Bale S J, Chakravarti A, Strong L C
Genet Epidemiol. 1984;1(1):53-61. doi: 10.1002/gepi.1370010108.
Although only a small proportion of common cancers show familial aggregation, studying such families can elucidate the roles of shared environment and genes in the development of neoplasia. We report an analysis of nine colon cancer pedigrees using new nonparametric objective methods to measure familial aggregation as a means of determining the existence of heterogeneity in the data. Each family was selected through a proband with nonpolyposis colon cancer who had a first-degree relative with documented colon cancer. To assess the aggregation of different cancers in these families we employ a method which evaluates both excess number of cases as well as distribution by risk in family members. We find that eight of the nine families exhibit significant aggregation of colon cancer: endometrial cancer aggregates in three families, breast in none, kidney in one, and all sites in eight. In this way, we show that two families fit the criteria for Cancer Family Syndrome, and that one is not a high-risk cancer family.
虽然只有一小部分常见癌症显示出家族聚集性，但研究这些家族可以阐明共享环境和基因在肿瘤形成中的作用。我们报告了对九个结肠癌家系的分析，使用新的非参数客观方法来测量家族聚集性，以此作为确定数据中是否存在异质性的一种手段。每个家系都是通过一名患有非息肉病性结肠癌的先证者挑选出来的，该先证者有一名记录在案的患结肠癌的一级亲属。为了评估这些家族中不同癌症的聚集性，我们采用了一种方法，该方法既评估病例的超额数量，也评估家庭成员中的风险分布。我们发现九个家族中有八个显示出结肠癌的显著聚集性：三个家族中子宫内膜癌聚集，乳腺癌在任何家族中都无聚集，一个家族中肾癌聚集，八个家族中所有部位的癌症都有聚集。通过这种方式，我们表明有两个家族符合癌症家族综合征的标准，而有一个家族不是高危癌症家族。
