title: [Genetic testing for cancer susceptibility: the present situation in Japan].
abstract: 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.
authors.affiliation: Dept. of Human Genome Analysis, Japanese Foundation for Cancer Research, Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Miki
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics; D004260:DNA Repair; D004198:Disease Susceptibility; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics; D009154:Mutation; D009369:Neoplasms / Q000175:diagnosis / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics