Andrieu N, Clavel F, Demenais F
Unité de Recherche en Epidémiologie des Cancers, I.N.S.E.R.M. U287, Institut Gustave Roussy, France.
Int J Cancer. 1989 Sep 15;44(3):415-8. doi: 10.1002/ijc.2910440306.
The main results of segregation analysis aimed at identifying a major genetic factor involved in susceptibility to breast cancer are reviewed. They show that the existence of a single major gene is not sufficient to explain the distribution of the disease observed in the families concerned and suggest that the genetic inheritance involved is heterogeneous and complex. Heterogeneity has been explored in various studies according to epidemiological criteria. From these analyses, genetically homogeneous subgroups emerged (for instance families with breast cancer only or with affected males). The study of such homogeneous subgroups might help to better locate the susceptibility gene(s) on the chromosome map by analysis of genetic linkage using different markers. The results of segregation analysis depend on how epidemiological factors are taken into account. It is of major importance that epidemiological data on the proband (i.e., the individual prompting selection of a family) as well as on the members of his/her family are taken into consideration to improve understanding of the complexity of breast cancer transmission.
本文综述了旨在确定乳腺癌易感性主要遗传因素的分离分析主要结果。结果表明，单一主要基因的存在不足以解释相关家族中观察到的疾病分布，并提示所涉及的遗传遗传是异质性和复杂性的。根据流行病学标准，在各种研究中探讨了异质性。通过这些分析，出现了遗传同质亚组（例如仅患有乳腺癌或有患病男性的家族）。对这些同质亚组的研究可能有助于通过使用不同标记进行遗传连锁分析，更好地在染色体图谱上定位易感基因。分离分析的结果取决于如何考虑流行病学因素。考虑先证者（即促使选择一个家族的个体）及其家庭成员的流行病学数据对于增进对乳腺癌传播复杂性的理解至关重要。
