Abstract 2206: Distinct somatic mutation patterns in multiple human cancers and their subtypes

We have systematic analyzed 4.5Mb of DNA representing 1507 genes in 450 human fresh frozen tumors covering four major human cancers and their subtypes for somatic mutations. For this analysis we used E. coli mismatch repair detection (MRD) for our primary mutation scans. All the identified variations were validated as somatic using nucleic acid mass spec and confirmed to be present in the original tumor and absent in the matched adjacent normal DNA. Of the all tumor samples analyzed ∼80% show somatic mutations in one or more genes studies. Of the genes analyzed we identified mutation in 842 genes. Applying statistical techniques and other measures we have identified 221 genes to be significantly mutated across all cancers studied. Further analysis of mutated genes by tumor types and subtypes revealed distinct patterns of significantly mutated genes. Besides the previously known mutated genes, we have identified several novel mutated genes with previously unknown role in cancers across the various cancer types studied. To further ascertain the relevance we have performed integrated analysis of mutation and copy number variations data from the samples studied and identified putative tumor supressors and oncogenes. Also, we have performed mutational analysis at the level of biological pathways and identified several mutated pathways. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 101st Annual Meeting of the American Association for Cancer Research; 2010 Apr 17-21; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2010;70(8 Suppl):Abstract nr 2206.