Matches in SemOpenAlex for { <https://semopenalex.org/work/W1983258072> ?p ?o ?g. }
- W1983258072 endingPage "25" @default.
- W1983258072 startingPage "19" @default.
- W1983258072 abstract "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." @default.
- W1983258072 created "2016-06-24" @default.
- W1983258072 creator A5003575856 @default.
- W1983258072 creator A5023572421 @default.
- W1983258072 creator A5024834580 @default.
- W1983258072 creator A5025446142 @default.
- W1983258072 creator A5028969570 @default.
- W1983258072 creator A5030357870 @default.
- W1983258072 creator A5037749785 @default.
- W1983258072 creator A5055519116 @default.
- W1983258072 creator A5059626751 @default.
- W1983258072 creator A5060302560 @default.
- W1983258072 creator A5079706989 @default.
- W1983258072 creator A5091880692 @default.
- W1983258072 date "2011-01-01" @default.
- W1983258072 modified "2023-09-24" @default.
- W1983258072 title "Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel" @default.
- W1983258072 cites W1963973437 @default.
- W1983258072 cites W1972730151 @default.
- W1983258072 cites W1999340868 @default.
- W1983258072 cites W2002177514 @default.
- W1983258072 cites W2005094648 @default.
- W1983258072 cites W2008852784 @default.
- W1983258072 cites W2010908736 @default.
- W1983258072 cites W2010978319 @default.
- W1983258072 cites W2017051073 @default.
- W1983258072 cites W2017501548 @default.
- W1983258072 cites W2019109254 @default.
- W1983258072 cites W2020277419 @default.
- W1983258072 cites W2040984959 @default.
- W1983258072 cites W2042962536 @default.
- W1983258072 cites W2044586667 @default.
- W1983258072 cites W2062059004 @default.
- W1983258072 cites W2064423959 @default.
- W1983258072 cites W2077349205 @default.
- W1983258072 cites W2110911775 @default.
- W1983258072 cites W2128140173 @default.
- W1983258072 cites W2128481350 @default.
- W1983258072 cites W2128641667 @default.
- W1983258072 cites W2181086016 @default.
- W1983258072 cites W4240237951 @default.
- W1983258072 doi "https://doi.org/10.1016/j.cancergencyto.2010.11.001" @default.
- W1983258072 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3075924" @default.
- W1983258072 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21356188" @default.
- W1983258072 hasPublicationYear "2011" @default.
- W1983258072 type Work @default.
- W1983258072 sameAs 1983258072 @default.
- W1983258072 citedByCount "14" @default.
- W1983258072 countsByYear W19832580722012 @default.
- W1983258072 countsByYear W19832580722013 @default.
- W1983258072 countsByYear W19832580722016 @default.
- W1983258072 countsByYear W19832580722017 @default.
- W1983258072 countsByYear W19832580722018 @default.
- W1983258072 countsByYear W19832580722019 @default.
- W1983258072 countsByYear W19832580722021 @default.
- W1983258072 crossrefType "journal-article" @default.
- W1983258072 hasAuthorship W1983258072A5003575856 @default.
- W1983258072 hasAuthorship W1983258072A5023572421 @default.
- W1983258072 hasAuthorship W1983258072A5024834580 @default.
- W1983258072 hasAuthorship W1983258072A5025446142 @default.
- W1983258072 hasAuthorship W1983258072A5028969570 @default.
- W1983258072 hasAuthorship W1983258072A5030357870 @default.
- W1983258072 hasAuthorship W1983258072A5037749785 @default.
- W1983258072 hasAuthorship W1983258072A5055519116 @default.
- W1983258072 hasAuthorship W1983258072A5059626751 @default.
- W1983258072 hasAuthorship W1983258072A5060302560 @default.
- W1983258072 hasAuthorship W1983258072A5079706989 @default.
- W1983258072 hasAuthorship W1983258072A5091880692 @default.
- W1983258072 hasBestOaLocation W19832580722 @default.
- W1983258072 hasConcept C104317684 @default.
- W1983258072 hasConcept C121608353 @default.
- W1983258072 hasConcept C13514818 @default.
- W1983258072 hasConcept C138496976 @default.
- W1983258072 hasConcept C15744967 @default.
- W1983258072 hasConcept C23085057 @default.
- W1983258072 hasConcept C2776194465 @default.
- W1983258072 hasConcept C2778677574 @default.
- W1983258072 hasConcept C501734568 @default.
- W1983258072 hasConcept C54355233 @default.
- W1983258072 hasConcept C86803240 @default.
- W1983258072 hasConceptScore W1983258072C104317684 @default.
- W1983258072 hasConceptScore W1983258072C121608353 @default.
- W1983258072 hasConceptScore W1983258072C13514818 @default.
- W1983258072 hasConceptScore W1983258072C138496976 @default.
- W1983258072 hasConceptScore W1983258072C15744967 @default.
- W1983258072 hasConceptScore W1983258072C23085057 @default.
- W1983258072 hasConceptScore W1983258072C2776194465 @default.
- W1983258072 hasConceptScore W1983258072C2778677574 @default.
- W1983258072 hasConceptScore W1983258072C501734568 @default.
- W1983258072 hasConceptScore W1983258072C54355233 @default.
- W1983258072 hasConceptScore W1983258072C86803240 @default.
- W1983258072 hasIssue "1" @default.
- W1983258072 hasLocation W19832580721 @default.
- W1983258072 hasLocation W19832580722 @default.
- W1983258072 hasLocation W19832580723 @default.
- W1983258072 hasLocation W19832580724 @default.
- W1983258072 hasOpenAccess W1983258072 @default.
- W1983258072 hasPrimaryLocation W19832580721 @default.