Somatic mutations and single nucleotide polymorphisms of base excision repair genes involved in the repair of 8-hydroxyguanine in damaged DNA

To elucidate the involvement of 8-hydroxyguanine (oh(8)G) repair genes in h uman lung carcinogenesis, 47 lung cancer cell lines and 55 primary lung can cers were examined for somatic mutations and genetic polymorphisms in all c oding exons of the MYH and APEX genes, and exon 8 of the OGG1 gene by polym erase chain reaction-single strand conformation polymorphism analysis. In t he MYH gene, one missense mutation was detected in a cell line, NCI-H157, w hereas no mutations were detected in primary cancers. There were no mutatio ns in the APEX and OGG1 genes in the cell lines or primary cancers. Ten sin gle nucleotide polymorphisms (SNPs) were identified, and seven of them were accompanied by amino acid substitutions, Differences in the oh(8)G repair activities of MYH, APEX and OGG1 proteins due to somatic mutations and SNPs can be involved in human carcinogenesis. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.