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. Pediatr Blood Cancer.

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Keywords BRCA2/FANCD1, Fanconi anemia, PALB2/FANCN, Wilms tumor
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Journal Pediatric Blood & Cancer
Adank, M.A, Segers, H, van Mil, S.E, van Helsdingen, Y.M, Ameziane, N, van den Ouweland, A.M.W, … van den Heuvel-Eibrink, M.M. (2010). Fanconi anemia gene mutations are not involved in sporadic Wilms tumor. Pediatric Blood & Cancer, 55(4), 742–744. doi:10.1002/pbc.22588