Two novel germline mutations of MLH1 and investigation of their pathobiology in hereditary non-polyposis colorectal cancer families in China

摘要: AIM: To detect germline mutations of MLH1, and investigate microsatellite instability expression MLH1 in tumor tissues hereditary non-polyposis colorectal cancer (HNPCC) with two novel mutations, further the pathobiology MLH1. METHODS: RNA was extracted from peripheral blood 12 patients different families that fulfilled Amsterdam Ⅱ Criteria for HNPCC. Germline were determined by RT-PCR, followed cDNA sequencing analysis. PCR-GeneScan analysis used to a panel five markers (BAT26, BAT25, D5S346, D2S123 mfd15), along immunohistochemical staining protein patients' mutations.