Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE In the context of colorectal cancer, we present a method for constructing a surrogate biomarker that is able to predict with high accuracy whether a sample belongs to the "BRAF-positive" group, a high-risk group comprising V600E BRAF mutants and BRAF-mutant-like tumors. 28523274

2017

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE BRAF was mutated in 7.6% (484 of 6353) of colorectal cancer and 9.1% (29 of 317) of SBA samples, but V600E mutations were much less common in SBA, representing only 10.3% (3 of 29) of BRAF-mutated cases. 28617917

2017

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE In 212 RAS wild-type patients, V600E mutation was higher in older patients (9.5% vs. 2.2%, p=0.017), women (9.2% vs. 2.2%, p=0.021) and right-sided CRCs (10.5% vs. 3.4%, p=0.06). dMMR was detected in 7.75% of all stages of CRCs, with the highest dMMR rate of 40% in stage II right-sided colon cancer. 28416767

2017

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE However, the prognostic implications of BRAF V600E mutation and the associated clinicopathological characteristics in CRCs remain controversial. 27914130

2017

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE <i>BRAF</i> V600E colorectal cancers are insensitive to RAF inhibitor monotherapy due to feedback reactivation of receptor tyrosine kinase signaling. 28951457

2017

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Prognostic value of BRAF V600E mutation and microsatellite instability in Japanese patients with sporadic colorectal cancer. 27672042

2017

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE None of the MMRD small bowel adenocarcinomas harbored the BRAF V600E mutation, whereas 60% of MMRD colorectal carcinomas were positive for BRAF V600E with concurrent loss of MLH1 and PMS2 expression. 27258561

2017

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE More c.1799T>A (p.V600E) colorectal cancers were found in the right colon [47% (47/100)], compared with c.1781A>G (p.D594G) colorectal cancers [7% (1/15), <i>P</i> = 3.7 × 10<sup>-03</sup>]. 27815357

2017

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Mutation analysis of 66 arbitrary selected colorectal carcinomas revealed that CD274-positive tumors usually (88%) carried the BRAF V600E mutation. 27813511

2017

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE There were also tendencies toward associations of Fn-high with the BRAF V600E mutation (P = 0.047) and active Crohn-like lymphoid reactions (P = 0.052) in MSI-H CRCs. 28597080

2017

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Identification and Characterization of Small-Molecule Inhibitors to Selectively Target the DFG-in over the DFG-out Conformation of the B-Raf Kinase V600E Mutant in Colorectal Cancer. 27624806

2016

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE The BRAF V600E mutation has been associated with worse survival in MSS CRC. 26376292

2016

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Immunohistochemical detection of the BRAF V600E mutant protein in colorectal cancers in Taiwan is highly concordant with the molecular test. 26588428

2016

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Although BRAF(V600E) mutation is associated with adverse clinical outcomes in patients with colorectal cancer (CRC), response and resistance mechanisms for therapeutic BRAF(V600E) inhibitors remains poorly understood. 26750638

2016

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE In protein extracts (2 mg) from 11 CRC tissue specimens, the MRM assay could measure WT BRAF in all 11 cases (0.32-1.66 ng) and the V600E BRAF in two cases (0.1-0.13 ng; mutant-to-WT ratio, 0.16-0.17). 27497007

2016

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE The aim of this study was to evaluate the concordance between the BRAF (V600E) mutation test and immunohistochemistry (IHC) and to evaluate the diagnostic accuracy of BRAF IHC for colorectal cancer (CRC) through a systematic review, meta-analysis, and diagnostic test accuracy review. 27197524

2016

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Although the presence of the BRAF V600E mutation is indicative of a sporadic cancer, up to 30% to 50% of colorectal carcinomas with MLH1 promoter hypermethylation will lack a BRAF mutation. 27438990

2016

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Common BRAF(V600E)-directed pathway mediates widespread epigenetic silencing in colorectal cancer and melanoma. 26787892

2016

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Our data show that IHC could be used in routine clinical practice as a screening method for BRAF V600E mutant protein detection in CRC patients. 27569082

2016

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Sporadic MSI CRC often harbours BRAF(V600E); however, no consistent data exist regarding targeted treatment approaches in BRAF(wt) MSI CRC. 26001389

2016

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 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

2015

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE In this study, we used an automated immunohistochemistry (IHC) staining coupled with mouse monoclonal anti-BRAF V600E (VE1) primary antibody to screen the BRAF V600E mutation in 779 tumor cases, including 611 colorectal carcinomas (CRC), 127 papillary thyroid carcinomas (PTC) and 41 malignant melanomas. 25784606

2015

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE In vitro studies using CRC cell lines showed an association between MGL ligand expression and the presence of BRAF(V600E). 26172302

2015