Burt R W, DiSario J A, Cannon-Albright L
Department of Medicine, University of Utah, Salt Lake City, USA.
Annu Rev Med. 1995;46:371-9. doi: 10.1146/annurev.med.46.1.371.
The genes that are mutated in two of the rare syndromes of hereditary colon cancer were recently identified, and genetic diagnosis is already possible in some cases. Acquired mutations of these same genes also appear to be important in sporadic colon cancers. Familial clustering of sporadic cases is common and may likewise arise from inherited susceptibility. Screening strategies for both the rare syndromes and the common cases of colon cancer with familial risk have been suggested. Certain clinical features allow stratification of colon cancer risk among common cases. It is anticipated that continued genetic investigation will result in more precise screening and improved diagnostic and therapeutic options for colon cancer.
最近发现了在两种罕见的遗传性结肠癌综合征中发生突变的基因，并且在某些情况下已经可以进行基因诊断。这些相同基因的获得性突变在散发性结肠癌中似乎也很重要。散发性病例的家族聚集很常见，也可能源于遗传易感性。已经提出了针对罕见综合征和具有家族风险的结肠癌常见病例的筛查策略。某些临床特征可对常见病例中的结肠癌风险进行分层。预计持续的基因研究将为结肠癌带来更精确的筛查以及改进的诊断和治疗选择。
