Wilms tumor suppressor gene

P5. Pelletier, J., Bruening, W., Kashtan, C. E., Mauer, S. M., Manivel, J. C., Striegel, J. E., Houghton, D. C., Junien, C., Habib, R., and Fouser, L., Germline mutations in the Wilms tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67, 437-447 (1991). 

The Wilms tumor suppressor gene, WTl, is located on chromosome llpl3. It codes for a 45-kDa protein that appears to function in transcriptional regulation by suppressing the... 

Wilms tumor gene (WTl) is a tumor suppressor gene present on chromosome 11. It was first reported as a candidate for main gene in the development of Wilms tumor. The immunohistochemical expression of WTl was demonstrated in a variety of neoplasms. A majority of epithelioid mesotheliomas and a small percentage of sarcomatoid mesotheliomas express WTl. Strong immunoreactivity for WTl is demonstrated in desmoplastic, small round-cell tumors (DSRT). WTl represents an... 

Many human diseases including cancer may involve mutations that cause defective splicing (Faustino and Cooper 2003). Some genes in which a mutation is known to cause defective splicing and human diseases include BRCA1 BRCA2, HGH, cystic fibrosis spinal muscular atrophy (SMA), myotonic dystrophy (MD), Wilms tumor suppressor associated with Frasier syndrome (WT1), and many more. 

Wilms tumor is only rarely inherited (about 5%) and follows an autosomal dominant pattern in these families. Penetrance is about 60%, i.e. the disease can be transmitted by healthy gene carriers. The involvement of tumor suppressor gene has been shown. The risk for birth of an affected child of a healthy gene carrier (see below) is about 30%. Bilateral and multifocal tumors can always be regarded as heritable. For practical counseling the following risks can be given ... 

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