Screening For Bladder Cancer Mutation Model In Chinese Han Population

OBJECTIVE: 1.To investigate the effect of bladder cancer on the expression of bladder cancer in the bladder tissue of the Han population in China.2.To conclusion Non muscle invasive bladder cancer(NMIBC)and Muscle invasive bladder cancer(MIBC)mutant genes were screened out,and obtain mutant model of bladder cancer was established in Chinese Han population.Methods: 16 cases of fresh bladder tissue samples from NMIBC and MIBC patients were collected.Each patient had bladder cancer tissue and matched normal bladder mucosa tissue,about 5ug / min,placed at-80 cryopreserved refrigerator.The gene ?expression of 94 cases related to bladder cancer was detected by the next generation chase sequencing(NGS)technique,and the differences of gene expression were analyzed in different types of bladder cancer tissues.Results: In this study,we found that about 60.6%(57/94)of all the genes detected in 32 cases of bladder cancer showed mutations.The higher mutation rate was KMT2D(34.38%),FGFR3(31.25%),ARID1A(15.63 %),ATM(15.63%),AKT1(12.50%),DCHS2(12.50%),LRP1B(12.50%),STAG2(12.50%),EP300(9.38%),BRCA2(9.38%).The highest mutation rate in NMIBC was KMT2D(50.00%),FGFR3(50.00%),ARID1A(31.25%),ATM(18.75%)and STAG2(18.75%).The gene with high mutation rate in MIBC was KMT2D(18.75 %),CACNA1D(18.75%),CREBBP(18.75%),FGFR3(12.50%),CCND1(12.50%),LRRC7(12.50%),TP53(12.50%),OBSCN(12.50%).(18.75%);CREBBP(18.75%);CCND1(12.50%);LRRC7(12.50%),and the other four mutations were found in MIBC tissues,such as CACNA1D(18.75%);(6.25%);CHDBP2(12.50%);TP53(12.50%);VCAN(12.50%);APC(6.25%);ATR(6.25%);CCND3(6.25%);FOXQ1(6.25%);INADL(6.25%);PCDHA9(6.25%);PDZD2(6.25%);PPARG(6.25%);MDM2(6.25%);MSH2(6.25%);%);RICTOR(6.25%);RPTOR(6.25%);ZKSCAN3(6.25%).Conclusion: The mutation of NMIBC and MIBC was screened out for the first time in Chinese Han population.The first time in the Chinese Han population of bladder urothelial carcinoma in the detection of OBSCNL,LRRC7 OBSCNL?LRRC7?MYC,PCDHA9 gene mutation,but the relationship between these genes and bladder urothelial carcinoma need to be further verified.The mutation rate of M.BC was significantly higher than that of NMIBC.