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Rare Diseases Blog

By Mary Kugler, R.N., About.com Guide to Rare Diseases since 2000

Gene mutation associated with Wilms tumor

Tuesday January 23, 2007
Wilms tumor grows in the kidneyWilms tumor (nephroblastoma) is a kidney cancer that occurs in young children. In 1990, mutations in a gene called WT1 were associated with Wilms tumor, accounting for about 5% of cases. A few other genes have also been associated with the disease, but scientists have continued to look for gene(s) that might be associated with many or most cases. Researchers at the Massachusetts General Hospital Cancer Center report they've found one, which they've named WTX. Mutations in the WTX gene were found in nearly 30% of the 51 Wilms tumor samples the researchers examined. The gene is on the X (female) chromosome. The researchers are now looking at the normal function of WTX and how it is related to the formation of kidney tumors. The research was published in the January 4, 2007, online edition of Science.

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