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Recurrent PTPRB and PLCG1 mutations in angiosarcoma

Behjati, S; Tarpey, PS; Sheldon, H; Martincorena, I; Van Loo, P; Gundem, G; Wedge, DC; ... Campbell, PJ; + view all (2014) Recurrent PTPRB and PLCG1 mutations in angiosarcoma. Nature Genetics , 46 (4) 376 - 379. 10.1038/ng.2921. Green open access

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Abstract

Angiosarcoma is an aggressive malignancy that arises spontaneously or secondarily to ionizing radiation or chronic lymphoedema. Previous work has identified aberrant angiogenesis, including occasional somatic mutations in angiogenesis signaling genes, as a key driver of angiosarcoma. Here we employed whole-genome, whole-exome and targeted sequencing to study the somatic changes underpinning primary and secondary angiosarcoma. We identified recurrent mutations in two genes, PTPRB and PLCG1, which are intimately linked to angiogenesis. The endothelial phosphatase PTPRB, a negative regulator of vascular growth factor tyrosine kinases, harbored predominantly truncating mutations in 10 of 39 tumors (26%). PLCG1, a signal transducer of tyrosine kinases, encoded a recurrent, likely activating p.Arg707Gln missense variant in 3 of 34 cases (9%). Overall, 15 of 39 tumors (38%) harbored at least one driver mutation in angiogenesis signaling genes. Our findings inform and reinforce current therapeutic efforts to target angiogenesis signaling in angiosarcoma.

Type: Article
Title: Recurrent PTPRB and PLCG1 mutations in angiosarcoma
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/ng.2921
Publisher version: http://dx.doi.org/10.1038/ng.2921
Language: English
Additional information: Copyright © 2014 Nature America, Inc. All rights reserved.
Keywords: Analysis of Variance, Base Sequence, Exome, Hemangiosarcoma, Human Umbilical Vein Endothelial Cells, Humans, Molecular Sequence Data, Mutation, Neovascularization, Pathologic, Phospholipase C gamma, RNA Interference, Receptor-Like Protein Tyrosine Phosphatases, Class 3, Sequence Analysis, RNA, Vascular Endothelial Growth Factor A
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Structural and Molecular Biology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Pathology
URI: https://discovery.ucl.ac.uk/id/eprint/1424767
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