|Grant Number:||5R01CA078257-05 Interpret this number|
|Primary Investigator:||Huff, Vicki|
|Organization:||Ut Md Anderson Cancer Ctr|
|Project Title:||Molecular Investigation of Familial Wilms Tumor|
DESCRIPTION: (Adapted from investigator's abstract) A revised application to test the hypothesis that tumorigenesis in Wilms tumor results from mutations, either germline or somatic, at more than one locus in the tumor cell. One Wilms tumor gene is known: the transcription factor WT1 on chromosome 11p. The PI proposes to fine map a second locus, WT2, for hereditary Wilms tumor on chr19q and identify the responsible gene. Specific Aims are: (1) Ascertain and sample additional families with familial WT; (2) identify the subset that show linkage to 19q (as well as any families linked to other regions implicated in WT); (3) explore all familial cases, whether linked to 19q or not, for LOH involving the critical region on 19q or other regions implicated in WT; (4) refine the position of the 19q WT2 locus on a physical map of the region using meiotic recombination, loss of heterozygosity, and disequilibrium approaches; and (5) screen candidate genes and ESTs in the region for germline and somatic mutations in WT patients
The Wilms tumor gene, Wt1, is required for Sox9 expression and maintenance of tubular architecture in the developing testis.
Authors: Gao F, Maiti S, Alam N, Zhang Z, Deng JM, Behringer RR, Lécureuil C, Guillou F, Huff V
Source: Proc Natl Acad Sci U S A, 2006 Aug 8;103(32), p. 11987-92.
EPub date: 2006 Jul 28.
Genome-wide loss of heterozygosity analysis of WT1-wild-type and WT1-mutant Wilms tumors.
Authors: Ruteshouser EC, Hendrickson BW, Colella S, Krahe R, Pinto L, Huff V
Source: Genes Chromosomes Cancer, 2005 Jun;43(2), p. 172-80.
The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome.
Authors: Gao F, Maiti S, Sun G, Ordonez NG, Udtha M, Deng JM, Behringer RR, Huff V
Source: Mol Cell Biol, 2004 Nov;24(22), p. 9899-910.
Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.
Authors: Royer-Pokora B, Beier M, Henzler M, Alam R, Schumacher V, Weirich A, Huff V
Source: Am J Med Genet A, 2004 Jun 15;127A(3), p. 249-57.