Therkildsen Christina, Timshel Susanne, Nilbert Mef
Klinisk Forskningscenter 136, Hvidovre Hospital, DK-2650 Hvidovre.
Ugeskr Laeger. 2008 Jun 16;170(25):2252-5.
The Danish Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Register is a national resource that registers families with hereditary colorectal cancer. HNPCC is the most common type of hereditary colorectal cancer and carries an increased risk of other tumor types. Genetic diagnostics has identified 88 unique mutations in 164 Danish families delineated as Lynch syndrome families. Predictive genetic diagnostics enables the identification of high risk individuals, who are offered participation in surveillance programmes that effectively reduce morbidity and mortality in colorectal cancer.
丹麦遗传性非息肉病性结直肠癌(HNPCC)登记处是一个登记遗传性结直肠癌家族的国家资源库。HNPCC是遗传性结直肠癌最常见的类型,患其他肿瘤类型的风险也会增加。基因诊断已在164个被划定为林奇综合征家族的丹麦家族中发现了88种独特的突变。预测性基因诊断能够识别高危个体,这些个体可参与有效降低结直肠癌发病率和死亡率的监测项目。