MUTATIONAL ANALYSIS OF THE TUMOR-SUPPRESSOR GENE WT1 - DETECTION OF A NOVEL HOMOZYGOUS POINT MUTATION IN SPORADIC UNILATERAL WILMS-TUMOR
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- Published online on: November 1, 1995 https://doi.org/10.3892/ijo.7.5.1103
- Pages: 1103-1107
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Abstract
The WT1 gene located on chromosome 11p13, has been identified as the first Wilms' tumor suppressor gene and has been implicated in the development of Wilms' tumor. About 10% of Wilms' tumors analyzed to date carry a mutation and only 6 different point mutations affecting the zinc finger region have been reported. We analyzed the zinc finger coding exons of 38 sporadic Wilms' tumor by SSCP and detected 2 point mutations. One homo/hemizygous mutation, already described in the literature, replaced an arginine in zinc finger II by a stop codon. The other mutation, a replacement of an arginine by a stop codon in zinc finger I, represents a novel mutation.
