Bernstein Inge T, Bülow Steffen
H:S Hvidovre Hospital, Gastroenheden 435, HNPCC-registret og Polyposeregistret, Hvidovre.
Ugeskr Laeger. 2005 Oct 31;167(44):4159-63.
HNPCC and FAP are inherited diseases with a lifetime risk of colorectal cancer (CRC) of 80-100% in gene carriers. Disease-causing mutations have been identified in the APC gene at FAP and in MMR genes at HNPCC. In FAP-patients, screening has reduced the prevalence of CRC by 55%, and the survival rate has improved considerably. For HNPCC-patients, 77% of CRCs found by screening were Duke' A or B, and survival after CRC has improved significantly since 1990. Continuous central registration in the HNPCC and Polyposis registers is recommended to ensure identification of high-risk families and evaluate the effect of screening.
遗传性非息肉病性结直肠癌（HNPCC）和家族性腺瘤性息肉病（FAP）是遗传性疾病，基因携带者患结直肠癌（CRC）的终生风险为80%-100%。已在FAP的APC基因和HNPCC的错配修复（MMR）基因中鉴定出致病突变。在FAP患者中，筛查使CRC的患病率降低了55%，生存率也有了显著提高。对于HNPCC患者，筛查发现的CRC中有77%为杜克A期或B期，自1990年以来，CRC后的生存率有了显著提高。建议在HNPCC和息肉病登记处进行持续的中央登记，以确保识别高危家族并评估筛查效果。
