Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517132
rs397517132
0.100 GeneticVariation BEFREE Detection of the BRAF V600E </span>mutation in colorectal cancer by immunohistochemistry is a viable alternative to molecular methods. 23650027

2013

dbSNP: rs397517132
rs397517132
0.100 GeneticVariation BEFREE Encorafenib, Binimetinib, and Cetuximab in <i>BRAF</i> V600E-Mutated Colorectal Cancer. 31566309

2019

dbSNP: rs397517132
rs397517132
0.100 GeneticVariation BEFREE Non-V600E BRAF mutations and EGFR signaling pathway in colorectal cancer. 30963570

2019

dbSNP: rs397517132
rs397517132
0.100 GeneticVariation BEFREE We provide a global assessment of gene expression motifs that differentiate BRAF V600E subtypes from other colorectal cancers. 27354468

2017

dbSNP: rs909797662
rs909797662
0.040 GeneticVariation BEFREE Recruitment, particularly of patients with the rare G13D mutation, will demonstrate the ability for international collaboration to run prospective trials in small colorectal cancer molecular subgroups. 27246726

2016

dbSNP: rs909797662
rs909797662
0.040 GeneticVariation BEFREE These results reveal that KRAS G13D is responsive to neurofibromin-stimulated hydrolysis and suggest that a subset of <i>KRAS</i> G13-mutated colorectal cancers that are neurofibromin-competent may respond to EGFR therapies. 31611389

2019

dbSNP: rs909797662
rs909797662
0.040 GeneticVariation BEFREE To accomplish this, we first carried out an in silico analysis of RNA-seq databases and found that the distribution of alternative splicing isoforms of genes RPL13, HSP90B1, ENO1, EPDR1 and ZNF518B was altered in human CRC cell lines carrying the G13D KRAS mutation when compared to cell lines carrying wild-type KRAS. 27805251

2016

dbSNP: rs909797662
rs909797662
0.040 GeneticVariation BEFREE However, among the various <i>KRAS</i> mutations, that which encodes the G13D mutant protein (KRAS<sup>G13D</sup>) behaves differently; for unknown reasons, KRAS<sup>G13D</sup> CRC patients benefit from the EGFR-blocking antibody cetuximab. 31551296

2019

dbSNP: rs2227983
rs2227983
0.030 GeneticVariation BEFREE Genotypes with the variant allele of EGFR R521K SNP confer a risk reduction to develop CRC. 21896992

2011

dbSNP: rs2227983
rs2227983
0.030 GeneticVariation BEFREE Epidermal growth factor receptor R497K polymorphism is a favorable prognostic factor for patients with colorectal carcinoma. 17575224

2007

dbSNP: rs2227983
rs2227983
0.030 GeneticVariation BEFREE Patients carrying the AA genotype of EGFR rs2227983 had a significantly higher CRC risk than those carrying the G allele (HR=2.55, 95% CI=1.25-5.17). 30275229

2018

dbSNP: rs1057519860
rs1057519860
0.020 GeneticVariation BEFREE Our study indicated that EGFR and S492R EGFR accelerate the growth of CRC cells in vitro and in vivo and monoclonal antibody CH12, which specifically recognizes an EGFR tumor-specific epitope, can bind efficiently to S492R EGFR. 30671888

2019

dbSNP: rs1057519860
rs1057519860
0.020 GeneticVariation BEFREE The S492R EGFR ectodomain mutation is never detected in KRAS wild-type colorectal carcinoma before exposure to EGFR monoclonal antibodies. 24025416

2013

dbSNP: rs1282801317
rs1282801317
0.010 GeneticVariation BEFREE In the present study, two novel non-hotspot <i>KRAS</i> mutations were functionally characterized <i>in vitro</i>: KRAS E31D was identified from a genetic screen of colorectal cancer specimens at the UP-National Institutes of Health. 31289513

2019

dbSNP: rs1383485737
rs1383485737
0.010 GeneticVariation BEFREE NTRK gene mutations were identified in MSH2/MLH1-mutant CRC including NTRK1 I699V, NTRK2 P716S, and NTRK3 R745L. 28591715

2017

dbSNP: rs397517134
rs397517134
0.010 GeneticVariation BEFREE A significant association was found between the CCND1 A870G polymorphism and overall survival in our 39 CRC subjects. 16788380

2006

dbSNP: rs756703787
rs756703787
0.010 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