Establishment of a genetic diagnosis system for cancer predispositionand its application to cancer prevention.

我们的目的是澄清散发性癌症遗传易感性的本质，受遗传多态性的影响，如单核苷酸多态性（SNP）。通过分析大约8000个样本，我们发现53个SNP与日本17种主要癌症中的至少一种有关。对每种癌症和每个个体的重叠SNP的倍增OR数据进行分层显示，大约15%和1%的日本人分别代表了大多数癌症的高风险和最高风险群体。其他主要发现是，在4种癌症的两个病例/对照数据集之间，约有一半的风险snp被复制，风险- snp组合在性别之间存在很大差异，一些snp被确定为与癌症进展或特定基因改变的发生密切相关。

We have aimed to clarify the nature of genetic predisposition for sporadic cancers, influenced by genetic polymorphisms, such as single-nucleotide polymorphism (SNP). By analyzing about 8,000 specimens, we found 53 SNP are related with at least one of 17 major cancers in Japan. Stratification of the data of the multiplied OR of overlapping SNP for each cancer and each individual revealed that about 15% and 1% of the Japanese represent the high- and the highest risk-group for most cancers, respectively. Other major findings are, about half of the SNPs at risk were replicated between two case/control data sets on 4 kinds of cancers, Risk-SNP combinations were largely different between genders, some SNPs were identified as those closely associated with cancer-progression or occurrence of specific gene alterations.