Fanconi anemia gene mutations are not involved in sporadic Wilms tumor

Muriel A. Adank, Heidi Segers, Saskia E. Van Mil, Yvette M. Van Helsdingen, Najim Ameziane, Ans M.W. Van Den Ouweland, Anja Wagner, Hanne Meijers-Heijboer, Marcel Kool, Jan De Kraker, Quinten Waisfisz, Marry M. Van Den Heuvel-Eibrink

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)742-744
Number of pages3
JournalPediatric Blood and Cancer
Issue number4
Publication statusPublished - Oct 2010
Externally publishedYes


  • Fanconi anemia
  • Wilms tumor


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