TY - JOUR
T1 - Fanconi Anemia Gene Mutations Are Not Involved in Sporadic Wilms Tumor
AU - Adank, Muriel A.
AU - Segers, Heidi
AU - van Mil, Saskia E.
AU - van Helsdingen, Yvette M.
AU - Ameziane, Najim
AU - van den Ouweland, Ans M. W.
AU - Wagner, Anja
AU - Meijers-Heijboer, Hanne
AU - Kool, Marcel
AU - de Kraker, Jan
AU - Waisfisz, Quinten
AU - van den Heuvel-Eibrink, Marry M.
PY - 2010
Y1 - 2010
N2 - Bi-allelic germline mutations of the Fancom 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 hi-allelic mutations in these FA-genes do not contribute significantly to the occurrence of WT Pediatr Blood Cancer 2010,55 742-744 (c) 2010 Wiley-Liss, Inc
AB - Bi-allelic germline mutations of the Fancom 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 hi-allelic mutations in these FA-genes do not contribute significantly to the occurrence of WT Pediatr Blood Cancer 2010,55 742-744 (c) 2010 Wiley-Liss, Inc
U2 - https://doi.org/10.1002/pbc.22588
DO - https://doi.org/10.1002/pbc.22588
M3 - Article
C2 - 20589654
SN - 1545-5009
VL - 55
SP - 742
EP - 744
JO - Pediatric blood & cancer
JF - Pediatric blood & cancer
IS - 4
ER -