{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:26:41Z","timestamp":1745468801098,"version":"3.40.4"},"reference-count":15,"publisher":"S. Karger AG","issue":"7-8","license":[{"start":{"date-parts":[[2019,10,28]],"date-time":"2019-10-28T00:00:00Z","timestamp":1572220800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,10,28]],"date-time":"2019-10-28T00:00:00Z","timestamp":1572220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuroendocrinology"],"published-print":{"date-parts":[[2020]]},"abstract":"<b><i>Background:<\/i><\/b> Neuroendocrine tumors (NETs) rarely occur in the mediastinum and their etiology and pathogenesis are still unclear. <b><i>Objectives:<\/i><\/b> This study assessed inherited or de novo mutations in familial mediastinal NETs. <b><i>Method:<\/i><\/b> DNA samples from 4 patients were subjected to the whole-exome sequencing, and Sanger sequencing was used to identify Deleted in malignant brain tumor 1 (<i>DMBT1<\/i>) mutations in all 45 family members. <b><i>Results:<\/i><\/b> All patients showed a germline <i>DMBT1<\/i> mutation at 4971C. Sanger sequencing data showed that 4 NETs and 2 carriers in the first patient\u2019s family and 2 NETs and 4 carriers in the second patient\u2019s family, respectively, had this<i> DMBT1<\/i> mutation. The in vitro data showed that the ectopic expression of DMBT1 reduced tumor cell viability and migration by arresting the G1\/S phase of the cell cycle. <b><i>Conclusions:<\/i><\/b> We identified a germline missense mutation in DMBT1<sup>D1657E<\/sup> as a susceptibility gene for familial mediastinal NETs.<\/jats:p>","DOI":"10.1159\/000504369","type":"journal-article","created":{"date-parts":[[2019,10,28]],"date-time":"2019-10-28T22:00:33Z","timestamp":1572300033000},"page":"714-720","source":"Crossref","is-referenced-by-count":2,"title":["Germline Missense Mutation of Deleted in Malignant Brain Tumor 1 (<b><i>DMBT1<\/i><\/b>) in Familial Mediastinal Neuroendocrine Cancer and in vitro Effects in Thyroid Cancer Cells"],"prefix":"10.1159","volume":"110","author":[{"given":"Ning","family":"Qu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong-Liang","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tian","family":"Liao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheng-Lin","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Duo","family":"Wen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia-Qian","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ting-ting","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li-Tao","family":"Han","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ben","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Long","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing-Hai","family":"Ji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2019,10,28]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1309\/L38W-8P9X-X142-3N78"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1177\/021849230601400229"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-4975(02)03547-6"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.21037\/jtd.2017.02.02"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197204)29:4<1075::AID-CNCR2820290457>3.0.CO;2-O"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22183"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.lungcan.2012.12.001"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-32"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1165\/ajrcmb.20.4.3439"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.21.13743"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6690035"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2559.2008.03200.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2407-4-46"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.11072"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.10096"}],"container-title":["Neuroendocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/504369","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/504369","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:10:09Z","timestamp":1745424609000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000504369"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,28]]},"references-count":15,"journal-issue":{"issue":"7-8","published-online":{"date-parts":[[2020,7,7]]},"published-print":{"date-parts":[[2020,7,14]]}},"URL":"https:\/\/doi.org\/10.1159\/000504369","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.11416575","asserted-by":"subject"}]},"ISSN":["0028-3835","1423-0194"],"issn-type":[{"type":"print","value":"0028-3835"},{"type":"electronic","value":"1423-0194"}],"subject":[],"published":{"date-parts":[[2019,10,28]]}}}