## Abstract Desmoid tumors (aggressive fibromatosis) are locally invasive soft tissue tumors in which β‐catenin/TCF3 mediated Wnt signaling is activated. More than 80% of desmoid tumors contain activating mutations in β‐catenin. It has been shown that the Wnt signaling pathway interacts with Wilms'
Low frequency of mutations in the WT1 coding region in Wilms' tumor
✍ Scribed by Keith W. Brown; Helen P. Wilmore; Joanne E. Watson; Martin G. Mott; P. Jeremy Berry; Norman J. Maitland
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 505 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1045-2257
No coin nor oath required. For personal study only.
✦ Synopsis
Abstract
A series of twenty unselected Wilms′ tumors were analysed for alterations in the WT1 tumor suppressor gene. The entire coding region of WT1 was amplified by RNA‐PCR, and then screened for mutations by single‐strand conformational polymorphism analysis (SSCP). This method was shown to be capable of detecting point mutations in the WT1 gene, by using an experimentally produced mutation. A single mutation, a 226 bp intragenic deletion, was detected in a tumor from a patient with the WAGR syndrome. These results suggest that alterations in the WT1 gene may be involved in only a subset of Wilms′ tumors, and that other loci need to be investigated as potential suppressor genes in sporadic Wilms′ tumors. © 1993 Wiley‐Liss, Inc.
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