Source: BEFREE

Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE <i>BRAF</i> V600E colorectal cancers are insensitive to RAF inhibitor monotherapy due to feedback reactivation of receptor tyrosine kinase signaling. 28951457

2018

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE Alterations in <i>MEK1/2</i> occur in cancers, both in the treatment-naïve state and following targeted therapies, most notably BRAF and MEK inhibitors in <i>BRAF</i>-V600E-mutant melanoma and colorectal cancer. 28655712

2018

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE AKT is critically involved in the antagonism of BRAF inhibitor sorafenib against dabrafenib in colorectal cancer cells harboring both wild-type and mutant (V600E) BRAF genes. 28536078

2017

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE Prognostic value of BRAF V600E mutation and microsatellite instability in Japanese patients with sporadic colorectal cancer. 27672042

2017

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE In the present review, we describe the road leading to the discovery of RAS mutations, BRAF V600E mutation, and microsatellite instability role in colorectal cancer; second, we discuss some of the possible major pitfalls of biomarker research, and lastly, we give new suggestions for future research in this field. 27341592

2017

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE In marked contrast to the results seen in patients with BRAF V600E-mutant melanoma, single-agent vemurafenib did not show meaningful clinical activity in patients with BRAF V600E mutant CRC. 26460303

2016

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE We screened 535 formalin-fixed paraffin-embedded CRC tissue samples for the BRAF V600E mutation, and selected 7 BRAF-mutated and 7 KRAS-mutated CRCs that were tumor size, stage, and microsatellite status-matched. 27082577

2016

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE Common BRAF(V600E)-directed pathway mediates widespread epigenetic silencing in colorectal cancer and melanoma. 26787892

2016

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE The BRAF V600E mutation has been associated with worse survival in MSS CRC. 26376292

2016

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE Approximately 5-10% of metastatic colorectal cancers harbor a BRAF-V600E mutation, which is correlated with resistance to EGFR-targeted therapies and worse clinical outcome. 26160848

2016

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE We evaluated miR-31-5p expression and gene mutations [KRAS (codon 61 or 146), NRAS (codon 12, 13, or 61), and BRAF (V600E)] in the EGFR downstream pathway in 102 CRC patients harboring KRAS (codon 12 or 13) wild-type who were treated with anti-EGFR therapeutics. 25472647

2016

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE These findings support BGB-283 as a potent antitumor drug candidate with clinical potential for treating colorectal cancer harboring BRAF(V600E) mutation. 26208524

2016

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE We hypothesized it would be more commonly methylated and inactivated in serrated pathway colorectal cancers that are hallmarked by a BRAF V600E mutation and a methylator phenotype, compared to traditional pathway cancers that are BRAF wild type. 25613750

2016

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE BRAF V600E inhibition stimulates AMP-activated protein kinase-mediated autophagy in colorectal cancer cells. 26750638

2016

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE VE1 immunohistochemistry predicts BRAF V600E mutation status and clinical outcome in colorectal cancer. 26496026

2016

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE The BRAF V600E mutation is specifically associated with sporadic MSI+ CRCs with methylated MLH1, but is not associated with Lynch syndrome-related CRCs. 25701956

2016

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE In vitro studies using CRC cell lines showed an association between MGL ligand expression and the presence of BRAF(V600E). 26172302

2016

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE Concomitant with such properties, EBI-907 exhibits potent and selective cytotoxicity against a broader range of BRAF(V600E)-dependent cell lines including certain colorectal cancer cell lines with innate resistance to Vemurafenib. 26810733

2016

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE The MSI-high status has also been described in sporadic colorectal cancer (CRC) associated with BRAF gene mutation (V600E); this mutation was not present in LS-associated cancers. 26096739

2016

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups. 26216840

2016

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE A correlation between MLH1 promoter methylation, specifically the 'C' region, and BRAF V600E status has been reported in CRC studies. 23880961

2015

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE The patient with SSL as index lesions who developed CRC harbored V600E BRAF mutation in both index lesion and the carcinoma. 25708741

2015

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE Performance comparison of three BRAF V600E detection methods in malignant melanoma and colorectal cancer specimens. 25318602

2015

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE The MSS/BRAF(V600E) subtype was associated with increased disease-specific mortality even in stage I-II CRC. 25973534

2015

dbSNP: rs113488022
rs113488022
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.800 GeneticVariation BEFREE BRAF V600E mutation and KRAS codon 13 mutations predict poor survival in Chinese colorectal cancer patients. 25367198

2015