Takebe H
Department of Radiation Genetics, Faculty of Medicine, Kyoto University.
Nihon Rinsho. 1995 Nov;53(11):2634-9.
Hereditary cancers have been shown to develop through at least two mechanisms. Development of retinoblastoma and Wilms' tumor is usually not accompanied by other hereditary symptoms. Although they are inherited autosomal dominantly, gene mutations in recessive tumor suppressor genes were found to be responsible for these tumors. The other mechanism is the enhanced mutation in the cancer-prone hereditary diseases, such as xeroderma pigmentosum, Bloom's syndrome, etc. In xeroderma pigmentosum, for example, defects in DNA repair has been shown to enhance the frequency of mutation in the oncogenes and tumor suppressor genes. Recently, another repair-related mechanism, involving the mismatch repair, was found to be involved in the hereditary nonpolyposis colon cancer.
遗传性癌症已被证明至少通过两种机制发展。视网膜母细胞瘤和肾母细胞瘤的发生通常不伴有其他遗传症状。尽管它们是常染色体显性遗传，但发现隐性肿瘤抑制基因中的基因突变是这些肿瘤的病因。另一种机制是在易患癌症的遗传性疾病中突变增强，如着色性干皮病、布卢姆综合征等。例如，在着色性干皮病中，DNA修复缺陷已被证明会增加癌基因和肿瘤抑制基因突变的频率。最近，发现另一种与修复相关的机制，即错配修复，与遗传性非息肉病性结直肠癌有关。
