title: Fanconi anemia gene mutations are not involved in sporadic Wilms tumor.
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.
authors.affiliation: Section Oncogenetics, Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands. m.adank@vumc.nl
authors.forename: Muriel A
authors.initials: MA
authors.lastname: Adank
authors.forename: Heidi
authors.initials: H
authors.lastname: Segers
authors.forename: Saskia E
authors.initials: SE
authors.lastname: van Mil
authors.forename: Yvette M
authors.initials: YM
authors.lastname: van Helsdingen
authors.forename: Najim
authors.initials: N
authors.lastname: Ameziane
authors.forename: Ans M W
authors.initials: AM
authors.lastname: van den Ouweland
authors.forename: Anja
authors.initials: A
authors.lastname: Wagner
authors.forename: Hanne
authors.initials: H
authors.lastname: Meijers-Heijboer
authors.forename: Marcel
authors.initials: M
authors.lastname: Kool
authors.forename: Jan
authors.initials: J
authors.lastname: de Kraker
authors.forename: Quinten
authors.initials: Q
authors.lastname: Waisfisz
authors.forename: Marry M
authors.initials: MM
authors.lastname: van den Heuvel-Eibrink
mesh_terms: 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*
chemical_list: D000076164:Fanconi Anemia Complementation Group N Protein; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D025521:Tumor Suppressor Proteins