chr7:140453136:> Detail (hg19) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,453,136-140,453,137
hg38 chr7:140,753,336-140,753,337 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
melanoma Refametinib C Predictive Supports Resistance Somatic 2 23434733 Detail
melanoma Dabrafenib B Predictive Supports Sensitivity/Response Somatic 4 22608338 Detail
skin melanoma Trametinib,Dabrafenib A Predictive Supports Sensitivity/Response Somatic 5 25399551 Detail
colorectal cancer Dabrafenib,Trametinib B Predictive Supports Sensitivity/Response Somatic 2 26392102 Detail
melanoma Cobimetinib,Vemurafenib B Predictive Supports Sensitivity/Response Somatic 4 25265494 Detail
lung non-small cell carcinoma Vemurafenib B Predictive Supports Sensitivity/Response Somatic 3 26287849 Detail
Langerhans-cell histiocytosis Vemurafenib B Predictive Supports Sensitivity/Response Somatic 3 26287849 Detail
colorectal cancer Vemurafenib B Predictive Supports Resistance Somatic 3 26287849 Detail
colorectal cancer Cetuximab,Vemurafenib B Predictive Does Not Support Sensitivity/Response Somatic 2 26287849 Detail
melanoma Trametinib B Predictive Supports Sensitivity/Response Somatic 3 22663011 Detail
melanoma B Diagnostic Supports Positive Somatic 4 21166657 Detail
cholangiocarcinoma Vemurafenib B Predictive Supports Sensitivity/Response Somatic 4 26287849 Detail
melanoma Vemurafenib,Cobimetinib A Predictive Supports Sensitivity/Response Somatic 5 27480103 Detail
colorectal cancer Encorafenib,Cetuximab B Predictive Supports Sensitivity/Response Somatic 4 28363909 Detail
colorectal cancer Encorafenib,Alpelisib,Cetuximab B Predictive Supports Sensitivity/Response Somatic 3 28363909 Detail
melanoma Trametinib,Dabrafenib B Predictive Supports Sensitivity/Response Somatic 5 28891408 Detail
melanoma Trametinib,Dabrafenib B Predictive Supports Sensitivity/Response Somatic 5 25265492 Detail
melanoma Cobimetinib,Vemurafenib B Predictive Supports Sensitivity/Response Somatic 3 25037139 Detail
melanoma Binimetinib,Encorafenib A Predictive Supports Sensitivity/Response Somatic 5 29573941 Detail
colorectal cancer Vemurafenib,Cetuximab,Irinotecan B Predictive Supports Sensitivity/Response Somatic 3 Detail
colorectal cancer Panitumumab B Predictive Supports Resistance Somatic 3 23325582 Detail
melanoma Dabrafenib,Trametinib B Predictive Supports Sensitivity/Response Somatic 3 23020132 Detail
melanoma MEK Inhibitor RO4987655 B Predictive Supports Sensitivity/Response Somatic 2 24947927 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Phase I trial of the mitogen-activated protein kinase 1/2 inhibitor BAY 86-9766. 2 of 2 patients wit... CIViC Evidence Detail
In the NCT00880321 trial using mutant BRAF inhibitor dabrafenib in solid tumors, 10 cases of melanom... CIViC Evidence Detail
The Combi-v (NCT01597908) open-label, randomized phase 3 trial had 704 patients with metastatic mela... CIViC Evidence Detail
In clinical trial NCT01072175, 43 patients with BRAF V600 metastatic colorectal cancer (CRC) receive... CIViC Evidence Detail
In a randomized phase 3 study, previously untreated advanced or metastatic BRAF V600 mutation-positi... CIViC Evidence Detail
Patients with BRAF-V600 mutated cancers were identified (n=122) and clinical response to vemurafenib... CIViC Evidence Detail
Patients with BRAF-V600 mutated cancers were identified (n=122) and clinical response to vemurafenib... CIViC Evidence Detail
Patients with BRAF-V600 mutated cancers were identified (n=122) and clinical response to vemurafenib... CIViC Evidence Detail
Patients with BRAF-V600 mutated cancers were identified (n=122) and subsequently underwent targeted ... CIViC Evidence Detail
Patients who had histologically confirmed, unresectable stage IIIC or IV cutaneous melanoma with a V... CIViC Evidence Detail
BRAF mutations are associated with melanoma arising in non-chronic sun damaged skin and with superfi... CIViC Evidence Detail
Eight patients with BRAF V600 (7 with V600E, 1 with V600 unknown) mutated cholangiocarcinoma receive... CIViC Evidence Detail
In this double-blind, randomized, placebo-controlled, multicentre study, adult patients with histolo... CIViC Evidence Detail
In a Phase Ib Dose-Escalation Study of Encorafenib and Cetuximab, Twenty-six patients with refractor... CIViC Evidence Detail
In a Phase Ib Dose-Escalation Study of Encorafenib, Cetuximab and Alpelisib, Twenty-eight patients w... CIViC Evidence Detail
Combination Dabrafenib and Trametinib treatment was assessed for adjuvant treatment of stage III res... CIViC Evidence Detail
In this Phase III trial (NCT01584648 COMBI-d), 423 previously untreated patients with unrescectable ... CIViC Evidence Detail
In this Phase 1b study, 129 patients with unresectable or metastatic melanoma were verified for BRAF... CIViC Evidence Detail
In a phase 3 trial, patients with melanoma with BRAF V600E or V600K mutation were randomly assigned ... CIViC Evidence Detail
A randomized clinical trial was done with metastatic colorectal cancer (mCRC) patients (50 in the co... CIViC Evidence Detail
In metastatic colorectal cancer patients with wildtype KRAS, BRAF mutations were associated with poo... CIViC Evidence Detail
This was a Phase I and II study (NCT01072175) of dabrafenib and trametinib combination therapy vs. d... CIViC Evidence Detail
Phase I expansion and pharmacodynamic study of oral MEK inhibitor RO4987655. Partial response was ob... CIViC Evidence Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr7:140,453,136-140,453,137
Variant Type
snv
Variant (CIViC) (CIViC Variant)
V600
Transcript 1 (CIViC Variant)
ENST00000288602.6
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/17
Summary (CIViC Variant)
BRAF mutations of the valine 600 residue have been shown to be recurrent in many cancer types. Of the V600 mutations, V600E is the most widely researched. V600 mutations as a whole have been correlated to poorer prognosis in colorectal and papilarry thyroid cancers. V600 mutations have also been shown to confer sensitivity to the BRAF inhibitor dabrafenib. For a more detailed summary, click the individual mutations.
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