Novel somatic and germline mutations in cancer candidate genes in glioblastoma, melanoma, and pancreatic carcinoma

摘要: B167 A recent systematic sequence analysis of well-annotated human protein coding genes or consensus sequences led to the identification 189 displaying somatic mutations in breast and colorectal cancers. Based on their mutation prevalence, a subset these was identified as cancer candidate (CAN) they could be potentially involved cancer. We evaluated mutational profiles 19 CAN highly aggressive tumors: glioblastoma, melanoma, pancreatic carcinoma. Among other changes, we found novel EPHA3, MLL3, TECTA, FBXW7, OBSCN, affecting amino acids not previously mutated Interestingly, also germline nucleotide variant OBSCN that reported mutation. Our results identify specific genetic lesions cancers indicate are tumor specific. Some genes, such tyrosine kinase clearly amenable pharmacologic intervention represent therapeutic targets for incurable speculate similar oncogenes suppressor predisposition.