Linked Life Data

20589654

Source:http://linkedlifedata.com/resource/pubmed/id/20589654

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2010-8-31
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1545-5017
pubmed:author
pubmed:copyrightInfo
Copyright 2010 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
55
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
742-4
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Fanconi anemia gene mutations are not involved in sporadic Wilms tumor.
pubmed:affiliation
Section Oncogenetics, Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands. m.adank@vumc.nl
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't