Belev N F, Gar'kavtseva R F, Samotyia E E, Trubnikov V I, Gindilis V M
Genetika. 1986 Sep;22(9):2347-54.
The data on clinico-genealogic studies of colon cancer are presented. 694 families were examined with 432 probands having rectal and 262 colonic carcinoma among them. Clear family accumulation of colon cancer (2.4 +/- 0.35%) as well as other malignant tumors (6.8 +/- 0.6%) (p less than 0.01) was shown among the relatives of the first degree of relation. The values of segregation rates obtained for clinical forms of colon cancer were lower than theoretically expected for simple monogenic types of inheritance. The analysis of incomplete penetration of genotypes showed that, though formally the inheritance of colon cancer and its clinico-anatomical forms may be described by quasi-dominant types of inheritance, the penetration values are very low: from 4.3 to 13.3% for homozygotes and from 2.1 to 6.6% for heterozygotes. It shows that the supposition about the monogenic types of the colon cancer inheritance is doubtful and suggests that the colon cancer is to be regarded on the basis of the multifactorial model.
本文呈现了结肠癌临床系谱研究的数据。共检查了694个家庭，其中先证者有432例直肠癌和262例结肠癌。在一级亲属中显示出结肠癌（2.4±0.35%）以及其他恶性肿瘤（6.8±0.6%）（p＜0.01）明显的家族聚集性。结肠癌临床类型的分离率值低于单基因简单遗传类型理论上预期的值。对基因型不完全外显的分析表明，虽然从形式上看结肠癌及其临床解剖类型的遗传可用准显性遗传类型来描述，但外显率值非常低：纯合子为4.3%至13.3%，杂合子为2.1%至6.6%。这表明关于结肠癌单基因遗传类型的假设值得怀疑，并提示应基于多因素模型来考虑结肠癌。
