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 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

2015

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 Assessment of BRAF V600E Status in Colorectal Carcinoma: Tissue-Specific Discordances between Immunohistochemistry and Sequencing. 26438153

2015

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

2015

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

2015

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE BRAF V600E mutation in colorectal cancer is associated with right-sided tumours and iron deficiency anaemia. 25862899

2015

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

2015

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE AKT1 E17K in Colorectal Carcinoma Is Associated with BRAF V600E but Not MSI-H Status: A Clinicopathologic Comparison to PIK3CA Helical and Kinase Domain Mutants. 25714871

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

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE VE1 immunohistochemistry predicts BRAF V600E mutation status and clinical outcome in colorectal cancer. 26496026

2015

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Here we report a patient with rectal cancer who carried the novel BRAF mutation VK600-601E, which has analogous molecular functions to those of the conventional BRAF mutation V600E, and may have potential as a prognostic marker for colorectal cancer (CRC). 25636897

2015

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE The prevalence of dMMR and BRAF V600E in Thai sporadic CRC patients was 15% and 11%, respectively. 25624727

2015

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE To understand how oncogenic B-Raf contributes to carcinogenesis, in particular to aspects other than cellular proliferation and survival, we generated three isogenic human colorectal carcinoma cell line models in which we can dynamically modulate the expression of the B-Raf(V600E) oncoprotein. 25381152

2015

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Lung adenocarcinomas showed significantly higher non-p.V600E mutations (86%) than did colorectal cancers (23%) and melanomas (34%). 26386083

2015

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE In this review, clinicopathologic characteristics associated with BRAF-mutant tumors will be highlighted, and the prognostic and predictive implications of a BRAF V600E mutation will be discussed with a focus on melanoma, thyroid carcinoma and colorectal carcinoma. 25744437

2015

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

2015

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

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 A correlation between MLH1 promoter methylation, specifically the 'C' region, and BRAF V600E status has been reported in CRC studies. 23880961

2014

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE When subclassified by combined BRAF V600E mutation and MMR status, loss of ARID1A expression was found most commonly in CRCs with the BRAF V600E mutated, MMR- deficient phenotype (58 of 232 cases, 25%, P < .01). 24925223

2014

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE BRAF V600E mutation is a poor prognostic factor in MSI-H metastatic CRC. 24585723

2014

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE High prevalence of deficient mismatch repair phenotype and the V600E BRAF mutation in elderly patients with colorectal cancer. 25176643

2014

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation UNIPROT Multitarget stool DNA testing for colorectal-cancer screening. 25006736

2014