Linked Life Data

21356188

Source:http://linkedlifedata.com/resource/pubmed/id/21356188

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2011-3-1
pubmed:abstractText
Clinical cancer genetic susceptibility analysis typically proceeds sequentially, beginning with the most likely causative gene. The process is time consuming and the yield is low, particularly for families with unusual patterns of cancer. We determined the results of in parallel mutation analysis of a large cancer-associated gene panel. We performed deletion analysis and sequenced the coding regions of 45 genes (8 oncogenes and 37 tumor suppressor or DNA repair genes) in 48 childhood cancer patients who also (i) were diagnosed with a second malignancy under age 30, (ii) have a sibling diagnosed with cancer under age 30, and/or (iii) have a major congenital anomaly or developmental delay. Deleterious mutations were identified in 6 of 48 (13%) families, 4 of which met the sibling criteria. Mutations were identified in genes previously implicated in both dominant and recessive childhood syndromes, including SMARCB1, PMS2, and TP53. No pathogenic deletions were identified. This approach has provided efficient identification of childhood cancer susceptibility mutations and will have greater utility as additional cancer susceptibility genes are identified. Integrating parallel analysis of large gene panels into clinical testing will speed results and increase diagnostic yield. The failure to detect mutations in 87% of families highlights that a number of childhood cancer susceptibility genes remain to be discovered.
pubmed:grant
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
2210-7762
pubmed:author
pubmed:copyrightInfo
Copyright © 2011 Elsevier Inc. All rights reserved.
pubmed:issnType
Print
pubmed:volume
204
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
19-25
pubmed:dateRevised
2011-8-1
pubmed:meshHeading
pubmed-meshheading:21356188-Adolescent, pubmed-meshheading:21356188-Adult, pubmed-meshheading:21356188-Algorithms, pubmed-meshheading:21356188-Child, pubmed-meshheading:21356188-DNA Mutational Analysis, pubmed-meshheading:21356188-DNA Repair, pubmed-meshheading:21356188-Gene Dosage, pubmed-meshheading:21356188-Genes, Dominant, pubmed-meshheading:21356188-Genes, Recessive, pubmed-meshheading:21356188-Genes, Tumor Suppressor, pubmed-meshheading:21356188-Genetic Predisposition to Disease, pubmed-meshheading:21356188-Humans, pubmed-meshheading:21356188-Immunoprecipitation, pubmed-meshheading:21356188-Models, Genetic, pubmed-meshheading:21356188-Mutation, pubmed-meshheading:21356188-Neoplasms, pubmed-meshheading:21356188-Oncogenes, pubmed-meshheading:21356188-Reverse Transcriptase Polymerase Chain Reaction, pubmed-meshheading:21356188-Rhabdoid Tumor
pubmed:year
2011
pubmed:articleTitle
Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel.
pubmed:affiliation
Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. splon@bcm.edu
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural