The sequencing of the genomes from esophageal adenocarcinoma (EAC), a common subtype of throat cancer, is published this week in Nature Genetics.
Adam Bass and colleagues report the sequencing of the coding regions of 149 EAC tumors and matched normal tissues, as well as the whole genomes of 15 of these pairs. They identify 26 genes significantly mutated in EAC, and note frequent mutations in genes encoding regulators of cellular invasion and motility. They identify mutations in genes encoding therapeutic targets of inhibitors that are in either preclinical development or clinical use in 23% of tumors. They further identify signaling pathways, including activation of the RAC1 pathway, implicated in the development of EAC.