Cox L A, Chen G, Lee E Y
Center for Molecular Medicine/Institute of Biotechnology, University of Texas Health Science Center, San Antonio 78245-3207.
Breast Cancer Res Treat. 1994;32(1):19-38. doi: 10.1007/BF00666203.
Tumor suppressor genes have been identified by the occurrence of mutations in many families with hereditary forms of cancer, exposed during development of the tumor by loss of heterozygosity. They have a number of diverse functions. For example, both the RB gene of retinoblastoma and the p53 gene, which is commonly mutated in breast and colon cancer among others, produce proteins involved in distinct steps of cell cycle control, while the nm23 product prevents metastasis. Here we review the data developed until now on the possible presence and role of mutations in these and other tumor suppressor genes in breast cancer. A more complete understanding of the tumor suppressor genes could not only provide diagnostic information, but could lead to specific gene therapy to replace suppressor functions lost in individual tumors.
肿瘤抑制基因已通过许多患有遗传性癌症的家族中发生的突变得以鉴定，这些突变在肿瘤发生过程中因杂合性缺失而暴露出来。它们具有多种不同的功能。例如，视网膜母细胞瘤的RB基因以及在乳腺癌和结肠癌等多种癌症中常见突变的p53基因，产生参与细胞周期控制不同步骤的蛋白质，而nm23产物可防止转移。在此，我们综述了迄今已得出的关于这些及其他肿瘤抑制基因在乳腺癌中可能存在的突变及其作用的数据。对肿瘤抑制基因更全面的了解不仅可以提供诊断信息，还可能导致针对个体肿瘤中丧失的抑制功能进行替代的特异性基因治疗。
