Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10795668
rs10795668
0.900 GeneticVariation BEFREE We observed an association between the low colorectal cancer risk allele (A) for rs10795668 at 10p14 and increased expression of ATP5C1 (q = 0.024) and between the colorectal cancer high risk allele (C) for rs4444235 at 14q22.2 and increased expression of DLGAP5 (q = 0.041), both in tumor samples. 22363440

2012

dbSNP: rs10795668
rs10795668
0.900 GeneticVariation BEFREE LOH analysis revealed preferential retention of three SNPs, rs12657484, rs3802842, and rs4444235, in tumor tissues. rs4444235 has been recently reported to be a cis-acting regulator of BMP4 gene; in this study, the C allele was preferentially retained in tumor tissues (p = 0.0023). rs4631962 and rs10795668 contribute to CRC risk in the Taiwanese and East Asian populations, and the newly identified rs1338565 was specifically associated with CRC, supporting the ethnic diversity of CRC-susceptibility SNPs. 24968322

2014

dbSNP: rs10795668
rs10795668
0.900 GeneticVariation BEFREE In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two previously unreported associations: rs10795668, located at 10p14 (P = 2.5 x 10(-13) overall; P = 6.9 x 10(-12) replication), and rs16892766, at 8q23.3 (P = 3.3 x 10(-18) overall; P = 9.6 x 10(-17) replication), which tags a plausible causative gene, EIF3H. 18372905

2008

dbSNP: rs10795668
rs10795668
0.900 GeneticVariation BEFREE In contrast, in African Americans, the opposite allele of rs10795668 at 10p14 was associated with colorectal cancer (odds ratio, 1.35; P = .04), and altogether the odds ratios were in the opposite direction for 9 of the 22 SNPs tested. 20659471

2010

dbSNP: rs10795668
rs10795668
0.900 GeneticVariation BEFREE Furthermore, we found that rs10795668 was associated with increased risk only in rectal cancer but not colon cancer, and rs3802842 was also significantly associated with advanced stages of CRC. 20530476

2010

dbSNP: rs10795668
rs10795668
0.900 GeneticVariation BEFREE We genotyped four variants previously associated with CRC: rs10795668, rs16892766, rs3802842 and rs4939827. 24066093

2013

dbSNP: rs10795668
rs10795668
0.900 GeneticVariation BEFREE rs4939827, rs4779584, and rs10795668 may contribute to the risk of CRC in the Korean population as well as in European populations. 23875689

2015

dbSNP: rs10795668
rs10795668
0.900 GeneticVariation BEFREE In conclusion, CRC susceptibility variants rs9929218 and rs10795668 may exert some influence in modulating patient's survival and they deserve to be further tested in additional CRC cohorts in order to confirm their potential as prognosis or predictive biomarkers. 23712746

2013

dbSNP: rs10795668
rs10795668
0.900 GeneticVariation BEFREE We studied the role of the 8q24.21 (rs6983267), 18q21.1 (rs12953717), 15q13.3 (rs4779584), 11q23.1 (rs3802842), 8q23.3 (rs16892766), and 10p14 (rs10795668) risk variants in a series of 995 Dutch CRC cases and 1340 controls. 19843678

2009

dbSNP: rs10795668
rs10795668
0.900 GeneticVariation BEFREE Our data suggested that rs10795668, a CRC susceptibility variant identified by GWA studies, might be used as a biomarker to identify CRC patients with high risk of recurrence after chemotherapy. 21402474

2011

dbSNP: rs10795668
rs10795668
0.900 GeneticVariation BEFREE Results from our case-control study and the followed meta-analysis confirmed the significant association of rs10795668 with CRC risk. 23717594

2013

dbSNP: rs10795668
rs10795668
0.900 GeneticVariation BEFREE We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). 22367214

2012

dbSNP: rs113488022
rs113488022
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
0.900 GeneticVariation BEFREE In advanced CRCs, KRAS mutations occurred in 48% of cases (64% codons 12/13, 36% other codons) and BRAF mutations in 10% (66% V600E, 33% exon 11). 19474002

2009

dbSNP: rs113488022
rs113488022
0.900 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

2017

dbSNP: rs113488022
rs113488022
0.900 GeneticVariation BEFREE Through an RNAi screen, here we identify the transcriptional repressor MAFG as the pivotal factor required for MLH1 silencing and CIMP in CRCs containing BRAF(V600E). 25219500

2014

dbSNP: rs113488022
rs113488022
0.900 GeneticVariation BEFREE BRAF-V600E mutations were analysed by automatic sequencing in colorectal cancers from 206 sporadic cases with MSI-H and 111 HNPCC cases with known germline mutations in MLH1 and MSH2. 15342696

2004

dbSNP: rs113488022
rs113488022
0.900 GeneticVariation BEFREE Here, we measured the prevalence and epidemiologic correlates of the BRAF V600E somatic mutation in cases collected as a part of a population-based case-control study of CRC in northern Israel. 20200438

2010

dbSNP: rs113488022
rs113488022
0.900 GeneticVariation BEFREE Circulating 25(OH)D was also inversely associated with <i>BRAF</i> V600E-positive colorectal cancer (per 25 nmol/L increment: HR, 0.71; 95% CI, 0.50-1.01). 30842127

2019

dbSNP: rs113488022
rs113488022
0.900 GeneticVariation BEFREE Colorectal cancer (CRC) with the V600E mutation of B-Raf proto-oncogene serine/threonine kinase (BRAF<sup>V600E</sup>) mutation is insensitive to chemotherapy and is indicative of a poor patient prognosis. 30854056

2019

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

2014

dbSNP: rs113488022
rs113488022
0.900 GeneticVariation BEFREE The aim of our study was to test sebaceous neoplasms for V600E BRAF or KRAS mutations to determine if these mutations are associated with somatic or germline MMR defects, analogous to colorectal carcinomas. 24767862

2014

dbSNP: rs113488022
rs113488022
0.900 GeneticVariation BEFREE The absence of BRAF V600E mutation separates LLS colorectal carcinomas from MLH1-methylated colorectal carcinomas with CIMP-positive phenotype. 30575961

2019

dbSNP: rs113488022
rs113488022
0.900 GeneticVariation BEFREE Identification and Characterization of Small-Molecule Inhibitors to Selectively Target the DFG-in over the DFG-out Conformation of the B-Raf Kinase V600E Mutant in Colorectal Cancer. 27624806

2016

dbSNP: rs113488022
rs113488022
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