{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:21:38Z","timestamp":1747146098356,"version":"3.40.5"},"reference-count":42,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,22]],"date-time":"2021-01-22T00:00:00Z","timestamp":1611273600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007634","name":"Ida Montinin S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007634","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008413","name":"Instrumentariumin Tiedes\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008413","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007083","name":"Orionin Tutkimuss\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007083","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003125","name":"Suomen Kulttuurirahasto","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003125","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010711","name":"Sy\u00f6p\u00e4s\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010711","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurofibromatosis type 1 (NF1) is an autosomal dominant syndrome whose characteristic manifestations include benign neurofibromas, yet NF1 is also associated with a high risk of cancer. Measurements of circulating free plasma DNA (cfDNA) are gaining wider applicability in cancer diagnostics, targeting of therapy, and monitoring of therapeutic response. Individuals with NF1 are likely to be followed up using this method, but the effects of NF1 and neurofibromas on cfDNA levels are not known. We studied peripheral blood samples from 19 adults with NF1 and 12 healthy controls. The cfDNA was isolated from plasma with QIAamp Circulating Nucleic Acid Kit and quantified using the Qubit 2.0 Fluorometer. The cfDNA concentration of each sample was normalized relative to the plasma protein concentration. The normalized median concentration of cfDNA in plasma was 19.3 ng\/ml (range 6.6\u201378.6) among individuals with NF1 and 15.9 ng\/ml (range 4.8\u201347.0) among controls (<jats:italic>p<\/jats:italic> = .369). Individuals with NF1 who also had plexiform neurofibroma (pNF) showed non\u2010significantly elevated cfDNA concentration compared to individuals with NF1 and without known pNF (median 25.4 vs. 18.8\u2009ng\/ml, <jats:italic>p<\/jats:italic> = .122). The effect of NF1 on cfDNA seems to be relatively small and NF1 is therefore unlikely to hamper the use of cfDNA\u2010based assays.<\/jats:p>","DOI":"10.1002\/ajmg.a.62081","type":"journal-article","created":{"date-parts":[[2021,1,23]],"date-time":"2021-01-23T06:41:53Z","timestamp":1611384113000},"page":"1098-1104","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Circulating free <scp>DNA<\/scp> in the plasma of individuals with neurofibromatosis type 1"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7512-2980","authenticated-orcid":false,"given":"Roope A.","family":"Kallionp\u00e4\u00e4","sequence":"first","affiliation":[{"name":"Department of Cell Biology and Anatomy Institute of Biomedicine, University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaisa","family":"Ahramo","sequence":"additional","affiliation":[{"name":"Department of Cell Biology and Anatomy Institute of Biomedicine, University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianna","family":"Aaltonen","sequence":"additional","affiliation":[{"name":"Department of Cell Biology and Anatomy Institute of Biomedicine, University of Turku  Turku Finland"},{"name":"Turku University of Applied Sciences  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5880-9924","authenticated-orcid":false,"given":"Paula","family":"Pennanen","sequence":"additional","affiliation":[{"name":"Department of Cell Biology and Anatomy Institute of Biomedicine, University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5732-4167","authenticated-orcid":false,"given":"Juha","family":"Peltonen","sequence":"additional","affiliation":[{"name":"Department of Cell Biology and Anatomy Institute of Biomedicine, University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0990-1430","authenticated-orcid":false,"given":"Sirkku","family":"Peltonen","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology University of Turku  Turku Finland"},{"name":"Department of Dermatology Turku University Hospital  Turku Finland"},{"name":"Department of Dermatology and Venereology Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg  Gothenburg Sweden"},{"name":"Department of Dermatology and Venereology Region V\u00e4stra G\u00f6taland Sahlgrenska University Hospital  Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,1,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2015.1883"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-04-1237"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41698-018-0072-z"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-410X.2006.06352.x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrclinonc.2013.110"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00216-014-7835-3"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0183915"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/cam4.1184"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.4"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-13-1014"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2014.222679"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2011.05.031"},{"key":"e_1_2_9_14_1","first-page":"1659","article-title":"DNA fragments in the blood plasma of cancer patients: Quantitations and evidence for their origin from apoptotic and necrotic cells","volume":"61","author":"Jahr S.","year":"2001","journal-title":"Cancer Research"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1373\/49.6.1028"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.215"},{"key":"e_1_2_9_17_1","first-page":"1","article-title":"Mutation detection using plasma circulating tumor DNA (ctDNA) in a cohort of asymptomatic adults at increased risk for cancer","volume":"9","author":"Kammesheidt A.","year":"2018","journal-title":"International Journal of Molecular Epidemiology and Genetics"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.2217\/cns-2016-0024"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0769-6"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.4174\/astr.2014.86.3.136"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23929"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2003.026013"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-41593-4"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12885-016-2992-8"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1988.00520290115023"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djy105"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.32187"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0035711"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc3066"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.2012.535"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.049346"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/annonc\/mdx504"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1448.011"},{"key":"e_1_2_9_34_1","first-page":"675","article-title":"Evaluation of fluorescence\u2010based methods for total vs. amplifiable DNA quantification in plasma of lung cancer patients","volume":"59","author":"Szpechcinski A.","year":"2008","journal-title":"Journal of Physiology and Pharmacology"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3511"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00676-2015"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2006.068577"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2014.465"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2015.65.3576"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2134734"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4119"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(02)00091-8"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.927"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62081","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62081","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62081","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T09:40:33Z","timestamp":1693215633000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62081"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,22]]},"references-count":42,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["10.1002\/ajmg.a.62081"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62081","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2021,1,22]]},"assertion":[{"value":"2020-09-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-26","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}