GermlineWT1 mutations in Wilms' tumor patients: Preliminary results

✍ Scribed by Li, Frederick P.; Breslow, Norman E.; Morgan, Jennifer M.; Ghahremani, Majid; Miller, Glenn A.; Grundy, Paul E.; Green, Daniel M.; Diller, Lisa R.; Pelletier, Jerry

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 450 KB
• Volume: 27
• Category: Article
• ISSN: 0098-1532
• DOI: 10.1002/(sici)1096-911x(199611)27:5<404::aid-mpo3>3.0.co;2-q

✦ Synopsis

We conducted a comparative study of the prevalence of gerrnline WTI mutations in patients with Wilms' tumor. Patients in Group l have familial Wilms' tumor, bilateral disease, associated urogenital anomalies, and/or second cancers. Those in Group 2 are unilateral, sporadic Wilrns' patients without other associated conditions. Patients with aniridia or Denys-Drash syndrome are known to have WTI alterations, andareexcludedfrom thisstudy. Preliminary results on 96 subjects show that the overall germline WTI mutation frequency is low (<5%). The workto dateestablishes thefeasibility of identifying patients with germline WTI mutations and, in the future, offering genetic. predisposition testing to at-risk relatives. However, genetic predisposition testing of children for WTI mutations raises many ethical, legal, and psychosocial issues; research is needed to evaluate risks and benefits.