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| http://purl.uniprot.org/citations/34156092 | http://www.w3.org/2000/01/rdf-schema#comment | "Well differentiated liposarcoma (WD-LPS) is a relatively rare tumour, with fewer than 50 cases occurring per year in the UK. These tumours are both chemotherapy- and radiotherapy-resistant and present a significant treatment challenge requiring radical surgery. Little is known of the molecular landscape of these tumours and no current targets for molecular therapy exist. We aimed to carry out a comprehensive molecular characterisation of WD-LPS via whole genome sequencing, RNA sequencing, and methylation array analysis. A recurrent mutation within exon 1 of FOXD4L3 was observed (chr9:70,918,189A>T; c.322A>T; p.Lys108Ter). Recurrent mutations were also observed in Wnt signalling, immunity, DNA repair, and hypoxia-associated genes. Recurrent amplification of HGMA2 was observed, although this was in fact part of a general amplification of the region around this gene. Recurrent gene fusions in HGMA2, SDHA, TSPAN31, and MDM2 were also observed as well as consistent rearrangements between chromosome 6 and chromosome 12. Our study has demonstrated a recurrent mutation within FOXD4L3, which shows evidence of interaction with the PAX pathway to promote tumourigenesis. © 2021 The Authors. The Journal of Pathology published by John Wiley & Sons, Ltd. on behalf of The Pathological Society of Great Britain and Ireland."xsd:string |
| http://purl.uniprot.org/citations/34156092 | http://purl.org/dc/terms/identifier | "doi:10.1002/path.5749"xsd:string |
| http://purl.uniprot.org/citations/34156092 | http://purl.uniprot.org/core/author | "Beggs A.D."xsd:string |
| http://purl.uniprot.org/citations/34156092 | http://purl.uniprot.org/core/author | "Desai A."xsd:string |
| http://purl.uniprot.org/citations/34156092 | http://purl.uniprot.org/core/author | "Morton D.G."xsd:string |
| http://purl.uniprot.org/citations/34156092 | http://purl.uniprot.org/core/author | "James J."xsd:string |
| http://purl.uniprot.org/citations/34156092 | http://purl.uniprot.org/core/author | "Tyler R."xsd:string |
| http://purl.uniprot.org/citations/34156092 | http://purl.uniprot.org/core/author | "Taniere P."xsd:string |
| http://purl.uniprot.org/citations/34156092 | http://purl.uniprot.org/core/author | "Stockton J.D."xsd:string |
| http://purl.uniprot.org/citations/34156092 | http://purl.uniprot.org/core/author | "Gourevitch D."xsd:string |
| http://purl.uniprot.org/citations/34156092 | http://purl.uniprot.org/core/author | "Dilworth M.P."xsd:string |
| http://purl.uniprot.org/citations/34156092 | http://purl.uniprot.org/core/author | "Blakeway D."xsd:string |
| http://purl.uniprot.org/citations/34156092 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/34156092 | http://purl.uniprot.org/core/name | "J Pathol"xsd:string |
| http://purl.uniprot.org/citations/34156092 | http://purl.uniprot.org/core/pages | "132-140"xsd:string |
| http://purl.uniprot.org/citations/34156092 | http://purl.uniprot.org/core/title | "The molecular landscape of well differentiated retroperitoneal liposarcoma."xsd:string |
| http://purl.uniprot.org/citations/34156092 | http://purl.uniprot.org/core/volume | "255"xsd:string |
| http://purl.uniprot.org/citations/34156092 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/34156092 |
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