Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs121434569
rs121434569
0.020 GeneticVariation BEFREE The US Food and Drug Administration approved a liquid biopsy test for EGFR-activating mutations in patients with non-small-cell lung cancer as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in non-small-cell lung cancer. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30883505

2019

dbSNP: rs121434569
rs121434569
0.020 GeneticVariation BEFREE The US FDA approved a liquid biopsy test for EGFR activating mutations in patients with non-small cell lung cancer (NSCLC) as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in NSCLC. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30335711

2018

dbSNP: rs373129709
rs373129709
0.020 GeneticVariation BEFREE We suggest that EGF A61G genotype has a functional influence on EGF gene expression in normal colon in CRC patients. 17851837

2007

dbSNP: rs373129709
rs373129709
0.020 GeneticVariation BEFREE The findings of this pilot study suggest that the cyclin D1 A870G and the EGF A61G polymorphisms may be useful molecular markers for predicting clinical outcome in CRC patients treated with single-agent Cetuximab. 16788380

2006

dbSNP: rs1050171
rs1050171
0.010 GeneticVariation BEFREE A synonymous polymorphism (rs1050171, p.Q787Q) was shown to be associated with improved overall survival (OS) in colorectal cancer patients. 27750395

2017

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

dbSNP: rs774487133
rs774487133
0.010 GeneticVariation BEFREE We detected a GGT insertion between codons 12 and 13 (c.36_37insGGT;p.G12_G13insG) in a CRC patient. 24594115

2014