Pathogenicity, functional significance and clinical phenotype of mismatch repair gene MSH2 variants found in cancer patients
作者： Saara Ollila
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摘要: 9 INTRODUCTION 11 REVIEW OF THE LITERATURE 13 Cancer genetics 14 Oncogenes and tumour suppressor genes Hereditary cancer 15 DNA maintenance 17 Origins of mutagenesis repair pathways Mismatch 22 MMR in Escherichia coli 23 eukaryotes 24 nonpolyposis colorectal 31 Genetics HNPCC Clinical characteristics patients 33 Muir-Torre syndrome 35 Nontruncating mutations Frequency nontruncating Functional analysis gene variants 36 AIMS PRESENT STUDY 39 MATERIALS AND METHODS 40 MSH2 associated families (I-IV) assays 43 Protein expression coimmunoprecipitation purification (III-IV) 45 46 Bandshift 49
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