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

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

3 Citaten (Scopus)

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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.

Originele taal-2	Engels
Pagina's (van-tot)	742-744
Aantal pagina's	3
Tijdschrift	Pediatric Blood and Cancer
Volume	55
Nummer van het tijdschrift	4
DOI's	https://doi.org/10.1002/pbc.22588
Status	Gepubliceerd - okt. 2010
Extern gepubliceerd	Ja

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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.",

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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

UR - https://www.scopus.com/pages/publications/77957048092

U2 - 10.1002/pbc.22588

DO - 10.1002/pbc.22588

M3 - Article

C2 - 20589654

AN - SCOPUS:77957048092

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

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