{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T02:39:29Z","timestamp":1782959969074,"version":"3.54.5"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,5,29]],"date-time":"2022-05-29T00:00:00Z","timestamp":1653782400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000048","name":"American Cancer Society","doi-asserted-by":"publisher","award":["RSG\u201017\u2010044\u201001\u2010LIB"],"award-info":[{"award-number":["RSG\u201017\u2010044\u201001\u2010LIB"]}],"id":[{"id":"10.13039\/100000048","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Hematological Oncology"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    To investigate germline predisposition in lymphoma, we performed whole\u2010exome sequencing and discovered a novel variant (c.817\u20101G&gt;T) in programmed cell death 1 ligand 2 (\n                    <jats:italic>PD\u2010L2<\/jats:italic>\n                    ) in a family with early\u2010onset lymphomas and other cancers. The variant was present in the proband with follicular lymphoma and his son with Hodgkin's lymphoma. It was in the terminal splice acceptor site of\n                    <jats:italic>PD\u2010L2<\/jats:italic>\n                    and embedded in a putative enhancer of Janus kinase 2 (\n                    <jats:italic>JAK2<\/jats:italic>\n                    ) and programmed cell death 1 ligand (\n                    <jats:italic>PD\u2010L1<\/jats:italic>\n                    ). We also found that gene expression of\n                    <jats:italic>PD\u2010L2<\/jats:italic>\n                    ,\n                    <jats:italic>PD\u2010L1<\/jats:italic>\n                    , and\n                    <jats:italic>JAK2<\/jats:italic>\n                    was significantly increased. Using 3\u2032 rapid amplification of cDNA ends (3\u2032 RACE), we detected an abnormal\n                    <jats:italic>PD\u2010L2<\/jats:italic>\n                    transcript in the son. Thus, the c.817\u20101G&gt;T variant may result in the elevated\n                    <jats:italic>PD\u2010L2<\/jats:italic>\n                    expression due to the abnormal\n                    <jats:italic>PD\u2010L2<\/jats:italic>\n                    transcript and the elevated\n                    <jats:italic>PD\u2010L1<\/jats:italic>\n                    and\n                    <jats:italic>JAK2<\/jats:italic>\n                    expression due to increased enhancer activity of\n                    <jats:italic>PD\u2010L1<\/jats:italic>\n                    and\n                    <jats:italic>JAK2<\/jats:italic>\n                    . The\n                    <jats:italic>PD\u2010L2<\/jats:italic>\n                    novel variant likely underlies the genetic etiology of the lymphomas in the family. As\n                    <jats:italic>PD\u2010L2<\/jats:italic>\n                    plays critical roles in tumor immunity, identification of\n                    <jats:italic>PD\u2010L2<\/jats:italic>\n                    as a germline predisposition gene may inform personalized immunotherapy in lymphoma patients.\n                  <\/jats:p>","DOI":"10.1002\/hon.3033","type":"journal-article","created":{"date-parts":[[2022,5,25]],"date-time":"2022-05-25T15:17:48Z","timestamp":1653491868000},"page":"475-478","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Exome sequencing identifies\n                    <i>PD\u2010L2<\/i>\n                    as a potential predisposition gene for lymphoma"],"prefix":"10.1002","volume":"40","author":[{"given":"Jianming","family":"Shao","sequence":"first","affiliation":[{"name":"Department of Pathology and Genomic Medicine Houston Methodist Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Pathology and Genomic Medicine Houston Methodist Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco L.","family":"Leung","sequence":"additional","affiliation":[{"name":"Department of Human Genetics The University of Chicago  Chicago Illinois USA"},{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Departments of Pathology and Pediatrics The Ohio State University College of Medicine  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0039-3652","authenticated-orcid":false,"given":"Bailey","family":"Gallinger","sequence":"additional","affiliation":[{"name":"Cancer Genetics Program The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cara","family":"Inglese","sequence":"additional","affiliation":[{"name":"Cancer Genetics Program The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6444-2607","authenticated-orcid":false,"given":"M. Stephen","family":"Meyn","sequence":"additional","affiliation":[{"name":"Cancer Genetics Program The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Center for Human Genomics and Precision Medicine University of Wisconsin  Madison Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Del Gaudio","sequence":"additional","affiliation":[{"name":"Department of Human Genetics The University of Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soma","family":"Das","sequence":"additional","affiliation":[{"name":"Department of Human Genetics The University of Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2714-8940","authenticated-orcid":false,"given":"Zejuan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pathology and Genomic Medicine Houston Methodist Hospital  Houston Texas USA"},{"name":"Department of Human Genetics The University of Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,5,29]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2021.108386"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102016\u201003\u2010643544"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tranon.2020.100811"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2016.66.4482"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/s1097\u20102765(00)80464\u20105"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature14248"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz348"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2016.09.037"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41419\u2010019\u20101497\u20101"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2021.664032"}],"container-title":["Hematological Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/hon.3033","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/hon.3033","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/hon.3033","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T11:22:58Z","timestamp":1692789778000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/hon.3033"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,29]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["10.1002\/hon.3033"],"URL":"https:\/\/doi.org\/10.1002\/hon.3033","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1002\/HON.3033\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/HON.3033\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/HON.3033\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/HON.3033\/v1\/review1","asserted-by":"object"}]},"ISSN":["0278-0232","1099-1069"],"issn-type":[{"value":"0278-0232","type":"print"},{"value":"1099-1069","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,29]]},"assertion":[{"value":"2022-05-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}