Fanconi anemia gene mutations are not involved in sporadic Wilms tumor.
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.
Adank
Muriel A
MA
Section Oncogenetics, Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands. m.adank@vumc.nl
Segers
Heidi
H
van Mil
Saskia E
SE
van Helsdingen
Yvette M
YM
Ameziane
Najim
N
van den Ouweland
Ans M W
AM
Wagner
Anja
A
Meijers-Heijboer
Hanne
H
Kool
Marcel
M
de Kraker
Jan
J
Waisfisz
Quinten
Q
van den Heuvel-Eibrink
Marry M
MM
D002648:Child; D002675:Child, Preschool; D005199:Fanconi Anemia / Q000235:genetics*; D000076164:Fanconi Anemia Complementation Group N Protein; D005260:Female; D024522:Genes, BRCA2; D006801:Humans; D007223:Infant; D007680:Kidney Neoplasms / Q000235:genetics*; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D009396:Wilms Tumor / Q000235:genetics*
D000076164:Fanconi Anemia Complementation Group N Protein; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D025521:Tumor Suppressor Proteins