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We categorized 30 primary GBM patients into two groups based on their survival periods: extended survival (over two years,\n                    <jats:italic>N<\/jats:italic>\n                    \u2009=\u200917) and abbreviated survival (under two years,\n                    <jats:italic>N<\/jats:italic>\n                    \u2009=\u200913). For identifying pathogenic or likely pathogenic variants, we leveraged the ClinVar database. The cohort, aged 23 to 66 (median: 53), included 17 patients in Group A (survival &gt;2 years, 10 males, 7 females), and 13 patients in Group B (survival &lt;2 years, 8 males, 5 females), with a 60% to 40% male-to-female ratio. Identified mutations included\n                    <jats:italic>CHEK2<\/jats:italic>\n                    (c.1477\u2009G\u2009&gt;\u2009A, p.E493K),\n                    <jats:italic>IDH1<\/jats:italic>\n                    (c.395\u2009G\u2009&gt;\u2009A, p.R132H), and\n                    <jats:italic>TP53<\/jats:italic>\n                    mutations. Non-coding regions exhibited variants in the\n                    <jats:italic>TERT<\/jats:italic>\n                    promoter (c.-146C\u2009&gt;\u2009T, c.-124C\u2009&gt;\u2009T) and\n                    <jats:italic>TP53<\/jats:italic>\n                    RNA splicing site (c.376-2\u2009A\u2009&gt;\u2009C, c.376-2\u2009A\u2009&gt;\u2009G). While Group A had more mutations, statistical significance wasn\u2019t reached, likely due to sample size. Notably,\n                    <jats:italic>TP53<\/jats:italic>\n                    , and\n                    <jats:italic>ATR<\/jats:italic>\n                    displayed a trend toward significance. Surprisingly,\n                    <jats:italic>TP53<\/jats:italic>\n                    mutations were more prevalent in Group A, contradicting Western findings on poorer GBM prognosis. In Taiwanese GBM patients, bevacizumab usage is linked to improved survival rates, affirming its safety and effectiveness.\n                    <jats:italic>EGFR<\/jats:italic>\n                    mutations are infrequent, suggesting potential distinctions in carcinogenic pathways. Further research on\n                    <jats:italic>EGFR<\/jats:italic>\n                    mutations and amplifications is essential for refining therapeutic approaches.\n                    <jats:italic>TP53<\/jats:italic>\n                    mutations are associated with enhanced survival, but their functional implications necessitate detailed exploration. This study pioneers genetic analysis in Taiwanese GBM patients using NGS, advancing our understanding of their genetic landscape.\n                  <\/jats:p>","DOI":"10.1038\/s41417-024-00746-y","type":"journal-article","created":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T07:02:15Z","timestamp":1709103735000},"page":"894-903","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Genetic mutation patterns among glioblastoma patients in the Taiwanese population \u2013 insights from a single institution retrospective study"],"prefix":"10.1038","volume":"31","author":[{"given":"Yu-Fen","family":"Huang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming-Tsang","family":"Chiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tzu-Hung","family":"Hsiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong-Xiang","family":"Zhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3529-1867","authenticated-orcid":false,"given":"Tse-Yu","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chung-Hsin","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Szu-Yuan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chih-Hsiang","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Yu","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-Ming","family":"Yen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chih-Ming","family":"Lai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun-Peng","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9622-7394","authenticated-orcid":false,"given":"Chiung-Chyi","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng-Yin","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,2,28]]},"reference":[{"key":"746_CR1","doi-asserted-by":"publisher","first-page":"677","DOI":"10.1002\/jmri.28743","volume":"58","author":"YW Park","year":"2023","unstructured":"Park YW, Vollmuth P, Foltyn-Dumitru M, Sahm F, Ahn SS, Chang JH, et al. 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Informed consent was obtained from all subjects or their legal guardians prior to surgery, and the collected samples were promptly frozen. The validation cohort consisted of 254 cases selected from the primary cohort based on the following criteria: (1) availability of follow-up data and samples, and (2) postoperative survival time exceeding 1 month. Between January 2010 and March 2023, tissue specimens were collected from 30 patients diagnosed with GBM. Exclusion criteria included: 1. GBM patients with unconfirmed pathology, 2. GBM patients with spinal involvement, and 3. GBM patients with incomplete data records. All methods strictly adhered to the guidelines and regulations of Taichung Veterans General Hospital and were conducted in accordance with the Declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and informed consent"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}}]}}