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Träfflista för sökning "WFRF:(Hoiom Veronica) ;lar1:(liu);hsvcat:3"

Search: WFRF:(Hoiom Veronica) > Linköping University > Medical and Health Sciences

  • Result 1-2 of 2
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1.
  • Tuominen, Rainer, et al. (author)
  • Investigation of a putative melanoma susceptibility locus at chromosome 3q29
  • 2014
  • In: Cancer Genetics. - : Elsevier. - 2210-7762 .- 2210-7770. ; 207:3, s. 70-74
  • Journal article (peer-reviewed)abstract
    • Malignant melanoma, the most fatal form of skin cancer, is currently increasing in incidence in many populations. Approximately 10% of all cases occur in families with an inherited predisposition for melanoma. In Sweden, only a minor portion of such melanoma families carry a mutation in the known melanoma gene CDKN2A, and there is a need to identify additional melanoma susceptibility genes. In a recently performed genome-wide linkage screen, novel loci with suggestive evidence of linkage to melanoma were detected. In this study, we have further analyzed one region on chromosome 3q29. In all, 89 affected and 15 nonaffected family members from 42 melanoma-prone families were genotyped for 34 genetic markers. In a pooled linkage analysis of all 42 families, we detected significant evidence of linkage, with a maximum heterogeneity logarithm of odds (HLOD) score of 3.1 with 83% of the families contributing to the linkage score. The minimum critical region of linkage (defined by a 1LOD score support interval) maps to chromosome 3q29, spans 3.5 Mb of genomic sequence, and harbors 44 identified genes. Sequence variants within this region have previously been associated with cancer susceptibility. This study reports the presence of a putative novel melanoma susceptibility locus in the Swedish population, a finding that needs to be replicated in an independent study on other individuals with familial melanoma. Sequencing of genes in the region may identify novel melanoma-associated mutations.
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2.
  • Vikingsson, Svante, et al. (author)
  • Simple and cost-effective liquid chromatography-mass spectrometry method to measure dabrafenib quantitatively and six metabolites semi-quantitatively in human plasma
  • 2017
  • In: Analytical and Bioanalytical Chemistry. - : SPRINGER HEIDELBERG. - 1618-2642 .- 1618-2650. ; 409:15, s. 3749-3756
  • Journal article (peer-reviewed)abstract
    • Dabrafenib is an inhibitor of BRAF V600E used for treating metastatic melanoma but a majority of patients experience adverse effects. Methods to measure the levels of dabrafenib and major metabolites during treatment are needed to allow development of individualized dosing strategies to reduce the burden of such adverse events. In this study, an LC-MS/MS method capable of measuring dabrafenib quantitatively and six metabolites semi-quantitatively is presented. The method is fully validated with regard to dabrafenib in human plasma in the range 5-5000 ng/mL. The analytes were separated on a C18 column after protein precipitation and detected in positive electrospray ionization mode using a Xevo TQ triple quadrupole mass spectrometer. As no commercial reference standards are available, the calibration curve of dabrafenib was used for semi-quantification of dabrafenib metabolites. Compared to earlier methods the presented method represents a simpler and more cost-effective approach suitable for clinical studies.
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  • Result 1-2 of 2
Type of publication
journal article (2)
Type of content
peer-reviewed (2)
Author/Editor
Hansson, Johan (2)
Hoiom, Veronica (2)
Olsson, Håkan (1)
Green, Henrik (1)
Enerbäck, Charlotta (1)
Jönsson, Göran B (1)
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Ingvar, Christian (1)
Appelqvist, Frida (1)
Tuominen, Rainer (1)
Vikingsson, Svante (1)
Dahlberg, Jan-Olof (1)
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University
Linköping University  (2)Undo refine
Karolinska Institutet (2)
Lund University (1)
Language
English (2)
Research subject (UKÄ/SCB)
Medical and Health Sciences (2)Undo refine

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