INCIDENCE AND MOLECULAR SCREENING FOR HEREDITARY CANCER

描述：广泛的、长期的目标是减少HNPCC综合征中肿瘤引起的发病率和死亡率。第一个任务是确定HNPCC的自然病史(例如年龄相关性风险、受影响器官的谱系、临床行为)以及预测性测试在临床筛查和预防措施中的作用。他可以通过确定谁是携带者，谁不是81个先前诊断的HNPCC家庭中多达288名受影响的高危成员和1169名未受影响的高危成员来完成他的任务。HNPCC的频率将通过研究芬兰切除的四分之一的结直肠癌和腺瘤来确定。将对这些进行筛查，以确定复制错误(RER)现象，该现象指示HNPCC，但不是HNPCC特有的。患有RER阳性肿瘤的个人将接受HNPCC突变筛查。这项研究每年将包括大约2500名个体。由于几乎没有处理有关个人对常见的成人发病癌症易感性的数据的既定程序，因此将通过反复的个人咨询和评估以及试图告知医疗专业、教育公众和向立法者提供专业知识的方式，研究这项预测测试实验的伦理和社会方面的问题。

DESCRIPTION: The broad, long-term objective is to reduce morbidity and mortality caused by tumors occurring in the HNPCC syndrome. The first task is to define the natural history of HNPCC (e.g. age-dependent risk, spectrum of affected organs, clinical behavior) and the effect of predictive testing on clinical screening and preventive measures. his can be done by determining who is a carrier and who is not among as many as 288 affected and 1169 unaffected at-risk members of 81 previously diagnosed HNPCC families. The frequency of HNPCC will be determined by studying one-fourth of all colorectal carcinomas and adenomas removed in Finland. These will be screened for the replication error (RER) phenomenon that is indicative of, but not specific for, HNPCC. Individuals with RER-positive tumors will be screened for HNPCC mutations. This study will comprise some 2500 individuals annually. As there are almost no established procedures for the handling of data regarding individual susceptibility to a common, adult-onset cancer, the ethical and social aspects of this experiment in predictive testing will be researched by means of repeated individual counseling and evaluation, as well as by attempting to inform the medical profession, to educate the public, and to provide expertise to lawmakers.