GNAS Mutations Identify a Set of Right-Sided, RAS Mutant, Villous Colon Cancers

摘要: The purpose of this study is to determine the genetic frequency GNAS activating mutations in colorectal cancer and corresponding pathology mutant tumors. Oncogenic have been described a number neoplasms including those pituitary, kidney, pancreas, and, more recently, colon cancer. To ascertain we employed sensitive pyrosequencing platform for mutation detection R201C R201H hotspots tumor samples representing all clinical stages. We additionally assayed KRAS BRAF as previous reports shown that these often co-occur with mutations. Of 428 tumors assayed, were present 10 (2.3%), indicating significant, albeit infrequent, Nine (90%) harbored concomitant either or oncogene, which was significantly greater than genes population (56%, p<0.0305). All ten arose right (proximal) (p<0.007), 7 8 reviewed cases exhibited marked villous morphology. Taken together, data indicate commonly synchronous BRAF, are right-sided location, associated