{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T10:04:23Z","timestamp":1789639463196,"version":"4.0.0"},"reference-count":5,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T00:00:00Z","timestamp":1736380800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    An increasing number of autosomal recessive forms of adenomatous polyposis have been described, but some in very few cases. Here, we describe a rare case of biallelic germline pathogenic variants in the\n                    <jats:italic>MLH3<\/jats:italic>\n                    gene, implicating it as a potential cause of early colorectal cancer. The patient, a 47\u2010year\u2010old woman, presented with rectal bleeding, leading to the discovery of a malignant rectal tumor and adenomas during colonoscopy. Histopathological examination confirmed adenocarcinoma without microsatellite instability, and genetic testing identified two likely pathogenic frameshift variants in\n                    <jats:italic>MLH3<\/jats:italic>\n                    located in trans. These findings contribute to the expanding knowledge of\n                    <jats:italic>MLH3<\/jats:italic>\n                    \u2010related polyposis and colorectal cancer and underscore the need for further research into the gene's broader implications, including its potential role in cancer and infertility pathways.\n                  <\/jats:p>","DOI":"10.1111\/cge.14689","type":"journal-article","created":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T23:53:53Z","timestamp":1736466833000},"page":"480-482","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A Novel Case of Biallelic\n                    <scp>\n                      <i>MLH3<\/i>\n                    <\/scp>\n                    Variants in a Patient With Rectal Cancer and Polyps"],"prefix":"10.1111","volume":"107","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7356-3109","authenticated-orcid":false,"given":"Katrine M.","family":"Johannesen","sequence":"first","affiliation":[{"name":"Department of Genetics Copenhagen University Hospital, Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John G\u00e1sdal","family":"Karstensen","sequence":"additional","affiliation":[{"name":"Danish Polyposis Register, Gastrounit, Copenhagen University Hospital\u2014Amager and Hvidovre  Hvidovre Denmark"},{"name":"Department of Clinical Medicine Copenhagen University  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas \u00d8rslev","family":"Rasmussen","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma Adine Hoxer","family":"Scott","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulf","family":"Birkedal","sequence":"additional","affiliation":[{"name":"Department of Genetics Copenhagen University Hospital, Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas v. O.","family":"Hansen","sequence":"additional","affiliation":[{"name":"Department of Genetics Copenhagen University Hospital, Rigshospitalet  Copenhagen Denmark"},{"name":"Department of Clinical Medicine Copenhagen University  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Casper","family":"Steenholdt","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Herlev Hospital  Herlev Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Marie","family":"Jelsig","sequence":"additional","affiliation":[{"name":"Department of Genetics Copenhagen University Hospital, Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,1,9]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/71643"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0405-x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0529-7"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng931"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-021-00907-z"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14689","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T03:30:48Z","timestamp":1741750248000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14689"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,9]]},"references-count":5,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1111\/cge.14689"],"URL":"https:\/\/doi.org\/10.1111\/cge.14689","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14689\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14689\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14689\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14689\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14689\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,9]]},"assertion":[{"value":"2024-10-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-17","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}