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BRAF
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Interpretation 101
Tier 1
BRAF
Variants
BRAF V600E
BRAF codon(s) 600 any
Primary Sites
Thyroid
Tumor Types
Papillary Carcinoma
Interpretation

Eighty percent of all thyroid cancers are papillary thyroid carcinomas (PTCs). BRAF is part of the mitogen-activated protein kinase (MAPK) signaling pathway and V600E is an activating mutation of BRAF. The BRAF V600E mutation has been reported in 45% of patients with papillary thyroid carcinoma. The BRAF V600E-like PTC's (BVL) and the RAS-like PTC (RL-PTC) are fundamentally different in their genomic, epigenomic, and proteomic profiles. Presence of a BRAF p.Val600Glu (V600E) mutation is highly specific for papillary thyroid carcinoma and is only rarely associated with the follicular variant PTC , other well-differentiated thyroid neoplasms or nodular goiters. The possible prognostic impact of BRAF V600E mutations in papillary carcinoma of the thyroid continues to be studied. FDA approved dabrafenib and trametinib administered together for the treatment of BRAF V600E mutation-positive anaplastic thyroid cancer.

Citations
  1. Yarchoan M, et al. BRAF mutation and thyroid cancer recurrence. J Clin Oncol 2015;33(1):7-8
  2. Davies H, et al. Mutations of the BRAF gene in human cancer. Nature 2002;417(6892):949-54
  3. Cancer Genome Atlas Research Network. Integrated genomic characterization of papillary thyroid carcinoma. Cell 2014;159(3):676-90
Last updated: 2019-04-05 17:25:22 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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