Genetic Testing of Cancer : Current Practice and Future Perspectives

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  • 癌遺伝子検査の現状と展望

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Abstract

  As the predicted life-time probability for having any cancer among Japanese are reported about 50% , it is urgent issue to establish an effective strategy for prevention and early detection of cancer. To this end, molecular epidemiological approach, genetic testing, can contribute to realize the reliable prediction system. This review summarizes the status quo and future perspectives and suggests a direction of the final goal of the research and practice of molecular genetics of cancer. <br>  First of all, the current practice on genetic testing of hereditary cancers is introduced, then recent progress in Parmacogenetics on drug response will be summarized. Genetic testing for predictive-incidence of sporadic cancers is still to be developed, but some leading data show promising predictive power such as in prostate cancer. Our preliminary data on comprehensive approach to establish a personal prediction system for many cancers in Japanese will be also shown. By analyzing about 4,000 specimens, we have found that 44 missense-SNP from 40 genes are significantly associated with at least one of 14 kinds of major cancers, which altogether cover~80% of total cancer patients in Japan. According to the stratification of the distribution of overlapping genotypes at risk on each individual for each cancer type, we have shown that about 60~80% of Japanese are relatively cancer-protective, 10~30% are intermediate, 5~20% are high-risk, and 0.5~2% are extremely high-risk on each type of cancer. Thus, our approach serves an efficient strategy to predict the susceptibility to specific cancers on each person. Once the strategy is established, we can make use them to prevent cancer by altering life-styles and to detect early cancers by periodic medical checking of the specified organs of the confined individuals at risk. Finally, scientific, ethical, and socio-economic aspects, as well as the limitation of genetic testing will be discussed.

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