Germline WT1 mutations in Wilms' tumor patients: preliminary results.
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.
Li
F P
FP
Dana-Farber Cancer Institute, Boston, Massachusetts 02115, USA.
Breslow
N E
NE
Morgan
J M
JM
Ghahremani
M
M
Miller
G A
GA
Grundy
P E
PE
Green
D M
DM
Diller
L R
LR
Pelletier
J
J
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*