{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:58:25Z","timestamp":1791928705001,"version":"4.3.4"},"reference-count":49,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,2,10]],"date-time":"2016-02-10T00:00:00Z","timestamp":1455062400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"MEXT\/JSPS KAKENHI","award":["25250020"],"award-info":[{"award-number":["25250020"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:p>Extranodal natural killer\/T cell lymphoma (ENKTL) is a rare subtype of lymphoma. Recurrent mutations in the JAK\u2010STAT pathway, recently reported in ENKTL cases, are interesting in terms of both pathogenesis and inhibitor therapy. However, the frequencies of these mutations are low and variable among reports, and other pathognomonic mutations in ENKTL remain to be elucidated. In the present study, targeted capture sequencing of 602 cancer\u2010related genes from 25 frozen ENKTL samples was performed, 11 of which were matched to normal samples. Several recurrent somatic mutations involving <jats:italic>BCOR<\/jats:italic> (32%), <jats:italic>TP53<\/jats:italic> (16%), <jats:italic>DDX3X<\/jats:italic> (12%), <jats:italic>FAT4<\/jats:italic> (8%), <jats:italic>NRAS<\/jats:italic> (8%), <jats:italic>MLL3<\/jats:italic> (12%), and <jats:italic>MIR17HG<\/jats:italic> (8%) were identified. The pattern of <jats:italic>BCOR<\/jats:italic> aberrations (1 nonsense and 5 frame\u2010shift mutations, a mutation leading to a splicing error, and gene loss) suggested that loss of function of <jats:italic>BCOR<\/jats:italic> was the functionally important outcome of such changes. The literature was reviewed and the public data on <jats:italic>BCOR<\/jats:italic> aberrations was reanalyzed and it was found that the aberrations were frequently found in myeloid neoplasms, but, interestingly, were highly specific to ENKTL among lymphoid malignancies. Given the high frequency and pattern of aberration, <jats:italic>BCOR<\/jats:italic> is likely to play an important role in ENKTL pathogenesis as a tumor suppressor gene. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.22348","type":"journal-article","created":{"date-parts":[[2016,1,16]],"date-time":"2016-01-16T18:14:56Z","timestamp":1452968096000},"page":"460-471","source":"Crossref","is-referenced-by-count":111,"title":["Frequent <i>BCOR<\/i> aberrations in extranodal <scp>NK\/T<\/scp>\u2010Cell lymphoma, nasal type"],"prefix":"10.1002","volume":"55","author":[{"given":"Akito","family":"Dobashi","sequence":"first","affiliation":[{"name":"Pathology Project for Molecular Targets, The Cancer Institute Japanese Foundation for Cancer Research Koto Tokyo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoko","family":"Tsuyama","sequence":"additional","affiliation":[{"name":"Division of Pathology, The Cancer Institute Japanese Foundation for Cancer 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