{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T10:34:30Z","timestamp":1785321270434,"version":"3.55.0"},"reference-count":54,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,7,14]],"date-time":"2015-07-14T00:00:00Z","timestamp":1436832000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:p>The genetic hallmark of Burkitt lymphoma is the translocation t(8;14)(q24;q32), or one of its light chain variants, resulting in <jats:italic>IG<\/jats:italic>\u2010<jats:italic>MYC<\/jats:italic> juxtaposition. However, these translocations alone are insufficient to drive lymphomagenesis, which requires additional genetic changes for malignant transformation. Recent studies of Burkitt lymphoma using next generation sequencing approaches have identified various recurrently mutated genes including <jats:italic>ID3, TCF3, CCND3<\/jats:italic>, and <jats:italic>TP53<\/jats:italic>. Here, by using similar approaches, we show that <jats:italic>PCBP1<\/jats:italic> is a recurrently mutated gene in Burkitt lymphoma. By whole\u2010genome sequencing, we identified somatic mutations in <jats:italic>PCBP1<\/jats:italic> in 3\/17 (18%) Burkitt lymphomas. We confirmed the recurrence of <jats:italic>PCBP1<\/jats:italic> mutations by Sanger sequencing in an independent validation cohort, finding mutations in 3\/28 (11%) Burkitt lymphomas and in 6\/16 (38%) Burkitt lymphoma cell lines. <jats:italic>PCBP1<\/jats:italic> is an intron\u2010less gene encoding the 356 amino acid poly(rC) binding protein 1, which contains three K\u2010Homology (KH) domains and two nuclear localization signals. The mutations predominantly (10\/12, 83%) affect the KH III domain, either by complete domain loss or amino acid changes. Thus, these changes are predicted to alter the various functions of PCBP1, including nuclear trafficking and pre\u2010mRNA splicing. Remarkably, all six primary Burkitt lymphomas with a <jats:italic>PCBP1<\/jats:italic> mutation expressed MUM1\/IRF4, which is otherwise detected in around 20\u201340% of Burkitt lymphomas. We conclude that <jats:italic>PCBP1<\/jats:italic> mutations are recurrent in Burkitt lymphomas and might contribute, in cooperation with other mutations, to its pathogenesis. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.22268","type":"journal-article","created":{"date-parts":[[2015,7,14]],"date-time":"2015-07-14T23:24:48Z","timestamp":1436916288000},"page":"555-564","source":"Crossref","is-referenced-by-count":25,"title":["The <i>PCBP1<\/i> gene encoding poly(rc) binding protein i is recurrently mutated in <scp>B<\/scp>urkitt lymphoma"],"prefix":"10.1002","volume":"54","author":[{"given":"Rabea","family":"Wagener","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, Christian\u2010Albrechts\u2010University Kiel and University Hospital Schleswig\u2010Holstein Campus Kiel Kiel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sietse M.","family":"Aukema","sequence":"additional","affiliation":[{"name":"Institute of Human 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Leipzig  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Loeffler","sequence":"additional","affiliation":[{"name":"Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maciej","family":"Rosolowski","sequence":"additional","affiliation":[{"name":"Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"L\u00f3pez","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Christian\u2010Albrechts\u2010University Kiel and University Hospital Schleswig\u2010Holstein Campus Kiel Kiel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"M\u00f6ller","sequence":"additional","affiliation":[{"name":"Institute of Pathology, Universit\u00e4tsklinikum Ulm Ulm 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Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan H.","family":"Bernhart","sequence":"additional","affiliation":[{"name":"Transcriptome Bioinformatics, LIFE Research Center for Civilization Diseases, University of Leipzig Leipzig Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve","family":"Hoffmann","sequence":"additional","affiliation":[{"name":"Transcriptome Bioinformatics, LIFE Research Center for Civilization Diseases, University of Leipzig Leipzig Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Rosenstiel","sequence":"additional","affiliation":[{"name":"Institute of Clinical Molecular Biology, University Hospital Schleswig\u2010Holstein Campus Kiel\/Christian\u2010Albrechts University Kiel Kiel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Schilhabel","sequence":"additional","affiliation":[{"name":"Institute of Clinical Molecular 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