Werner syndrome

Abstract

WS has been associated with an excess of cancer of unusual types, especially sarcomas. Thyroid carcinoma, the most frequent epithelial cancer in WS, accounted for 14% of neoplasia in Japanese with WS. The ratio of epithelial to non-epithelial cancer was 1:1, as compared with 10:1 in the general adult population. Genotype/phenotype correlations may be due to a mutation that induces a site-specific cancer or host-susceptibility factors, either genetic or environmental. Recently, we and others have identified WS gene(WRN) as chromosome 8p12-located RecQ type DNA/RNA helicase. The wild type WRN protein has the conventional RecQ type DNA helicase activity to unwind DNA/RNA helix. The precise functional study of the helicase may help the analysis of "Why and how we age and have cancer?" question in the near future.