Sunde Lone E M, Bülow Steffen, Bernstein Inge T
Arhus Universitetshospital, Arhus Sygehus, Klinisk Genetisk Afdeling, Onkogenetisk Klinik, DK-8000 Arhus C.
Ugeskr Laeger. 2006 Jun 12;168(24):2369-73.
The most frequent monogenic predisposition to CRC is hereditary non-polyposis colorectal cancer (HNPCC). Less frequent are syndromes with polyposis. In some families the occurrence of CRC indicates a familial risk of CRC without the diagnostic criteria for the above syndromes being fulfilled. In families where causative mutations are identified, predictive genetic testing is offered. When no mutation is identified in a family, the risk of individual members of the family is evaluated according to the family history. Individuals with a high risk of CRC are offered surveillance.
结直肠癌最常见的单基因易感性是遗传性非息肉病性结直肠癌(HNPCC)。息肉病综合征则较为少见。在一些家族中,结直肠癌的发生表明存在结直肠癌的家族风险,但未满足上述综合征的诊断标准。在已确定致病突变的家族中,会提供预测性基因检测。当一个家族中未发现突变时,会根据家族病史评估家族中个体成员的风险。对结直肠癌高风险个体进行监测。