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Journal articles

Absence of the BRAF V600E mutation in pheochromocytoma

Abstract : 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.
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Submitted on : Tuesday, December 19, 2017 - 2:39:35 PM
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O. Paulsson, F. Svahn, J. Welander, L. Brunaud, P. Söderkvist, et al.. Absence of the BRAF V600E mutation in pheochromocytoma. Journal of Endocrinological Investigation, Springer, 2016, 39 (6), pp.715 - 716. ⟨10.1007/s40618-015-0420-6⟩. ⟨hal-01667573⟩



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