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BRAF
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Interpretation 226
Tier 1
BRAF
Variants
BRAF T599_V600insV
Primary Sites
Thyroid
Tumor Types
Papillary Carcinoma
Interpretation

This mutation, namely a 1795GTT insertion, results in BRAF V599Ins. Kinase assays on BRAF V599Ins and BRAF V600E show increased enzymatic activity, increased phosphorylation of MEK, MAPK and RSK and a high transformation rate in the cells compared to wild type BRAF. Thus, BRAF V599Ins, similar to BRAF V600E, is a 'gain of function' mutation, with constitutive activation, which accounts for its role in papillary cancer of the thyroid.

Citations
  1. Moretti S, et al. Biochemical and molecular characterization of the novel BRAF(V599Ins) mutation detected in a classic papillary thyroid carcinoma. Oncogene 2006;25(30):4235-40
Last updated: 2016-06-07 02:19:43 UTC
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