{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T06:35:21Z","timestamp":1777790121273,"version":"3.51.4"},"reference-count":32,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Int J Biol Markers"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Oncogenic hotspot mutations in the promoter region of the TERT gene have been identified in several cancer types as being associated with a worse outcome. Additionally, a polymorphism (rs2853669) in the TERTpromoter region was reported to modify the survival of TERT-mutated patients. Our aim is to determine the frequency of c.-124 C&gt;T and c.-146 C&gt;T TERT mutations and to genotype the rs2853669 polymorphism in a series of 68 soft tissue sarcomas (STS) comprising 22 histological subtypes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>PCR was performed, followed by direct sequencing of a fragment of TERT containing the hotspots and the rs2853669.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We found TERTmutations in 4\/68 (5.9%) STSs including 1 pleomorphic liposarcoma (1\/1), 1 dedifferentiated liposarcoma (1\/1) and 2 myxoid liposarcomas (2\/9). The variant C allele of rs2853669 was found in 54.8% (34\/62) of all STSs and in 75% (3\/4) of TERT-mutated cases. TERT mutations were associated with younger age, and the C allele of the rs2853669 was associated with high histological grade (2 and 3). No association was found between TERT mutation status or rs2853669 genotype and patient prognosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We showed that TERT promoter mutation is not a recurrent event in STS and is present in particular histological subtypes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.5301\/jbm.5000168","type":"journal-article","created":{"date-parts":[[2015,10,2]],"date-time":"2015-10-02T07:31:13Z","timestamp":1443771073000},"page":"62-67","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":15,"title":["<i>TERT<\/i>\n                    Promoter Mutations in Soft Tissue Sarcomas"],"prefix":"10.1177","volume":"31","author":[{"given":"Nath\u00e1lia C.","family":"Campanella","sequence":"first","affiliation":[{"name":"Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, S\u00e3o Paulo - Brazil"}]},{"given":"Valter","family":"Penna","sequence":"additional","affiliation":[{"name":"Department of Orthopedy, Barretos Cancer Hospital, Barretos, S\u00e3o Paulo - Brazil"}]},{"given":"Lucas Faria","family":"Abrah\u00e3o-Machado","sequence":"additional","affiliation":[{"name":"Department of Pathology, Barretos Cancer Hospital, Barretos, S\u00e3o Paulo - Brazil"}]},{"given":"Adriana","family":"Cruvinel-Carloni","sequence":"additional","affiliation":[{"name":"Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, S\u00e3o Paulo - Brazil"}]},{"given":"Guilherme","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, S\u00e3o Paulo - Brazil"}]},{"given":"Paula","family":"Soares","sequence":"additional","affiliation":[{"name":"Institute of Molecular Pathology and Immunology of University of Porto (IPATIMUP), Porto - Portugal"},{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, University of Porto, Porto - Portugal"}]},{"given":"Cristovam","family":"Scapulatempo-Neto","sequence":"additional","affiliation":[{"name":"Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, S\u00e3o Paulo - Brazil"},{"name":"Department of Pathology, Barretos Cancer Hospital, Barretos, S\u00e3o Paulo - Brazil"}]},{"given":"Rui M.","family":"Reis","sequence":"additional","affiliation":[{"name":"Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, S\u00e3o Paulo - Brazil"},{"name":"Life and Health Sciences Research Institute (ICVS), Health Sciences School, University of Minho, Braga - Portugal"},{"name":"ICVS\/3B's-PT Government Associate Laboratory, Braga\/Guimara\u00e3es - Portugal"}]}],"member":"179","published-online":{"date-parts":[[2016,2,28]]},"reference":[{"key":"bibr1-jbm.5000168","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.01.095"},{"key":"bibr2-jbm.5000168","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2013.11.005"},{"key":"bibr3-jbm.5000168","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2013.07.001"},{"key":"bibr4-jbm.5000168","doi-asserted-by":"publisher","DOI":"10.1126\/science.1230062"},{"key":"bibr5-jbm.5000168","doi-asserted-by":"publisher","DOI":"10.1126\/science.1229259"},{"key":"bibr6-jbm.5000168","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1303607110"},{"key":"bibr7-jbm.5000168","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1310522110"},{"key":"bibr8-jbm.5000168","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms3185"},{"key":"bibr9-jbm.5000168","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2014.163"},{"key":"bibr10-jbm.5000168","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/nou158"},{"key":"bibr11-jbm.5000168","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.29279"},{"key":"bibr12-jbm.5000168","unstructured":"FletcherCDM BridgeJA HogendoornP MertensF eds. 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