{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T19:59:21Z","timestamp":1792094361980,"version":"4.4.0"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,4,25]],"date-time":"2018-04-25T00:00:00Z","timestamp":1524614400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>In a previous whole exome sequencing of patients from 41 families with Hodgkin lymphoma, we identified two families with distinct heterozygous rare coding variants in <jats:italic><jats:styled-content style=\"fixed-case\">POT<\/jats:styled-content>1<\/jats:italic> (D224N and Y36H), both in a highly conserved region of the gene. <jats:styled-content style=\"fixed-case\">POT<\/jats:styled-content>1 D224N mutant did not bind to a single\u2010stranded telomere oligonucleotide <jats:italic>in\u00a0vitro<\/jats:italic> suggesting the mutation perturbs <jats:styled-content style=\"fixed-case\">POT<\/jats:styled-content>1's ability to bind to the telomeric G\u2010rich overhang. Human <jats:styled-content style=\"fixed-case\">HT<\/jats:styled-content>1080 cells expressing <jats:italic><jats:styled-content style=\"fixed-case\">POT<\/jats:styled-content>1<\/jats:italic> D224N and lymphoblastoid cells carrying Y36H both showed increased telomere length and fragility in comparison to wild type cells. This strongly suggests that mutant <jats:italic><jats:styled-content style=\"fixed-case\">POT<\/jats:styled-content>1<\/jats:italic> causes chromosome instability and may play a role in lymphomagenesis in these families.<\/jats:p>","DOI":"10.1111\/bjh.15203","type":"journal-article","created":{"date-parts":[[2018,4,25]],"date-time":"2018-04-25T11:54:05Z","timestamp":1524657245000},"page":"372-377","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":58,"title":["Germline mutations in <i>Protection of Telomeres 1<\/i> in two families with Hodgkin lymphoma"],"prefix":"10.1111","volume":"181","author":[{"given":"Mary L.","family":"McMaster","sequence":"first","affiliation":[{"name":"Clinical Genetics Branch Division of Cancer Epidemiology and Genetics National Cancer Institute; NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chongkui","family":"Sun","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Gerontology National Institute on Aging\/National Institute of Health Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria \u00a0T.","family":"Landi","sequence":"additional","affiliation":[{"name":"Integrative Tumor Epidemiology Branch Division of Cancer Epidemiology and Genetics National Cancer Institute; NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon A.","family":"Savage","sequence":"additional","affiliation":[{"name":"Clinical Genetics Branch Division of Cancer Epidemiology and Genetics National Cancer Institute; NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa\u00a0","family":"Rotunno","sequence":"additional","affiliation":[{"name":"Epidemiology and Genomics Research Program Division of Cancer Control and Population Sciences National Cancer Institute, NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00a0Xiaohong \u00a0R.","family":"Yang","sequence":"additional","affiliation":[{"name":"Integrative Tumor Epidemiology Branch Division of Cancer Epidemiology and Genetics National Cancer Institute; NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristine","family":"Jones","sequence":"additional","affiliation":[{"name":"Cancer Genomics Research Laboratory Division of Cancer Epidemiology and Genetics National Cancer Institute; NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00a0Aur\u00e9lie","family":"Vogt","sequence":"additional","affiliation":[{"name":"Cancer Genomics Research Laboratory Division of Cancer Epidemiology and Genetics National Cancer Institute; NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Hutchinson","sequence":"additional","affiliation":[{"name":"Cancer Genomics Research Laboratory Division of Cancer Epidemiology and Genetics National Cancer Institute; NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Zhu","sequence":"additional","affiliation":[{"name":"Cancer Genomics Research Laboratory Division of Cancer Epidemiology and Genetics National Cancer Institute; NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingyi","family":"Wang","sequence":"additional","affiliation":[{"name":"Cancer Genomics Research Laboratory Division of Cancer Epidemiology and Genetics National Cancer Institute; NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belynda","family":"Hicks","sequence":"additional","affiliation":[{"name":"Cancer Genomics Research Laboratory Division of Cancer Epidemiology and Genetics National Cancer Institute; NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anand","family":"Thirunavukarason","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Gerontology National Institute on Aging\/National Institute of Health Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00a0Douglas R.","family":"Stewart","sequence":"additional","affiliation":[{"name":"Clinical Genetics Branch Division of Cancer Epidemiology and Genetics National Cancer Institute; NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stella","family":"Koutros","sequence":"additional","affiliation":[{"name":"Occupational and Environmental Epidemiology Branch Division of Cancer Epidemiology and Genetics National Cancer Institute; 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