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BRAF E586K
GeneBRAF
Variantmissense
Amino Acid ChangeE586K
DNA Change (Coding Nucleotide)1756G>A
Transcript ID (GRCh37/hg19)ENST00000288602
Codon586
Exon15
Genomic Coordinates (GRCh37/hg19)7:140453179-140453179
COSMIC ID463
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Tier 2
BRAF
Variants
BRAF E586K
Primary Sites
Rectum
Tumor Types
Adenocarcinoma
Interpretation

BRAF is a serine/threonine kinase that plays a key role in the regulation of the mitogen-activated protein kinase (MAPK) cascade. Genetic alterations in BRAF are found in a large percentage of melanomas, thyroid cancers and histiocytic neoplasms as well as a small fraction of lung and colorectal cancers. Somatic mutations in BRAF have been found in up to 10% of all NSCLC, more common in adenocarcinomas. Genetic alterations of BRAF have been identified in 9% of lung adenocarcinomas. E586 is located within the kinase domain of BRAF and E586K mutation has been shown to result in increased kinase activity. The BRAF E586K mutation is likely oncogenic although the predictive and prognostic significance of this mutation needs further study. Correlation with other laboratory and clinical findings is recommended.

Last updated: 2019-01-22 18:34:45 UTC
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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


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