Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer


The article Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer has been published in Clinical Cancer Research journal. The main author is Rebeca Sanz, from  Cancer Prevention and Control Program at ICO.

The main objective of the study was to characterize the colonomicst tumors at mutational level, by exome sequencing. After analyzing the results, one of the conclusions was that tumors exhibited a high mutational heterogeneity. Indeed, only few mutations were shared by two or more tumors. That is, each tumor had its own mutational profile. However, truncating mutations in the gene AMER1 were found in about 10% of the analyzed tumors. This finding was validated both in silico and in vitro in more than 500 tumors, confirming the result and leading us to propose AMER1 as a putative tumor suppressor gene in colon cancer. Furthermore, we found a small percentage of tumors losing AMER1 by other molecular mechanisms such as methylation and copy number changes. Finally, using gene expression data, we observed that tumors losing AMER1 were characterized by an inhibition of Wnt pathway, and also exhibited a mesenchymal phenotype.

No Comment

Comments are closed.