Miki Y
Dept. of Human Genome Analysis, Japanese Foundation for Cancer Research, Tokyo, Japan.
Gan To Kagaku Ryoho. 1997 Jun;24(8):930-7.
Genetic diagnosis of hereditary tumors has progressed extensively and contributed to the presymptomatic testing for mutation carriers. This evolution of genetic testing for cancer susceptibility leads to improved prevention and early detection of cancers. However, the benefits and limits of testing, and the range of prevention and treatment are different in each hereditary tumor. The American Society of Clinical Oncology (ASCO) made the statement on genetic testing for cancer susceptibility and showed three categories for consideration of cancer predisposition testing. They recommend that genetic testing should be offered only for the categories including well-defined tumors. We described the characteristics of hereditary tumors in the three categories and discussed the significance of genetic testing for each tumor. In conclusion, genetic testing for cancer susceptibility should be applied only for subsets of hereditary syndromes, and it is important to continue the analysis of the significance (frequency or penetrance) of mutations of cancer predisposition genes and to make clear the genotype-phenotype and other correlations.
遗传性肿瘤的基因诊断取得了长足进展，并有助于对突变携带者进行症状前检测。癌症易感性基因检测的这种发展有助于改善癌症的预防和早期发现。然而，每种遗传性肿瘤的检测益处和局限性，以及预防和治疗的范围各不相同。美国临床肿瘤学会（ASCO）就癌症易感性基因检测发表了声明，并列出了三类需要考虑的癌症易感性检测。他们建议仅对包括明确肿瘤类型在内的类别提供基因检测。我们描述了这三类遗传性肿瘤的特征，并讨论了每种肿瘤基因检测的意义。总之，癌症易感性基因检测应仅应用于遗传性综合征的子集，继续分析癌症易感基因的突变意义（频率或外显率）并明确基因型与表型及其他相关性非常重要。
