title: Germline WT1 mutations in Wilms' tumor patients: preliminary results.
abstract: 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.
authors.affiliation: Dana-Farber Cancer Institute, Boston, Massachusetts 02115, USA.
authors.forename: F P
authors.initials: FP
authors.lastname: Li
authors.forename: N E
authors.initials: NE
authors.lastname: Breslow
authors.forename: J M
authors.initials: JM
authors.lastname: Morgan
authors.forename: M
authors.initials: M
authors.lastname: Ghahremani
authors.forename: G A
authors.initials: GA
authors.lastname: Miller
authors.forename: P E
authors.initials: PE
authors.lastname: Grundy
authors.forename: D M
authors.initials: DM
authors.lastname: Green
authors.forename: L R
authors.initials: LR
authors.lastname: Diller
authors.forename: J
authors.initials: J
authors.lastname: Pelletier
mesh_terms: D001483:Base Sequence; D005091:Exons / Q000235:genetics; D016162:Genes, Wilms Tumor / Q000235:genetics*; D006801:Humans; D007498:Iris / Q000002:abnormalities; D007680:Kidney Neoplasms / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009378:Neoplasms, Multiple Primary / Q000473:pathology; D015995:Prevalence; D013577:Syndrome; D014564:Urogenital Abnormalities; D009396:Wilms Tumor / Q000235:genetics*