云南省7个Lynch综合征家系中致癌基因突变研究
DOI: 10.3971/j.issn.1000-8578.2015.04.016
Keywords: Lynch综合征,遗传性非息肉性结直肠癌,DNA错配修复基因,APC基因,Relationship Between FoxQ1 and Epidermal Growth Factor Receptor Gene Expression in Colorectal Cancer,Comparison of Efficacy and Prognosis of Oxaliplatin-based Regimens and FOLFIRI Regimen as First-line Chemotherapy for Stage Ⅳ Colorectal Cancer Patients with Different K-ras Statuses,Preventive Effect of n-3 Polyunsaturated Fatty Acids Intragastric Administration on Rats Colorectal Cancer,Effects of miR-16 on Cell Proliferation of Colorectal Cancer Cells,Methylation of Tumor Suppressor Gene TIP30 in Promoter Region for Colorectal Cancer Diagnosis and Prognosis,Effect of Embelin on Cell Growth and Apoptosis of Colorectal Cancer Cell Line SW480,Relationship between Adiponectin Receptors Expression and Colorectal Cancer Stage and Grade,Relationship of VEGF,MVD and LN with Micrometastasis in Colorectal Carcinoma,Expression and Clinical Significance of BAG-1 in Human Colorectal Carcinomas,Expression and Clinical Significance of usp22 and ki67 in Colorectal Carcinoma,Effect of TIP30 on Biological Characters of HCT116 Cells,ATP Bioluminescence Technical Guides Intra-peritoneal Chemotherapy in Patients with Colorectal Cancer,Anticancer Activities and Effects of Bufalin on Apoptosis-regulate Gene Bcl-xL,Bax in Orthotopic Transplantation Model of Human Colorectal Cancer in Nude Mice,Expression of PTTG in Normal Mucosa, Adenoma and Colorectal Carcinoma
Abstract:
摘要 目的 探讨云南省7个Lynch综合征（Lynch syndrome，LS）家系中常见致病基因突变情况。方法 选取昆明医科大学第一附属医院肿瘤科2008年3月—2013年12月收治的7个经过免疫组织化学检测和微卫星不稳定检测确定为MSI-H和dMMR的家系先证者，并且这7个家系都符合AmsterdamⅡ诊断标准。采用目标区域捕获结合高深度测序技术，对家系首发患者的遗传性结直肠癌相关5个基因外显子及其邻近±2 bp内含子区变异进行分析。结果 7个家系（2个白族家系、2个彝族家系、3个汉族家系）中，2个白族家系和2个彝族家系均未发现已知突变位点。结论 Lynch综合征家系致病突变可能存在民族差异
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