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BRAF
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BRAF codon(s) 601 any
GeneBRAF
Variantany
Transcript ID (GRCh37/hg19)ENST00000288602
Codon601
Exon15
Genomic Coordinates (GRCh37/hg19)7:140453132-140453134
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 2
BRAF
Variants
BRAF K601E
BRAF codon(s) 601 any
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in BRAF have been found in 1-4% of all NSCLC most of which are adenocarcinomas. The K601E mutation results in an amino acid substitution at position 601 in BRAF, occurs within the highly conserved motif of the kinase domain. Most mutant BRAF proteins, such as K601E, have increased kinase activity and are transforming in vitro. Preclinical studies suggest that downstream signaling induced by the K601E mutant may be blocked by the BRAF inhibitor, vemurafenib.

Last updated: 2020-07-24 14:51:40 UTC
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Tier 1
BRAF
Variants
BRAF K601E
BRAF codon(s) 601 any
Primary Sites
Unknown
Tumor Types
Melanoma
Interpretation

Drug: Trametinib

Last updated: 2018-04-06 15:09:24 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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