id:"swepub:oai:gup.ub.gu.se/303839"
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03225naa a2200421 4500 | |
| 001 | oai:gup.ub.gu.se/303839 | |
| 003 | SwePub | |
| 008 | 240528s2021 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://gup.ub.gu.se/publication/3038392 URI |
| 024 | 7 | a https://doi.org/10.1002/ajmg.a.620812 DOI |
| 040 | a (SwePub)gu | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Kallionpaa, R. A.4 aut |
| 245 | 1 0 | a Circulating free DNA in the plasma of individuals with neurofibromatosis type 1 |
| 264 | c 2021-01-22 | |
| 264 | 1 | b Wiley,c 2021 |
| 520 | a 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 6.6-78.6) among individuals with NF1 and 15.9 ng/ml (range 4.8-47.0) among controls (p = .369). Individuals with NF1 who also had plexiform neurofibroma (pNF) showed non-significantly elevated cfDNA concentration compared to individuals with NF1 and without known pNF (median 25.4 vs. 18.8 ng/ml, p = .122). The effect of NF1 on cfDNA seems to be relatively small and NF1 is therefore unlikely to hamper the use of cfDNA-based assays. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
| 653 | a cancer predisposition syndrome | |
| 653 | a cancer screening | |
| 653 | a circulating free DNA | |
| 653 | a neurofibromatosis type 1 | |
| 653 | a plasma DNA | |
| 653 | a Genetics & Heredity | |
| 700 | 1 | a Ahramo, K.4 aut |
| 700 | 1 | a Aaltonen, M.4 aut |
| 700 | 1 | a Pennanen, P.4 aut |
| 700 | 1 | a Peltonen, J.4 aut |
| 700 | 1 | a Peltonen, Sirkku,d 1964u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för dermatologi och venereologi,Institute of Clinical Sciences, Department of Dermatology and Venereology4 aut0 (Swepub:gu)xpelsi |
| 710 | 2 | a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för dermatologi och venereologi4 org |
| 773 | 0 | t American Journal of Medical Genetics Part Ad : Wileyg 185:4, s. 1098-1104q 185:4<1098-1104x 1552-4825x 1552-4833 |
| 856 | 4 | u https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.62081 |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/303839 |
| 856 | 4 8 | u https://doi.org/10.1002/ajmg.a.62081 |
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