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 › peer-review

3 Citations (Scopus)

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. Pediatr Blood Cancer.

Original language	English
Pages (from-to)	742-744
Number of pages	3
Journal	Pediatric Blood and Cancer
Volume	55
Issue number	4
DOIs	https://doi.org/10.1002/pbc.22588
Publication status	Published - Oct 2010
Externally published	Yes

Keywords

BRCA2/FANCD1
Fanconi anemia
PALB2/FANCN
Wilms tumor

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10.1002/pbc.22588

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@article{9a6819b8d5d14b4b892c5794581d8947,

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. Pediatr Blood Cancer.",

keywords = "BRCA2/FANCD1, Fanconi anemia, PALB2/FANCN, Wilms tumor",

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",

month = oct,

doi = "10.1002/pbc.22588",

language = "English",

volume = "55",

pages = "742--744",

journal = "Pediatric Blood and Cancer",

issn = "1545-5009",

publisher = "Wiley-Liss Inc.",

number = "4",

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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 - 2010/10

Y1 - 2010/10

N2 - 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. Pediatr Blood Cancer.

AB - 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. Pediatr Blood Cancer.

KW - BRCA2/FANCD1

KW - Fanconi anemia

KW - PALB2/FANCN

KW - Wilms tumor

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U2 - 10.1002/pbc.22588

DO - 10.1002/pbc.22588

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SN - 1545-5009

VL - 55

SP - 742

EP - 744

JO - Pediatric Blood and Cancer

JF - Pediatric Blood and Cancer

IS - 4

ER -

Fanconi anemia gene mutations are not involved in sporadic Wilms tumor

Abstract

Keywords

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