The research on the clinical characters of malignant neoplasm andthe origin of the causative-gene mutation in Werner's syndrome.

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The clinical characters of the malignant neoplasm caused by the causative gene of Werner's syndrome and the origin of the mutation of the gene were investigated. The database(WELTAC1) was constituted of case-reports in Japan. Several cases showed neither consanguineous marriage nor familial history, and it indicates these two items are not suitable as mandatory fields for the diagnosis of the disease. The estimated-frequencies of gastric cancer, lung cancer, breast cancer, et al., and the estimated-age of onset for mesenchymal tumors were almost equal to those in general population. Fifteen cases in 20 cases of multiple neoplasm showed non-epithelial neoplasm. The SNP analysis revealed the ethnical differences in haplotype distribution and it would be relevant to the origin of the mutation of causative gene.