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

doi:10.1002/pbc.22588

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 journal › Article › Academic › peer-review

Abstract

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

Original language	English
Pages (from-to)	742-744
Journal	Pediatric blood & cancer
Volume	55
Issue number	4
DOIs	https://doi.org/10.1002/pbc.22588
Publication status	Published - 2010

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10.1002/pbc.22588

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@article{a359efd911504ac795927d3f754a8248,

title = "Fanconi Anemia Gene Mutations Are Not Involved in Sporadic Wilms Tumor",

abstract = "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",

author = "Adank, \{Muriel A.\} and Heidi Segers and \{van Mil\}, \{Saskia E.\} and \{van Helsdingen\}, \{Yvette M.\} and Najim Ameziane and \{van den Ouweland\}, \{Ans M. W.\} and Anja Wagner and Hanne Meijers-Heijboer and Marcel Kool and \{de Kraker\}, Jan and Quinten Waisfisz and \{van den Heuvel-Eibrink\}, \{Marry M.\}",

year = "2010",

doi = "10.1002/pbc.22588",

language = "English",

volume = "55",

pages = "742--744",

journal = "Pediatric blood \& cancer",

issn = "1545-5009",

publisher = "Wiley-Liss Inc.",

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}

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 - 10.1002/pbc.22588

DO - 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 -

Fanconi Anemia Gene Mutations Are Not Involved in Sporadic Wilms Tumor

Abstract

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