WCMC logo
PMKB
  • WCMC logoPMKB
  • Genes
  • Variants
  • Interpretations
  • Tumor Types
  • Primary Sites
  • Activity
  • Login
BRAF
  • Information
  • View History
  • Pending Review
BRAF F468S
GeneBRAF
Variantmissense
Amino Acid ChangeF468S
Transcript ID (GRCh37/hg19)ENST00000288602
Codon468
Exon11
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

Sort by
Page
Show

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.

Last updated: 2018-05-02 20:00:05 UTC
Read More
PMKB Bot
  • Genes
  • Variants
  • Interpretations
  • Tumor Types
  • Primary Sites
  • Activity

Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


HELP
User Guide
Video Tutorial
INFO
About
Latest
API
Twitter
CONTACT US
Contact

Englander Institute for Precision Medicine
© Weill Cornell Medicine | Version 1.7.2Privacy PolicyTerms of use