BRAF V600E - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

BRAF V600E

(BRAF Val600Glu)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.876 (probably damaging)
    Web search results (42000 hits -- see all)
  • BRAF-V600E is not involved in the colorectal tumorigenesis of ...
    BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with ... Moreover, BRAF mutations proved to be absent in tumors from hereditary nonpolyposis ...
    www.ncbi.nlm.nih.gov/pubmed/15782118
  • Increased cyclin D1 expression can mediate BRAF inhibitor ...
    Increased cyclin D1 expression can mediate BRAF inhibitor resistance in BRAF V600E-mutated melanomas. ... a panel of melanoma cell lines that harbored both a BRAF V600E ...
    www.ncbi.nlm.nih.gov/pubmed/18790768
  • Increased cyclin D1 expression can mediate BRAF inhibitor ...
    BRAF V600E mutation is predictive of. response to BRAF/MEK inhibitors (3), recent clinical ... inhibitor resistance in a subset of BRAF V600E – mutated ...
    www.wistar.org/herlyn/Pub PDFs/2008/Smalley2008-2.pdf
  • BRAF V600E MUTATION
    An oncogenic mutation of BRAF at V600E in exon 15. comprises 80-85% of BRAF mutations, and has been described in a variety of cancers, including ...
    genpathdiagnostics.com/pdftmp/5893-3_2kb30_2010-03-01.pdf
  • BRAF(V600E)
    BRAF(V600E) Significance: Activating mutation found in malignant ... Here we report BRAF somatic missense mutations in 66% of malignant melanomas and at lower ...
    www.kinomescan.com/Services_details/BRAF(V600E).htm
  • Seegene
    Result of 40 FNAB samples using Seeplex® BRAF V600E ACE Detection and RFLP: ... Detection of V600E mutation of the BRAF gene in papillary thyroid carcinoma ...
    www.seegene.com/en/diagnosis/d_030_3.php
  • BRAF V600E Mutation Detection - Mar 2006
    If a BRAF V600E mutation is found in a microsatellite unstable ... A BRAF V600E mutational analysis should be performed when. colorectal tumors are determined to be ...
    aruplab.com/.../BRAF V600E Mutation Detection Mar 2006.pdf
  • BRAF(V600E) mutation and the biology of papillary thyroid ...
    BRAF(V600E) mutation and the biology of papillary thyroid cancer ... BRAF(V600E) mutation is the most frequent genetic alteration in papillary thyroid ...
    erc.endocrinology-journals.org/cgi/content/full/15/1/191
  • EXTENSIVE CLINICAL EXPERIENCE
    Conclusions: Our data suggest that BRAF V600E mutation is as ... a correlation of BRAF V600E with more advanced stage, nodal/distant metastases at ...
    jcem.endojournals.org/cgi/reprint/92/11/4085.pdf
  • 87980 Clinical: BRAF Mutation Analysis (V600E), Tumor
    the BRAF gene (V600E) has been shown to be present in approximately ... and testing for the BRAF V600E mutation can be used to help distinguish ...
    mayomedicallaboratories.com/test-catalog/.../87980

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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