Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779998847
rs779998847
APC
0.700 GeneticVariation UNIPROT Drastic genetic instability of tumors and normal tissues in Turcot syndrome. 9419979

1998

dbSNP: rs387906555
rs387906555
DCC
0.700 GeneticVariation UNIPROT The DCC gene: structural analysis and mutations in colorectal carcinomas. 8188295

1994

dbSNP: rs113488022
rs113488022
0.100 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
0.100 GeneticVariation BEFREE Cyclin-dependent kinase 1 targeting improves sensitivity to radiation in BRAF V600E colorectal carcinoma cells. 29663854

2018

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE In this hospital-based case-control study, the role of MTHFR C677T (rs1801133) and A1298C (rs1801131) genotypes in determining CRC risk were investigated among 362 patients with CRC and an equal number of age- and gender-matched healthy individuals. 29599316

2018

dbSNP: rs4939827
rs4939827
0.100 GeneticVariation BEFREE However none of these studies evaluated the potential association between rs4939827 and CRC risk in Chinese population. 28467803

2018

dbSNP: rs1052133
rs1052133
0.100 GeneticVariation BEFREE The CRC risk was higher in patients with the OGG1 326Ser/Cys + Cys/Cys genotype (OR = 1.38, 95%CI: 1.03-1.85, P = 0.030), particularly high in patients with stage III + IV cancer (OR = 1.48, 95%CI: 1.03-2.13) compared with patients with the Ser/Ser genotype. 27022219

2017

dbSNP: rs113488022
rs113488022
0.100 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
0.100 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
0.100 GeneticVariation BEFREE Prognostic value of BRAF V600E mutation and microsatellite instability in Japanese patients with sporadic colorectal cancer. 27672042

2017

dbSNP: rs121913529
rs121913529
0.100 GeneticVariation BEFREE Moreover, comparison of the survival of patients with tumors harboring G12V/A KRAS mutations with those harboring wild-type KRAS gene revealed that G12V/A KRAS mutations are prognostic biomarker for inferior PFS and OS in patients with mCRC treated with bevacizumab in univariate as well as multivariable analyses. 26662311

2017

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE We genotyped MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) for 498 CRC patients treated with 5-FU-based chemotherapy after receiving surgery. 28044213

2017

dbSNP: rs4939827
rs4939827
0.100 GeneticVariation BEFREE The objective of our investigation is to study the relationship between the rs4939827 SNP in the SMAD7 gene, Mediterranean diet pattern and the risk of colorectal cancer. 29084532

2017

dbSNP: rs4939827
rs4939827
0.100 GeneticVariation BEFREE Are SMAD7 rs4939827 and CHI3L1 rs4950928 polymorphisms associated with colorectal cancer in Egyptian patients? 26779637

2017

dbSNP: rs113488022
rs113488022
0.100 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
0.100 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
0.100 GeneticVariation BEFREE VE1 immunohistochemistry predicts BRAF V600E mutation status and clinical outcome in colorectal cancer. 26496026

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Assessment of BRAF V600E Status in Colorectal Carcinoma: Tissue-Specific Discordances between Immunohistochemistry and Sequencing. 26438153

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Common BRAF(V600E)-directed pathway mediates widespread epigenetic silencing in colorectal cancer and melanoma. 26787892

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF V600E inhibition stimulates AMP-activated protein kinase-mediated autophagy in colorectal cancer cells. 26750638

2016

dbSNP: rs113488022
rs113488022
0.100 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
0.100 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
0.100 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

2016

dbSNP: rs113488022
rs113488022
0.100 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
0.100 GeneticVariation BEFREE The BRAF V600E mutation has been associated with worse survival in MSS CRC. 26376292

2016