A clinical overview of WT1 gene mutations
- 1 January 1997
- journal article
- review article
- Published by Hindawi Limited in Human Mutation
- Vol. 9 (3), 209-225
- https://doi.org/10.1002/(sici)1098-1004(1997)9:3<209::aid-humu2>3.0.co;2-2
Abstract
Mutations in the WT1 gene ere anticipated to explain the genetic basis of the childhood kidney cancer, Wilms' tumour (WT). Six years on, we revie 100 reports of intragenic WT1 mutations and examine the accompanying clinical phenotypes. While only 5% of sporadic Wilms' tumours have intragenic WT1 mutations, > 90% of patients with the Denys‐Drash syndrome (renal nephropathy, gonadal anomaly, predisposition to WT) carry constitutional intragenic WT1 mutations. WT1 mutations have also been reported in juvenile granulosa cell tumour, non‐asbestos related mesothelioma, desmoplastic small round cell tumour and, most recently, acute myeloid leukemia. Hum Mutat 9:209–225, 1997.Keywords
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