MGA,MLH1,MSH2,MSH6,MSI2,MSN,MTHFR,MTOR,MTR,MYC,MYCN,MYD88,MYH11,MYH2,MYH9,MYO5A,NBN,NCOA1,NCOA2,NCOR1,NCOR2,NF1,NF2,NFATC2,NFE2L2,NFKBIA,NIN,NKX2-1,NONO,NOTCH1,NOTCH2,NOTCH3,NOTCH4,NPM1,NQO1,NRAS,NRG1,NRXN1,NSD1,NSD2,NSD3,NTRK1,NTRK2,NTRK3,NUMA1,NUP214,OCA2,PALB2,PARP1,PAX3,PAX5,PAX8,PBRM1,PDCD1LG2,PDE4DIP,PDGFRA,PDGFRB,PIK3C2B,PIK3C2G,PIK3C3,PIK3CA,PIK3CB,PIK3R1,PIK3R2,PIM1,PLCG1,PMS2,POLD1,POLE,POLQ,PPM1D,PPP2R1A,PPP6C,PRDM1,PREX2,PRKAR1A,PRKCB,PRSS1,PSIP1,PTCH1,PTEN,PTPN11,PTPN13,PTPRB,PTPRD,PTPRK,PTPRS,PTPRT,QKI,RAC1,RAD21,RAD50,RAD51,RAD51B,RAD51C,RAD51D,RAD52,RAD54L,RAF1,RANBP2,RASA1,RB1,RBM10,RECQL4,RET,RHOA,RNF213,RNF43,RPTOR,RSPO2,RUNX1,RUNX1T1,RXRA,RYR2,SAGE1,SALL4,SDHA,SDHAF2,SETBP1,SETD2,SF3B1,SH2B3,SLC22A16,SMAD2,SMAD3,SMAD4,SMARCA4,SMARCB1,SMARCD1,SMARCE1,SMO,SOCS1,SOD2,SOS1,SOX9,SPEN,SPOP,SPTA1,SRSF2,STAG2,STAT3,STAT4,STAT5B,STAT6,STIL,STK11,STK19,STK40,SUZ12,TBL1XR1,TBX3,TCF7L2,TEC,TERT,TET1,TET2,TGFBR1,TGFBR2,TNFAIP3,TNFRSF14,TOP1,TP53,TP53BP1,TP63,TPMT,TRIM33,TRIP11,TRRAP,TSC1,TSC2,TSHR,TYMS,U2AF1,UBR5,UGT1A1,USP6,VEGFA,VHL,WAS,WEE1,WRN,WT1,XPC,XPO1,XRCC1,XRCC2,ZBTB16,ZFHX3,ZNF423,ZNF521,ZNRF3。