Houlston R S, Tomlinson I P
Section of Cancer Genetics, Institute of Cancer Research, Cotswold Road, Sutton, Surrey SM2 5NG, UK.
J Med Genet. 2000 Mar;37(3):161-7. doi: 10.1136/jmg.37.3.161.
The search for the genes responsible for many complex genetic diseases is well under way and has already been successful in some cases. The study of cancer as a complex genetic disease has lagged behind other conditions, largely because of particular problems that are associated with malignant disease. Cancer also, however, presents specific opportunities for gene identification, which are not found in many other diseases. While the methods of genetic mapping and gene cloning used for other complex diseases will be applied to cancer, these must almost certainly be complemented by other methods, such as the study of somatic mutations, cancer associated phenotypes, and modifier genes for Mendelian cancers. Here, we review the strategies available for identifying cancer predisposition genes of low and moderate penetrance.
对许多复杂遗传疾病相关基因的搜寻工作正在顺利进行，并且在某些情况下已经取得了成功。将癌症作为一种复杂遗传疾病进行的研究落后于其他疾病，这主要是由于与恶性疾病相关的一些特殊问题。然而，癌症也为基因识别提供了特定的机会，这在许多其他疾病中并不存在。虽然用于其他复杂疾病的基因定位和基因克隆方法将应用于癌症研究，但几乎可以肯定的是，这些方法必须辅以其他方法，如体细胞突变研究、癌症相关表型研究以及孟德尔式癌症的修饰基因研究。在此，我们综述了可用于识别低外显率和中等外显率癌症易感性基因的策略。
