{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T15:50:46Z","timestamp":1783612246203,"version":"3.55.0"},"reference-count":33,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,3,24]],"date-time":"2022-03-24T00:00:00Z","timestamp":1648080000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100021820","name":"Stichting Prinses M\u00e1xima Centrum","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100021820","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brit J Clinical Pharma"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:sec><jats:title>Aims<\/jats:title><jats:p>Studies implicated a role for a genetic variant in <jats:italic>CEP72<\/jats:italic> in vincristine\u2010induced peripheral neuropathy. This study aims to evaluate this association in a cohort of brain tumour patients, to perform a cross\u2010disease meta\u2010analysis and explore the protein\u2010coding region of <jats:italic>CEP72<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In total, 104 vincristine\u2010treated brain tumour patients were genotyped for <jats:italic>CEP72<\/jats:italic> rs924607, and sequenced for the protein\u2010coding region. Data regarding patient and treatment characteristics, and peripheral neuropathy, were collected. Logistic regression and meta\u2010analysis were performed for rs924607 replication. A weighted burden analysis was applied to evaluate impact of overall genetic variation in <jats:italic>CEP72<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Analysis of 24 cases and 80 controls did not show a significant association between <jats:italic>CEP72<\/jats:italic> rs924607 and neuropathy (odds ratio, OR [95% confidence interval, CI] 2.076 [0.359\u201311.989], <jats:italic>P<\/jats:italic>\u00a0=\u2009.414). When combined with 8 cohorts (1095 cancer patients), a significant increase in risk for neuropathy was found for patients with a TT genotype (OR [95% CI] 2.15 [1.35\u20133.43], <jats:italic>P<\/jats:italic>\u00a0=\u2009.001). Additionally, a missense variant (rs12522955) was significantly associated (OR [95% CI] 2.3 [1.2\u20134.4], <jats:italic>P<\/jats:italic>\u00a0=\u2009.041) and patients with severe neuropathy carried more impactful variants in <jats:italic>CEP72<\/jats:italic> coding regions (<jats:italic>P<\/jats:italic>\u00a0=\u2009.039).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The association of <jats:italic>CEP72<\/jats:italic> rs924607 in vincristine\u2010induced neuropathy was not confirmed in a cohort of brain tumour patients, but did contribute to its suggested effect when combined in a cross\u2010disease meta\u2010analysis. The importance of other genetic variations in <jats:italic>CEP72<\/jats:italic> on vincristine\u2010induced neuropathy was demonstrated. This study contributes to evidence of the importance of genetic variants in <jats:italic>CEP72<\/jats:italic> in development of vincristine\u2010induced toxicity, and provides guidance for future prospective studies.<\/jats:p><\/jats:sec>","DOI":"10.1111\/bcp.15267","type":"journal-article","created":{"date-parts":[[2022,2,12]],"date-time":"2022-02-12T02:58:53Z","timestamp":1644634733000},"page":"3463-3473","source":"Crossref","is-referenced-by-count":8,"title":["Contribution of common and rare genetic variants in <i>CEP72<\/i> on vincristine\u2010induced peripheral neuropathy in brain tumour patients"],"prefix":"10.1111","volume":"88","author":[{"given":"Marije J.","family":"Klumpers","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Radboud Institute for Molecular Life Science Radboud university medical center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annouk C. A. M.","family":"Brand","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud university medical center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Hakobjan","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud university medical center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Gattuso","sequence":"additional","affiliation":[{"name":"Pediatric Oncology Unit Fondazione IRCCS Istituto Nazionale dei Tumori  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Schiavello","sequence":"additional","affiliation":[{"name":"Pediatric Oncology Unit Fondazione IRCCS Istituto Nazionale dei Tumori  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Terenziani","sequence":"additional","affiliation":[{"name":"Pediatric Oncology Unit Fondazione IRCCS Istituto Nazionale dei Tumori  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maura","family":"Massimino","sequence":"additional","affiliation":[{"name":"Pediatric Oncology Unit Fondazione IRCCS Istituto Nazionale dei Tumori  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corrie E. M.","family":"Gidding","sequence":"additional","affiliation":[{"name":"Princess M\u00e1xima Center for Pediatric Oncology  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henk\u2010Jan","family":"Guchelaar","sequence":"additional","affiliation":[{"name":"Department of Clinical Pharmacy &amp; Toxicology Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. Maroeska W. M.","family":"te Loo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Radboud Institute for Health Sciences Radboud university medical center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8796-2031","authenticated-orcid":false,"given":"Marieke J. H.","family":"Coenen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud Institute for Health Sciences Radboud university medical center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,3,24]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1040\u20108428(98)00023\u20107"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098\u2010009\u20100254\u20103"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.critrevonc.2017.04.004"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022\u2010510X(70)90013\u20104"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01697985"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.14740\/jocmr1856w"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2015.0894"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03259853"},{"issue":"11","key":"e_1_2_11_10_1","first-page":"2416","article-title":"Vincristine\u2010induced peripheral neuropathy in pediatric cancer patients","volume":"6","author":"Mora E","year":"2016","journal-title":"Am J Cancer Res"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/cpt.1179"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/cpt.506"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1055\/a\u20101213\u20105995"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/FPC.0000000000000191"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12185\u2010020\u201002832\u2010x"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/FPC.0000000000000345"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/cpt.1324"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.2217\/pgs\u20102016\u20100189"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/cpt.1651"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/clpt.2012.96"},{"key":"e_1_2_11_21_1","volume-title":"The Nordic Cochrane Centre","author":"Review Manager (RevMan) [Computer Program]","year":"2014"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks596"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv402"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059\u2010016\u20100974\u20104"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.2147\/AABC.S33049"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010018\u20100272\u20106"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.1.308"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1517\/14656566.4.6.889"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20061451"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12114"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/cpt.1304"}],"container-title":["British Journal of Clinical Pharmacology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bcp.15267","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/bcp.15267","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/bpspubs.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bcp.15267","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T14:21:49Z","timestamp":1692714109000},"score":1,"resource":{"primary":{"URL":"https:\/\/bpspubs.onlinelibrary.wiley.com\/doi\/10.1111\/bcp.15267"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,24]]},"references-count":33,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1111\/bcp.15267"],"URL":"https:\/\/doi.org\/10.1111\/bcp.15267","archive":["Portico"],"relation":{},"ISSN":["0306-5251","1365-2125"],"issn-type":[{"value":"0306-5251","type":"print"},{"value":"1365-2125","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,24]]}}}