GERMLINE WT1 MUTATIONS IN WILMS-TUMOR PATIENTS - PRELIMINARY-RESULTS

We conducted a comparative study of the prevalence of germline WT1 mut ations in patients with Wilms' tumor. Patients in Group 1 have familia r Wilms' tumor, bilateral disease, associated urogenital anomalies, an d/or second cancers. Those in Group 2 are unilateral, sporadic Wilms' patients without other associated conditions. Patients with aniridia o r Denys-Drash syndrome are known to have WT1 alterations, and are excl uded from this study. Preliminary results on 96 subjects show that the overall germline WT1 mutation frequency is low (<5%). The work to dat e establishes the feasibility of identifying patients with germline WT 1 mutations and, in the future, offering genetic predisposition testin g to at-risk relatives. However, genetic predisposition testing of chi ldren for WT1 mutations raises many ethical, legal, and psychosocial i ssues; research is needed to evaluate risks and benefits. (C) 1996 Wil ey-Liss, Inc.