WCMC logo
PMKB
  • WCMC logoPMKB
  • Genes
  • Variants
  • Interpretations
  • Tumor Types
  • Primary Sites
  • Activity
  • Login
BRAF
  • Information
  • View History
  • Pending Review
BRAF K601E
GeneBRAF
Variantmissense
Amino Acid ChangeK601E
Transcript ID (GRCh37/hg19)ENST00000288602
Codon601
Exon15
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

Sort by
Page
Show

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
Read More
Tier 1
BRAF
Variants
BRAF K601E
Primary Sites
Thyroid
Tumor Types
Papillary Carcinoma
Follicular Carcinoma
Interpretation

B-RAF is a member of the RAF-family of kinases which plays an important role in the RAS-RAF-MEK-ERK mitotic signaling pathway. Eighty percent of all thyroid cancers are papillary thyroid carcinomas (PTCs). 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 and other well-differentiated thyroid neoplasms or nodular goiters. The K601E mutation results in an amino acid substitution at position 601 in BRAF, occurring within the highly conserved motif of the kinase domain. This is the second most common BRAF mutation found in thyroid nodules after V600E. Unlike BRAF V600E, K601E is strongly associated with follicular-patterned cancer, particularly with the encapsulated follicular variant of PTC, and may also be found in follicular thyroid carcinomas. Overall, BRAF K601E mutant tumors may show better clinical outcomes than BRAF V600E positive tumors.

Last updated: 2016-04-17 17:35:27 UTC
Read More
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
Read More
Tier 1
BRAF
Variants
BRAF K601E
Primary Sites
Blood
Bone Marrow
Tumor Types
Chronic Lymphocytic Leukemia
Interpretation

RAS/RAF path mutation has been identified in 5-9 % of CLL patients. 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: 2018-04-18 14:42:13 UTC
Read More
Tier 2
BRAF
Variants
BRAF K601E
Primary Sites
Kidney
Ureter
Bladder
Tumor Types
Urothelial Carcinoma
Interpretation

BRAF is a member of the RAF-family of kinases which plays an important role in the RAS-RAF-MEK-ERK mitotic signaling pathway. 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. BRAF mutations are infrequent in urothelial carcinoma and are identified in 3-5% of cases. Preclinical studies are investigating the use of MEK and RAS inhibitors in BRAF K601E mutant cell lines. The clinicopathologic effects of BRAF in this cancer type remain to be fully elucidated.

Last updated: 2018-05-24 20:14:52 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