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BRAF
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Interpretation 2244
Tier 2
BRAF
Variants
BRAF F468S
Primary Sites
Thyroid
Tumor Types
Papillary Carcinoma
Interpretation

BRAF is part of the mitogen-activated protein kinase (MAPK) signaling pathway and is frequently mutated in papillary thyroid carcinoma (PTC). The BRAF V600E-like PTC's (BVL) and the RAS-like PTC (RL-PTC) are fundamentally different in their genomic, epigenomic, and proteomic profiles. The BRAF V600E mutation in Exon 15 is the most common BRAF mutation has been reported in 45% of patients with PTC. BRAF F468S is a rare somatic variant in Exon 11 and is located in the tyrosine kinase domain of the BRAF protein. The clinicopathologic effects of this variant as a somatic mutation in cancer has not been established in the literature. However, a mutation at the same location, F468C, has been shown to be a gain of function mutation. This variant has also been previously reported as a pathogenic germline variant in ClinVar associated with Cardio-facio-cutaneous syndrome. These results should be interpreted in the clinical context.

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
  4. Ikenoue T, et al. Different effects of point mutations within the B-Raf glycine-rich loop in colorectal tumors on mitogen-activated protein/extracellular signal-regulated kinase kinase/extracellular signal- regulated kinase and nuclear factor kappaB pathway and cellular transformation. Cancer Res. 2004 May 15;64(10):3428-35
  5. ClinVar BRAF F468S: https://www.ncbi.nlm.nih.gov/clinvar/variation/40366/
Last updated: 2018-05-02 20:00:05 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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