GERMLINE AND SOMATIC MUTATIONS OF APC GENE AND THE GENOTYPE-PHENOTYPE ANALYSIS IN FAP AND SPORADIC COLORECTAL CANCERS

摘要：

Genomic DNA was extracted from peripheral blood lymphocytes of 22 FAP and from normal/tumor colorectal tissues of 43 sporadic colorectal cancers. APC gene was screened for germline and somatic mutations with systematic analysis techniques including DHPLC, PTT, MLPA and DNA sequencing. Germline APC mutations were identified in 13 of 22 FAP patients, and somatic mutations were found in 18 of 43 tumors of patients with sporadic colorectal cancers. One germline and nine somatic mutations found in this study was novel. The clinical features of FAP were related to the positions of germline mutations carried in APC gene. The ratio of tumors uncovered somatic APC mutations in the younger CRC patients was higher than that in the older patients. The sporadic colorectal cancer with a mutation between the codon 1020 and 1169 of APC gene had a higher frequency of tumor metastasis. Our results in this study indicate that the phenotype of some FAP and sporadic colorectal cancers may be predisposed by the genotype of APC gene that is involved in a genetic pathway in tumorigenesis.

关键词： FAP colorectal cancer (CRC) APC gene mutations genotype-phenotype

作者: Xiaorong Liu Xiangnian Shan Waltraut Friedl Siegfried Uhlhaas Peter Propping Yimei Fan Yaping Wang

作者单位: Laboratory of Medical Genetics, Medical School, Nanjing University, Nanjing 210093, China;Department Department of Genetics, Medical School, South East University, Nanjing 210009, China Institute of Human Genetics, University Hospital Bonn, D- 53111 Bonn, Germany Laboratory of Medical Genetics, Medical School, Nanjing University, Nanjing 210093, China

会议类型: 国际会议

会议名称: The 4th International Forum on Post-genome Technologies(4IFPT)(第四届国际后基因组生命科学技术学术论坛)

会议地点: 杭州

会议语种:英文

页码: 111-113

在线出版日期: 2006-09-25（万方平台首次上网日期，不代表论文的发表时间）