Petersen G M
Department of Epidemiology, Johns Hopkins School of Hygiene and Public Health, Baltimore, Maryland, USA.
Eur J Cancer. 1995 Jul-Aug;31A(7-8):1047-50. doi: 10.1016/0959-8049(95)00156-d.
Genetic epidemiological methods have played an integral role in the characterisation of the genetic susceptibilities to colorectal cancer. Classic epidemiological approaches, such as case-control and prospective cohort studies, that utilise family history information have laid the foundation for the more specialised family-based genetic methods, segregation analysis and linkage analysis. The genetic epidemiology of colorectal cancer can be characterised by several themes: the consistently increased risk of colorectal cancer in first-degree relatives of patients with colorectal cancer; genetic predisposition to some, if not the majority of colorectal neoplasms; and genetic heterogeneity of the inherited colorectal cancer syndromes. With the rapid development of molecular genetic techniques, new opportunities for further research include studies to estimate the proportion of colorectal cancer that is accounted for by genetic susceptibility, the number of loci that may be involved, and most importantly, gene-environment interaction studies, not only of the inherited syndromes, but of common colorectal cancer.
遗传流行病学方法在结直肠癌遗传易感性的特征描述中发挥了不可或缺的作用。经典的流行病学方法，如病例对照研究和前瞻性队列研究，利用家族史信息为更专门的基于家族的遗传方法——分离分析和连锁分析奠定了基础。结直肠癌的遗传流行病学可通过几个主题来描述：结直肠癌患者的一级亲属患结直肠癌的风险持续增加；部分（即便不是大多数）结直肠肿瘤存在遗传易感性；遗传性结直肠癌综合征存在遗传异质性。随着分子遗传技术的迅速发展，进一步研究的新机会包括估计遗传易感性在结直肠癌中所占比例的研究、可能涉及的基因座数量的研究，以及最重要的基因 - 环境相互作用研究，不仅是针对遗传性综合征，还包括常见的结直肠癌。
