Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Somatic nephroblastoma

Wilms tumor (nephroblastoma) can be caused by somatic mutations of the genes GPC3, WT1, and BRCA2.

Systematic

Wilms tumor
Aniridia-Wilms-tumor syndrome
Denys-Drash syndrome
Somatic nephroblastoma
GPC3
WT1
WAGR syndrome

References:

1.

White GR et. al. (2002) Somatic glypican 3 (GPC3) mutations in Wilms' tumour.

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2.

Rivera MN et. al. (2007) An X chromosome gene, WTX, is commonly inactivated in Wilms tumor.

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3.

Turleau C et. al. (1984) Del11p13/nephroblastoma without aniridia.

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4.

Narahara K et. al. (1984) Regional mapping of catalase and Wilms tumoraniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305--p1306.

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5.

MILLER RW et. al. (1964) ASSOCIATION OF WILMS'S TUMOR WITH ANIRIDIA, HEMIHYPERTROPHY AND OTHER CONGENITAL MALFORMATIONS.

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6.

None (1975) Bilateral Wilms' tumour. Age at diagnosis, associated congenital anormalies, and possible pattern of inheritance.

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7.

Juberg RC et. al. (1975) Familial occurrence of Wilms' tumor: nephroblastoma in one of monozygous twins and in another sibling.

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8.

Knudson AG et. al. (1975) Letter: Familial Wilms's tumor.

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9.

Francke U et. al. (1979) Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13.

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10.

Blanchet P et. al. (1977) XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation.

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11.

Dressler GR et. al. (1992) Pax-2 is a DNA-binding protein expressed in embryonic kidney and Wilms tumor.

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12.

Haber DA et. al. (1992) A dominant mutation in the Wilms tumor gene WT1 cooperates with the viral oncogene E1A in transformation of primary kidney cells.

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13.

Ton CC et. al. (1991) Smallest region of overlap in Wilms tumor deletions uniquely implicates an 11p13 zinc finger gene as the disease locus.

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14.

Kakati S et. al. (1991) Constitutional extra chromosomal element in a family with Wilms' tumor.

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15.

Schwartz CE et. al. (1991) Familial predisposition to Wilms tumor does not segregate with the WT1 gene.

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16.

Huff V et. al. (1990) Parental origin of de novo constitutional deletions of chromosomal band 11p13.

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17.

Jeanpierre C et. al. (1990) Constitutional and somatic deletions of two different regions of maternal chromosome 11 in Wilms tumor.

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18.

van Heyningen V et. al. (1990) Role for the Wilms tumor gene in genital development?

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19.

None (1990) Molecular genetics. A gene for Wilms tumour?

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20.

Haber DA et. al. (1990) An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor.

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21.

Kumar S et. al. (1987) A cell line from Wilms' tumour with deletion in short arm of chromosome II.

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22.

Kozman HM et. al. (1989) Molecular genetic evidence for common pathogenesis of childhood and adult Wilms' tumor.

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23.

de Ronde A et. al. (1988) Morphological transformation by early region human polyomavirus BK DNA of human fibroblasts with deletions in the short arm of one chromosome 11.

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24.

Seawright A et. al. (1988) Analysis of WAGR deletions and related translocations with gene-specific DNA probes, using FACS-selected cell hybrids.

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25.

Puissant H et. al. (1988) Molecular analysis of a reciprocal translocation t(5;11) (q11;p13) in a WAGR patient.

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26.

Grundy P et. al. (1988) Familial predisposition to Wilms' tumour does not map to the short arm of chromosome 11.

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27.

Huff V et. al. (1988) Lack of linkage of familial Wilms' tumour to chromosomal band 11p13.

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28.

Mannens M et. al. (1988) Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours.

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29.

Schroeder WT et. al. (1987) Nonrandom loss of maternal chromosome 11 alleles in Wilms tumors.

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30.

Michalopoulos EE et. al. (1985) Molecular analysis of gene deletion in aniridia--Wilms tumor association.

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31.

Raizis AM et. al. (1985) A mitotic recombination in Wilms tumor occurs between the parathyroid hormone locus and 11p13.

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32.

Koufos A et. al. () Loss of heterozygosity in three embryonal tumours suggests a common pathogenetic mechanism.

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33.

Reeve AE et. al. () Expression of insulin-like growth factor-II transcripts in Wilms' tumour.

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34.

Scott J et. al. () Insulin-like growth factor-II gene expression in Wilms' tumour and embryonic tissues.

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35.

Scoggin CH et. al. (1985) The E7-associated cell-surface antigen: a marker for the 11p13 chromosomal deletion associated with aniridia-Wilms tumor.

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36.

van Heyningen V et. al. (1985) Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome.

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37.

Weissman BE et. al. (1987) Introduction of a normal human chromosome 11 into a Wilms' tumor cell line controls its tumorigenic expression.

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38.

Porteous DJ et. al. (1987) HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.

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39.

Dao DD et. al. (1987) Genetic mechanisms of tumor-specific loss of 11p DNA sequences in Wilms tumor.

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40.

Kinberg JA et. al. (1987) Nephropathy-gonadal dysgenesis, type 2: renal failure in three siblings with XY dysgenesis in one.

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41.

Haning RV et. al. (1985) A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity.

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42.

None (1986) Chromosomal deletions and enzyme deficiencies.

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43.

Kaufman RL et. al. (1973) Wilms' tumour in father and son.

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44.

None (1973) Wilms' tumour in father and son.

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45.

None (1973) A general theory of carcinogenesis.

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46.

DiGeorge AM et. al. (1966) The association of aniridia, Wilms' tumor, and genital abnormalities.

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47.

Denys P et. al. () [Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms' tumor, parenchymatous nephropathy and XX/XY mosaicism].

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48.

Fraumeni JF et. al. (1968) Wilms' tumor and congenital aniridia.

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49.

Salazar H et. al. (1972) Ultrastructure and observations on the histogenesis of mesotheliomas, "adenomatoid tumors", of the female genital tract.

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50.

Brown WT et. al. (1972) Wilms' tumor in three successive generations.

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51.

Knudson AG et. al. (1972) Mutation and cancer: a model for Wilms' tumor of the kidney.

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52.

Meadows AT et. al. (1974) Wilms's tumor in three children of a woman with congenital hemihypertrophy.

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53.

Ladda R et. al. (1974) Computer-assisted analysis of chromosomal abnormalities: detection of a deletion in aniridia-Wilms' tumor syndrome.

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54.

Nakagome Y et. al. (1984) High-resolution studies in patients with aniridia-Wilms tumor association, Wilms tumor or related congenital abnormalities.

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55.

Turleau C et. al. (1984) Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature.

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56.

None (1980) Genes and cancer: the story of Wilms tumor.

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57.

Babaian RJ et. al. (1980) Wilms' tumor in the adult patient: diagnosis, management, and review of the world medical literature.

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58.

Yunis JJ et. al. (1980) Familial occurrence of the aniridia-Wilms tumor syndrome with deletion 11p13-14.1.

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59.

Cordero JF et. al. (1980) Wilms tumor in five cousins.

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60.

None (1981) Genetics of Wilms' tumor.

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61.

Kaneko Y et. al. (1981) Interstitial deletion of short arm of chromosome 11 limited to Wilms' tumor cells in a patient without aniridia.

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62.

Breslow NE et. al. (1982) Epidemiological features of Wilms' tumor: results of the National Wilms' Tumor Study.

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63.

McCoy FE et. al. (1983) Glomerulonephritis associated with male pseudohermaphroditism and nephroblastoma.

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64.

Huerre C et. al. () c-Ha-ras1 is not deleted in aniridia-Wilms' tumour association.

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65.

de Martinville B et. al. () The c-Ha-ras1, insulin and beta-globin loci map outside the deletion associated with aniridia-Wilms' tumour.

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66.

Koufos A et. al. () Loss of alleles at loci on human chromosome 11 during genesis of Wilms' tumour.

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67.

Orkin SH et. al. () Development of homozygosity for chromosome 11p markers in Wilms' tumour.

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68.

Reeve AE et. al. () Loss of a Harvey ras allele in sporadic Wilms' tumour.

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69.

Fearon ER et. al. () Somatic deletion and duplication of genes on chromosome 11 in Wilms' tumours.

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70.

Nordenskjöld A et. al. (1995) Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis.

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71.

Varanasi R et. al. (1994) Fine structure analysis of the WT1 gene in sporadic Wilms tumors.

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72.

Haber DA et. al. (1993) WT1-mediated growth suppression of Wilms tumor cells expressing a WT1 splicing variant.

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73.

Park S et. al. (1993) Inactivation of WT1 in nephrogenic rests, genetic precursors to Wilms' tumour.

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74.

Park S et. al. (1993) Altered trans-activational properties of a mutated WT1 gene product in a WAGR-associated Wilms' tumor.

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75.

Tsuchida Y et. al. (1995) [Hereditary renal tumors: Wilms' tumor--congenital anomalies' syndrome].

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76.

Rahman N et. al. (1996) Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12-q21.

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77.

Schumacher V et. al. (1997) Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.

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78.

Miyagawa K et. al. (1998) Loss of WT1 function leads to ectopic myogenesis in Wilms' tumour.

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79.

McDonald JM et. al. (1998) Linkage of familial Wilms' tumor predisposition to chromosome 19 and a two-locus model for the etiology of familial tumors.

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80.

None (1998) Nephrogenic rests and the pathogenesis of Wilms tumor: developmental and clinical considerations.

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81.

Patek CE et. al. (1999) A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome.

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82.

None (1999) Wilms' tumor and related abnormalities in the fetus and newborn.

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83.

Ruteshouser EC et. al. (2001) Absence of PPP2R1A mutations in Wilms tumor.

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84.

Lu YJ et. al. (2002) Chromosome 1q expression profiling and relapse in Wilms' tumour.

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85.

None (1957) A Wilms' tumour family.

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86.

FRASIER SD et. al. (1964) GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS.

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87.

FITZGERALD WL et. al. (1955) Bilateral Wilms tumor in a Wilms tumor family: case report.

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88.

Anglesio MS et. al. (2004) Differential expression of a novel ankyrin containing E3 ubiquitin-protein ligase, Hace1, in sporadic Wilms' tumor versus normal kidney.

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89.

Reid S et. al. (2005) Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.

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90.

Regev M et. al. (2008) Vertical transmission of a mutation in exon 1 of the WT1 gene: lessons for genetic counseling.

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91.

Slade I et. al. (2010) Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene.

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92.

Royer-Pokora B et. al. (2010) Wilms tumor cells with WT1 mutations have characteristic features of mesenchymal stem cells and express molecular markers of paraxial mesoderm.

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Update: Sept. 26, 2018