P4.04 Frequent Genetic Alteration in Transitional Cell Carcinoma of the Bladder by Large Scale Exome Sequencing

Abstract

ABSTRACT Bladder cancer is the ninth most common cancer worldwide, with TCC being the predominant form (90%). We completed an original research that investigated into 9 TCC exomes and target genes of additional TCCs, and discovered frequent aberrations of the chromatin remodeling genes. Six genes, including UTX, MLL/MLL3, CREBBP/EP300, NCOR1, ARID1A and CHD6, were identified in 59% of 97 TCC patients. For the purpose to obtain a more comprehensive genetic overview of TCC, we sequenced additional 92 TCCs with both exomes and genomes. For part of exome sequencing, we got an average coverage of 75.3x for targeted regions which encompassed 38 Mof Refseq census coding sequence, and >92% of the target bases were covered sufficiently for variant calling (≥10×); for another part of genome sequencing, 3.8x base coverage was averagely covered. Based on these integrated genomic data and combined with 9 original samples' data, we identified the somatic mutations and copy number variations (CNV). Totally, we detected 11143 non-sysnonymous point mutations, 1041 small Indels in coding regions (