{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:51:21Z","timestamp":1786978281032,"version":"build-2736575974"},"reference-count":54,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,7,9]],"date-time":"2020-07-09T00:00:00Z","timestamp":1594252800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["pathsocjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pathology"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Tongue squamous cell carcinoma (TSCC) is an aggressive group of tumors characterized by high rates of regional lymph node metastasis and local recurrence. Emerging evidence has revealed genetic variations of TSCC across different geographical regions due to the impact of multiple risk factors such as chewing betel\u2010quid. However, we know little of the mutational processes of TSCC in the Chinese population without the history of chewing betel\u2010quid\/tobacco. To explore the mutational spectrum of this disease, we performed whole\u2010exome sequencing of sample pairs, comprising tumors and normal tissue, from 82 TSCC patients. In addition to identifying seven previously known TSCC\u2010associated genes (\n                    <jats:italic>TP53<\/jats:italic>\n                    ,\n                    <jats:italic>CDKN2A<\/jats:italic>\n                    ,\n                    <jats:italic>PIK3CA<\/jats:italic>\n                    ,\n                    <jats:italic>NOTCH1<\/jats:italic>\n                    ,\n                    <jats:italic>ASXL1<\/jats:italic>\n                    ,\n                    <jats:italic>USH2A<\/jats:italic>\n                    , and\n                    <jats:italic>CSMD3<\/jats:italic>\n                    ), the analysis revealed six new genes (\n                    <jats:italic>GNAQ<\/jats:italic>\n                    ,\n                    <jats:italic>PRG4<\/jats:italic>\n                    ,\n                    <jats:italic>RP1<\/jats:italic>\n                    ,\n                    <jats:italic>ZNF16<\/jats:italic>\n                    ,\n                    <jats:italic>NBEA<\/jats:italic>\n                    , and\n                    <jats:italic>PTPRC<\/jats:italic>\n                    ) that had not been reported previously in TSCC. Our\n                    <jats:italic>in vitro<\/jats:italic>\n                    experiments identified\n                    <jats:italic>ZNF16<\/jats:italic>\n                    for the first time as a solid tumor associated gene to promote malignancy of TSCC cells. We also identified a microRNA (miR\u2010585\u20105p) encoded by the 5q35.1 region and characterized it as a tumor suppressor by targeting\n                    <jats:italic>SOX9<\/jats:italic>\n                    . At least one non\u2010silent mutation of genes involved in the 10 canonical oncogenic pathways (Notch, RTK\u2010RAS, PI3K, Wnt, Cell cycle, p53, Myc, Hippo, TGF\n                    <jats:bold>\u03b2<\/jats:bold>\n                    , and Nrf2) was found in 82.9% of cases. Collectively, our data extend the spectrum of TSCC mutations and define novel diagnosis markers and potential clinical targets for TSCC. \u00a9 2020 Pathological Society of Great Britain and Ireland. Published by John Wiley &amp; Sons, Ltd.\n                  <\/jats:p>","DOI":"10.1002\/path.5467","type":"journal-article","created":{"date-parts":[[2020,5,20]],"date-time":"2020-05-20T07:42:18Z","timestamp":1589960538000},"page":"353-364","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Exome sequencing identifies new somatic alterations and mutation patterns of tongue squamous cell carcinoma in a Chinese population"],"prefix":"10.1002","volume":"251","author":[{"given":"Heyu","family":"Zhang","sequence":"first","affiliation":[{"name":"Central Laboratory Peking University School and Hospital of Stomatology  Beijing PR China"},{"name":"National Clinical Research Center for Oral Diseases Peking University School and Hospital of Stomatology  Beijing PR China"},{"name":"Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions Chinese Academy of Medical Sciences (2019RU034)  Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongmei","family":"Song","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Molecular Oncology, National Cancer Center\/Cancer Hospital Chinese Academy of Medical Sciences and Peking Union Medical College  Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenglin","family":"Du","sequence":"additional","affiliation":[{"name":"China National Center for Bioinformation &amp; National Genomics Data Center, Beijing Institute of Genomics Chinese Academy of Sciences  Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefen","family":"Li","sequence":"additional","affiliation":[{"name":"Central Laboratory Peking University School and Hospital of Stomatology  Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianyun","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Oral 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