{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T21:21:52Z","timestamp":1776892912523,"version":"3.51.2"},"reference-count":20,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2020,6,17]],"date-time":"2020-06-17T00:00:00Z","timestamp":1592352000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,9,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Polymerase proofreading-associated polyposis, caused by germline variants in the exonuclease domains of POLD1 and POLE, is a dominantly inherited rare condition characterized by oligo-adenomatous polyposis and increased risk of colorectal cancer, endometrial cancer and brain tumours. We report the first Japanese case of polymerase proofreading-associated polyposis carrying a POLD1 variant. The proband was a Japanese woman who had undergone resections of early colorectal carcinomas repeatedly and a hysterectomy with bilateral oophorectomy for endometrial cancer, all of which were diagnosed within 2\u00a0years after the first colectomy at 49\u00a0year old. Colonoscopic examinations demonstrated at least 14 non-cancerous polypoid lesions, some of which were histologically confirmed to be adenoma. Multigene panel sequencing identified a missense variant in POLD1 (c.1433G&amp;gt;A). Although her relatives did not undergo genetic testing, her father and paternal grandfather died of brain tumours at 53 and ~30\u00a0years of age, respectively.<\/jats:p>","DOI":"10.1093\/jjco\/hyaa090","type":"journal-article","created":{"date-parts":[[2020,5,22]],"date-time":"2020-05-22T11:51:54Z","timestamp":1590148314000},"page":"1080-1083","source":"Crossref","is-referenced-by-count":8,"title":["The first case report of polymerase proofreading-associated polyposis in POLD1 variant, c.1433G&amp;gt;A p.S478N, in Japan"],"prefix":"10.1093","volume":"50","author":[{"given":"Tetsuya","family":"Ito","sequence":"first","affiliation":[{"name":"Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Kawagoe"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Nomizu","sequence":"additional","affiliation":[{"name":"Department of Surgery, Hoshi General Hospital, Koriyama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidetaka","family":"Eguchi","sequence":"additional","affiliation":[{"name":"Diagnosis and Therapeutics of Intractable Disease, Juntendo University Graduate School of Medicine, Tokyo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nao","family":"Kamae","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Saitama Medical Center, Saitama Medical University, Kawagoe"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sariya","family":"Dechamethakun","sequence":"additional","affiliation":[{"name":"Diagnosis and Therapeutics of Intractable Disease, Juntendo University Graduate School of Medicine, Tokyo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinori","family":"Akama","sequence":"additional","affiliation":[{"name":"Department of Genetic Counseling, Hoshi General Hospital, Koriyama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Goichi","family":"Endo","sequence":"additional","affiliation":[{"name":"Department of Surgery, Fukushima Red Cross Hospital, Fukushima"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kokichi","family":"Sugano","sequence":"additional","affiliation":[{"name":"Oncogene Research Unit\/Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Utsunomiya"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teruhiko","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasushi","family":"Okazaki","sequence":"additional","affiliation":[{"name":"Diagnosis and Therapeutics of Intractable Disease, Juntendo University Graduate School of Medicine, Tokyo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideyuki","family":"Ishida","sequence":"additional","affiliation":[{"name":"Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Kawagoe"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,6,17]]},"reference":[{"key":"2020090501523815200_ref1","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/nrc.2015.12","article-title":"A panoply of errors: polymerase proofreading domain mutations in cancer","volume":"16","author":"Rayner","year":"2016","journal-title":"Nat Rev Cancer"},{"key":"2020090501523815200_ref2","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1038\/ng.2503","article-title":"Germline Mutations Affecting the Proofreading Domains of POLE and POLD1 Predispose to Colorectal Adenomas and Carcinomas.","volume":"45","author":"Palles","year":"2013","journal-title":"Nat 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