Article
Fanconi anemia gene mutations are not involved in sporadic Wilms tumor.
Pediatric blood & cancer - 1 Oct 2010
Adank Muriel A, Segers Heidi, van Mil Saskia E, van Helsdingen Yvette M, Ameziane Najim, van den Ouweland Ans M W, Wagner Anja, Meijers-Heijboer Hanne, Kool Marcel, de Kraker Jan, Waisfisz Quinten, van den Heuvel-Eibrink Marry M
Abstract excerpt
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...
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