Review Article

The mutational signatures and molecular alterations of bladder cancer

Young Seok Ju


All cancers are transformed from normal cells as a result of somatic alterations in the genomes. During the last few years, many research groups, including the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), have conducted large-scale cancer genome studies worldwide. These efforts identified millions of somatic mutations accumulated in cancer cells, including point mutations, copy number variations and chromosomal rearrangements, as well as gene expression profiles and genome-wide DNA methylation patterns. These datasets accelerated our understanding of many biological processes operative in cancers. Genomes of bladder cancer, one of the most common cancers worldwide, were recently analyzed by several groups, which provide a comprehensive landscape of molecular alterations. This review article discusses the patterns of somatic mutations, mutational signatures, frequently altered genes and molecular pathways in bladder cancers.

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