INCIDENCE AND MOLECULAR SCREENING FOR HEREDITARY CANCER

描述：广泛的，长期的目标是减少发病率和死亡率所造成的肿瘤发生在HNPCC综合征。第一项任务是确定HNPCC的自然史（例如年龄依赖性风险、受影响器官谱、临床行为）以及预测性检测对临床筛查和预防措施的影响。这可以通过确定谁是携带者，谁不是81个先前诊断的HNPCC家族中多达288个受影响和1169个未受影响的高危成员中的携带者来完成。HNPCC的发生率将通过研究芬兰切除的所有结直肠癌和腺瘤的四分之一来确定。将对这些样本进行复制错误（RER）现象筛查，该现象指示但不特异于HNPCC。 将对具有RER阳性肿瘤的个体进行HNPCC突变筛查。 这项研究将包括每年约2500人。由于几乎没有既定的程序来处理有关个人对常见的成人发病癌症的易感性的数据，因此将通过反复的个人咨询和评估，以及试图告知医学界，教育公众，并为立法者提供专业知识，来研究预测性测试实验的伦理和社会方面。

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.