Journal
HUMAN PATHOLOGY
Volume 40, Issue 6, Pages 827-833Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.humpath.2008.11.003
Keywords
BRAF mutations; Follicular variant papillary thyroid carcinoma; Kinase domain; Modeling
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Funding
- National Cancer Institute [CA-16672]
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To assess the mutational status of BRAE in FVPTC, we directly sequenced the genomic DNA of 30 primary FVPTC samples. BRAF mutations were found in only 4 (13%) tumors. We also identified a previously unknown (novel) mutation in the activation kinase domain of the BRAF (A598V), replacing alanine with valine. Functional analysis showed that this mutation led to the up-regulation of the BRAF kinase activity and its downstream signaling factors. The effect of this mutation on the structural formation of the protein is highlighted. Our results confirm the infrequency of BRAF (V600E) mutation in FVPTC and identify a novel (A598V) mutation of this gene. (C) 2009 Elsevier Inc. All rights reserved.
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