2014
DOI: 10.1038/ng.2921
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Recurrent PTPRB and PLCG1 mutations in angiosarcoma

Abstract: Angiosarcoma is an aggressive malignancy that arises spontaneously or secondarily to ionising radiation or chronic lymphoedema1. Previous work has identified aberrant angiogenesis, including occasional somatic mutations in angiogenesis signalling genes, as a key driver of angiosarcoma1. Here, we employed whole genome, 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 … Show more

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Cited by 266 publications
(251 citation statements)
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“…Known driver genes from the cancer gene census in which we identified missense mutations included MAP3K5 and NRAS (p.Q61K; Figure 3; see also supplementary material, Table S3). Two adenomas carried missense mutations in the phospholipase C, γ2 gene ( PLCG2 ), which is related to PLCG1 recently described as a driver gene in angiosarcoma 27. We also found three adenomas carrying protein‐changing KRAS mutations; MAP polyp 1B4S carried a p.G12C, while FAP polyps 12A11S and 9A5S carried p.A146T and p.G13D changes, respectively.…”
Section: Resultsmentioning
confidence: 54%
“…Known driver genes from the cancer gene census in which we identified missense mutations included MAP3K5 and NRAS (p.Q61K; Figure 3; see also supplementary material, Table S3). Two adenomas carried missense mutations in the phospholipase C, γ2 gene ( PLCG2 ), which is related to PLCG1 recently described as a driver gene in angiosarcoma 27. We also found three adenomas carrying protein‐changing KRAS mutations; MAP polyp 1B4S carried a p.G12C, while FAP polyps 12A11S and 9A5S carried p.A146T and p.G13D changes, respectively.…”
Section: Resultsmentioning
confidence: 54%
“…For cardiac angiosarcomas, these studies described several numerical abnormalities and KRAS mutations in 2 of 3 and p53 mutations in 2 of 4 cases analyzed (12). For angiosarcomas of other locations, recently recurrent mutations in PLCg1 and PTPRB were detected (13).…”
Section: Introductionmentioning
confidence: 99%
“…Thus, point mutations in the human PLCG1 gene have been linked to secondary, radiation-associated angiosarcoma [13] and to cutaneous T cell lymphoma [14]. Two mouse models of autoimmunity and autoinflammation, designated Ali5 and Ali14, have been described, which are caused by gain-of-function point mutations of PLC 2 , D 993 G and Y…”
mentioning
confidence: 99%