Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.790 GeneticVariation BEFREE To verify the technical characteristics of the microarray system for the correct identification of the KRAS mutational status at the two hotspot codons 12 and 13 and of the BRAF(V600E) mutation in colorectal tumor, we selected 75 samples previously characterized by conventional and CO-amplification at Lower Denaturation temperature-PCR (COLD-PCR) followed by High Resolution Melting analysis and direct sequencing. 23536897

2013

dbSNP: rs113488022
rs113488022
0.790 GeneticVariation BEFREE BRAF V600E mutation testing of colorectal tumors demonstrating aberrant MLH1 protein expression by IHC was the most common secondary tumor test, with 53% of laboratories performing the test; 15% of laboratories also applied the BRAF V600E test to endometrial tumors with aberrant MLH1 expression despite no evidence for its utility. 30294856

2018

dbSNP: rs113488022
rs113488022
0.790 GeneticVariation BEFREE Recently, a V599E hotspot mutation within the BRAF gene was reported in a high percentage of colorectal tumors and significantly associated to defective mismatch repair (MMR). 14668801

2003

dbSNP: rs113488022
rs113488022
0.790 GeneticVariation BEFREE Rac1b overexpression and B-Raf(V600E) are significantly associated in primary colorectal tumors (P = .008) and colorectal cell lines. 18602919

2008

dbSNP: rs113488022
rs113488022
0.790 GeneticVariation BEFREE Evaluation of high-resolution melting analysis as a diagnostic tool to detect the BRAF V600E mutation in colorectal tumors. 19213871

2009

dbSNP: rs113488022
rs113488022
0.790 GeneticVariation BEFREE Secondly, considering the alternative possibility, we identified genes whose DNA hypermethylation was closely linked to BRAF(V600E) and CIMP in 235 primary colorectal tumors. 20027224

2009

dbSNP: rs113488022
rs113488022
0.790 GeneticVariation BEFREE In addition, a significant association between mismatch-repair (MMR) deficiency and the V599E mutation in colorectal tumors has been found. 14654916

2004

dbSNP: rs113488022
rs113488022
0.790 GeneticVariation BEFREE The major aim of this study was to evaluate the performance of anti-BRAF V600E (VE1) antibody in colorectal tumors with and without KRAS mutation. 29127628

2019

dbSNP: rs113488022
rs113488022
0.790 GeneticVariation BEFREE Our results support the use of VE1 IHC for identification of colorectal neoplasms harboring the BRAF V600E mutation. 25517872

2015

dbSNP: rs6983267
rs6983267
0.730 GeneticVariation BEFREE Allelic imbalance at rs6983267 suggests selection of the risk allele in somatic colorectal tumor evolution. 18172290

2008

dbSNP: rs6983267
rs6983267
0.730 GeneticVariation BEFREE Three polymorphisms (rs10808555, rs6983267 and rs7837328) located between 128.47 and 128.54 Mb were found to be associated with colorectal tumor risk. 18535017

2008

dbSNP: rs6983267
rs6983267
0.730 GeneticVariation BEFREE A single nucleotide polymorphism (SNP), rs6983267, in the chromosome 8q24 region, has been associated with higher risk for colorectal neoplasms, but its relation to carcinogenic mechanisms is unclear. 24115145

2014

dbSNP: rs121913343
rs121913343
0.710 GeneticVariation BEFREE We further demonstrate by glutathione-S-transferase (GST) pull-down and coimmunoprecipitation that PBF binds to the tumor suppressor protein p53, as well as to p53 mutants (Δ126-132, M133K, V197E, G245D, I255F and R273C) identified in the colorectal tumors. 25408419

2016

dbSNP: rs16969681
rs16969681
0.710 GeneticVariation BEFREE The intestine-specific transcription factor CDX2 and Wnt effector TCF7L2 bound near rs16969681, with significantly higher affinity for the risk allele, and CDX2 overexpression in CDX2/GREM1-negative cells caused re-expression of GREM1. rs16969681 influences CRC risk through effects on Wnt-driven GREM1 expression in colorectal tumors. 25131200

2014

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE To verify the technical characteristics of the microarray system for the correct identification of the KRAS mutational status at the two hotspot codons 12 and 13 and of the BRAF(V600E) mutation in colorectal tumor, we selected 75 samples previously characterized by conventional and CO-amplification at Lower Denaturation temperature-PCR (COLD-PCR) followed by High Resolution Melting analysis and direct sequencing. 23536897

2013

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE Our results support the use of VE1 IHC for identification of colorectal neoplasms harboring the BRAF V600E mutation. 25517872

2015

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE Recently, a V599E hotspot mutation within the BRAF gene was reported in a high percentage of colorectal tumors and significantly associated to defective mismatch repair (MMR). 14668801

2003

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE The major aim of this study was to evaluate the performance of anti-BRAF V600E (VE1) antibody in colorectal tumors with and without KRAS mutation. 29127628

2019

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE Evaluation of high-resolution melting analysis as a diagnostic tool to detect the BRAF V600E mutation in colorectal tumors. 19213871

2009

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE In addition, a significant association between mismatch-repair (MMR) deficiency and the V599E mutation in colorectal tumors has been found. 14654916

2004

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE Secondly, considering the alternative possibility, we identified genes whose DNA hypermethylation was closely linked to BRAF(V600E) and CIMP in 235 primary colorectal tumors. 20027224

2009

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE Rac1b overexpression and B-Raf(V600E) are significantly associated in primary colorectal tumors (P = .008) and colorectal cell lines. 18602919

2008

dbSNP: rs121913377
rs121913377
0.090 GeneticVariation BEFREE BRAF V600E mutation testing of colorectal tumors demonstrating aberrant MLH1 protein expression by IHC was the most common secondary tumor test, with 53% of laboratories performing the test; 15% of laboratories also applied the BRAF V600E test to endometrial tumors with aberrant MLH1 expression despite no evidence for its utility. 30294856

2018

dbSNP: rs1463038513
rs1463038513
APC
0.030 GeneticVariation BEFREE The I1307K mutation is common among Jews who have had colorectal neoplasms, but overall it was found to have little effect clinically in the current study group. 15959913

2005

dbSNP: rs1463038513
rs1463038513
APC
0.030 GeneticVariation BEFREE The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. 9724771

1998