{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T05:33:14Z","timestamp":1769751194376,"version":"3.49.0"},"reference-count":53,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2024,8,30]],"date-time":"2024-08-30T00:00:00Z","timestamp":1724976000000},"content-version":"vor","delay-in-days":36,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Korean Government","award":["NRF-2021R1C1C1013706"],"award-info":[{"award-number":["NRF-2021R1C1C1013706"]}]},{"DOI":"10.13039\/100016275","name":"Seoul National University Bundang Hospital","doi-asserted-by":"publisher","award":["14\u20132018-0013"],"award-info":[{"award-number":["14\u20132018-0013"]}],"id":[{"id":"10.13039\/100016275","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016275","name":"Seoul National University Bundang Hospital","doi-asserted-by":"publisher","award":["18\u20132024-0005"],"award-info":[{"award-number":["18\u20132024-0005"]}],"id":[{"id":"10.13039\/100016275","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Microsatellite instability (MSI), a phenomenon caused by deoxyribonucleic acid (DNA) mismatch repair system deficiencies, is an important biomarker in cancer research and clinical diagnostics. MSI detection often involves next-generation sequencing data, with many studies focusing on DNA. Here, we introduce a novel approach by measuring microsatellite lengths directly from ribonucleic acid sequencing (RNA-seq) data and comparing its distribution to detect MSI. Our findings reveal distinct instability patterns between MSI-high (MSI-H) and microsatellite stable samples, indicating the efficacy of RNA\u2013based MSI detection. Additionally, microsatellites in the 3\u2032-untranslated regions showed the greatest predictive value for MSI detection. Notably, this efficacy extends to detecting MSI-H samples even in tumors not commonly associated with MSI. Our approach highlights the utility of RNA-seq data in MSI detection, facilitating more precise diagnostics through the integration of various biological data.<\/jats:p>","DOI":"10.1093\/bib\/bbae423","type":"journal-article","created":{"date-parts":[[2024,8,30]],"date-time":"2024-08-30T03:20:13Z","timestamp":1724988013000},"source":"Crossref","is-referenced-by-count":2,"title":["Detecting microsatellite instability by length comparison of microsatellites in the 3\u2032 untranslated region with RNA-seq"],"prefix":"10.1093","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0464-3834","authenticated-orcid":false,"given":"Jin-Wook","family":"Choi","sequence":"first","affiliation":[{"name":"Department of Health Science and Technology , Seoul National University, 1 Gwanak-ro, Gwanak-gu, 08826 Seoul, Republic of Korea"}]},{"given":"Jin-Ok","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Health Science and Technology , Seoul National University, 1 Gwanak-ro, Gwanak-gu, 08826 Seoul, Republic of Korea"}]},{"given":"Sejoon","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Health Science and Technology , Seoul National University, 1 Gwanak-ro, Gwanak-gu, 08826 Seoul, Republic of Korea"},{"name":"Department of Pathology and Translational Medicine , Seoul National University Bundang Hospital, Seoul National University College of Medicine, 82 Gumi-ro 173beon-gil, Bundang-gu, 13620 Seongnam, Republic of Korea"},{"name":"Precision Medicine Center , Seoul National University Bundang Hospital, 82 Gumi-ro, Bundang-gu, 13620 Seongnam, Republic of Korea"},{"name":"Department of Genomic Medicine , Seoul National University Bundang Hospital, 82 Gumi-ro, Bundang-gu, 13620 Seongnam, Republic of Korea"}]}],"member":"286","published-online":{"date-parts":[[2024,8,29]]},"reference":[{"key":"2024083003200196800_ref1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1056\/NEJMp038099","article-title":"Microsatellite instability","volume":"349","author":"Chapelle","year":"2003","journal-title":"NEJM"},{"key":"2024083003200196800_ref2","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1126\/science.8484121","article-title":"Clues to the pathogenesis of familial colorectal cancer","volume":"260","author":"Aaltonen","year":"1993","journal-title":"Science"},{"key":"2024083003200196800_ref3","doi-asserted-by":"crossref","first-page":"305","DOI":"10.2353\/jmoldx.2006.050092","article-title":"Comparison of the microsatellite instability analysis system and the Bethesda panel for the determination of microsatellite instability in colorectal cancers","volume":"8","author":"Murphy","year":"2006","journal-title":"J Mol Diagn"},{"key":"2024083003200196800_ref4","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1038\/nrclinonc.2009.237","article-title":"Microsatellite instability in colorectal cancer-the stable evidence","volume":"7","author":"Vilar","year":"2010","journal-title":"Nat Rev Clin Oncol"},{"key":"2024083003200196800_ref5","first-page":"5248","article-title":"A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer","volume":"58","author":"Boland","year":"1998","journal-title":"Cancer Res"},{"key":"2024083003200196800_ref6","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1093\/jnci\/86.16.1216","article-title":"Microsatellite instability in sporadic endometrial carcinoma","volume":"86","author":"Duggan","year":"1994","journal-title":"JNCI"},{"key":"2024083003200196800_ref7","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1158\/1078-0432.CCR-15-1678","article-title":"Microsatellite instability as a biomarker for PD-1 blockade","volume":"22","author":"Dudley","year":"2016","journal-title":"Clin Cancer Res"},{"key":"2024083003200196800_ref8","volume-title":"FDA grants accelerated approval to pembrolizumab for first tissue\/site agnostic indication","author":"Food, U. and D. 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