Exome and whole genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity

ABSTRACT: The incidence of esophageal adenocarcinoma (EAC) has risen 600% over the last 30 years. With an extremely poor five-year survival rate of only 15%, identification of new therapeutic targets for EAC is of great importance. Here, we analyze the mutation spectra from the whole exome sequencing of 149 EAC tumors/normal pairs, 15 of which have also been subjected to whole genome sequencing. We identify a novel mutational signature in EACs defined by a high prevalence of A to C transversions at Ap*A dinucleotides. Statistical analysis of the exome data identified 26 genes that are mutated at a significant frequency. Of these 26 genes, only four (TP53, CDKN2A, SMAD4, and PIK3CA) have been previously implicated in EAC. The novel significantly mutated genes include several chromatin modifying fact

ORGANISM(S): Homo sapiens

SUBMITTER: Shouyong Peng 

PROVIDER: E-GEOD-42363 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress