Related Experiment Video
Updated: Jun 11, 2026
Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
Fanconi anemia gene mutations are not involved in sporadic Wilms tumor
Muriel A Adank1, Heidi Segers, Saskia E van Mil
1Section 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.
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