| Autor: |
F P, Li, N E, Breslow, J M, Morgan, M, Ghahremani, G A, Miller, P E, Grundy, D M, Green, L R, Diller, J, Pelletier |
| Rok vydání: |
1996 |
| Předmět: |
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| Zdroj: |
Medical and pediatric oncology. 27(5) |
| ISSN: |
0098-1532 |
| Popis: |
We conducted a comparative study of the prevalence of germline WT1 mutations in patients with Wilms' tumor. Patients in Group 1 have familial Wilms' tumor, bilateral disease, associated urogenital anomalies, and/or second cancers. Those in Group 2 are unilateral, sporadic Wilms' patients without other associated conditions. Patients with aniridia or Denys-Drash syndrome are known to have WT1 alterations, and are excluded from this study. Preliminary results on 96 subjects show that the overall germline WT1 mutation frequency is low (5%). The work to date establishes the feasibility of identifying patients with germline WT1 mutations and, in the future, offering genetic predisposition testing to at-risk relatives. However, genetic predisposition testing of children for WT1 mutations raises many ethical, legal, and psychosocial issues; research is needed to evaluate risks and benefits. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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