ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 41 citations in OpenAlex.
- Breakpoint-resolved balanced t(2;12)(q35;q24.31) disruptingMetabolism open · 2026Article
- Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation ofMolecular syndromology · 2022Article
- Molecular characterization of PRKN structural variations identified through whole-genome sequencing.Molecular genetics & genomic medicine · 2018Article
- Molecular genetics of 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2018Review
- Whole genome sequencing identifies a novel homozygous exon deletion in theNPJ genomic medicine · 2017Article
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Authors and funding
11 authors at 2 institutions in 1 country.
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Abstract
purposeWe applied whole-genome sequencing (WGS) to children diagnosed with neoplasms and found to carry apparently balanced constitutional translocations to discover novel genic disruptions.
methodsWe applied the structural variation (SV) calling programs CREST, BreakDancer, SV-STAT, and CGAP-CNV, and we developed an annotative filtering strategy to achieve nucleotide resolution at the translocations.
resultsWe identified the breakpoints for t(6;12)(p21.1;q24.31), disrupting HNF1A in a patient diagnosed with hepatic adenomas and maturity-onset diabetes of the young (MODY). Translocation as the disruptive event of HNF1A, a gene known to be involved in MODY3, has not been previously reported. In a subject with Hodgkin lymphoma and subsequent low-grade glioma, we identified t(5;18)(q35.1;q21.2), disrupting both SLIT3 and DCC, genes previously implicated in both glioma and lymphoma.
conclusionThese examples suggest that implementing clinical WGS in the diagnostic workup of patients with novel but apparently balanced translocations may reveal unanticipated disruption of disease-associated genes and aid in prediction of the clinical phenotype.
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