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Pediatr Blood Cancer. 2010 Oct;55(4):742-4. doi: 10.1002/pbc.22588.

Fanconi anemia gene mutations are not involved in sporadic Wilms tumor.

Author information

1
Section Oncogenetics, Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands. m.adank@vumc.nl

Abstract

Bi-allelic germline mutations of the Fanconi anemia (FA) genes, PALB2/FANCN and BRCA2/FANCD1, have been reported in a few Wilms tumor (WT) patients with an atypical FA phenotype. Therefore, we screened a random cohort of 47 Dutch WT cases for germline mutations in these two FA-genes by DNA sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA). Although several cases appeared to carry missense variants, no bi-allelic pathogenic mutations were identified, indicating that bi-allelic mutations in these FA-genes do not contribute significantly to the occurrence of WT.

PMID:
20589654
DOI:
10.1002/pbc.22588
[Indexed for MEDLINE]

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