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Editorial Material: Absence of the BRAF V600E mutation in pheochromocytoma in JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, vol 39, issue 6, pp 715-716
Karolinska University Hospital, Sweden.
Karolinska University Hospital, Sweden.
Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences.
University of Lorraine, France.
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2016 (English)In: Journal of Endocrinological Investigation, ISSN 0391-4097, E-ISSN 1720-8386, Vol. 39, no 6, 715-716 p.Article in journal, Editorial material (Other academic) PublishedText
Abstract [en]

Purpose Pheochromocytomas (PCCs) are rare endocrine tumors originating from the adrenal medulla. These tumors display a highly heterogeneous mutation profile, and a substantial part of the causative genetic events remains to be explained. Recent studies have reported presence of the activating BRAF V600E mutation in PCC, suggesting a role for BRAF activation in tumor development. This study sought to further investigate the occurrence of the BRAF V600E mutation in these tumors. Methods A cohort of 110 PCCs was screened for the BRAF V600E mutation using direct Sanger sequencing. Results All cases investigated displayed wild-type sequences at nucleotide 1799 in the BRAF gene. Conclusions Taken together with all previously screened tumors up to date, only 1 BRAF V600E mutation has been found among 361 PCCs. These findings imply that the BRAF V600E mutation is a rare event in pheochromocytoma.

Place, publisher, year, edition, pages
SPRINGER , 2016. Vol. 39, no 6, 715-716 p.
Keyword [en]
Adrenal; Pheochromocytoma; Sequencing; BRAF; Mutation
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:liu:diva-129146DOI: 10.1007/s40618-015-0420-6ISI: 000375920000013PubMedID: 26710756OAI: oai:DiVA.org:liu-129146DiVA: diva2:936061
Available from: 2016-06-13 Created: 2016-06-13 Last updated: 2016-06-13

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Welander, JennySöderkvist, PeterGimm, Oliver
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Division of Cell BiologyFaculty of Medicine and Health SciencesDepartment of Clinical Pathology and Clinical GeneticsDivision of Clinical SciencesDepartment of Surgery in Linköping
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Journal of Endocrinological Investigation
Medical Genetics

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