Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17026425
rs17026425
0.700 GeneticVariation GWASCAT A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes. 25866641

2015

dbSNP: rs6854845
rs6854845
0.700 GeneticVariation GWASCAT A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes. 25866641

2015

dbSNP: rs397507444
rs397507444
0.060 GeneticVariation BEFREE Although the MTHFR A1298C polymorphism was not associated with OS in CRC, this polymorphism was associated with significantly shorter OS in rectal cancer. 28044213

2017

dbSNP: rs397507444
rs397507444
0.060 GeneticVariation BEFREE The pooled analysis results indicated that MTHFR C677T might be correlated with the tumor response to pRCT under the recessive model (CC vs. CTTT) in overall analysis (OR=1.426(1.074-1.894), P=0.014), rectal cancer (OR=1.483(1.102-1.996), P=0.009), and TRG 1-2 vs. 3-5 group (OR=1.423(1.046-1.936), P=0.025), while other polymorphism including MTHFR A1298C, EGFR G497A, and EGFR CA repeat polymorphisms exerted significant association under all genetic models in overall analysis or subgroup analysis. 26456456

2015

dbSNP: rs397507444
rs397507444
0.060 GeneticVariation BEFREE This study aimed to evaluate the effects of lifestyle factors, family history and genetic polymorphisms in MTHFR C677T and A1298C on rectal cancer risk and possible interactions with lifestyle factors in Northeast Thailand. 23098510

2012

dbSNP: rs397507444
rs397507444
0.060 GeneticVariation BEFREE These results in the present study suggested that polymorphisms of the MTHFR C677T could influence susceptibility to colon or rectal cancer and that there was a coordinated effect between MTHFR A1298C A/A and C677T T/T genotypes among males. 18712959

2009

dbSNP: rs397507444
rs397507444
0.060 GeneticVariation BEFREE We examined independent associations and interactions of folate, B vitamins, methionine, alcohol, and MTHFR polymorphisms (MTHFR C677T and A1298C) with rectal cancer. 17245555

2007

dbSNP: rs397507444
rs397507444
0.060 GeneticVariation BEFREE This study suggests that MTHFR C677T and A1298C polymorphisms are associated with the reduced risk of colon and rectal cancers, respectively. 15829374

2005

dbSNP: rs1217691063
rs1217691063
0.050 GeneticVariation BEFREE The pooled analysis results indicated that MTHFR C677T might be correlated with the tumor response to pRCT under the recessive model (CC vs. CTTT) in overall analysis (OR=1.426(1.074-1.894), P=0.014), rectal cancer (OR=1.483(1.102-1.996), P=0.009), and TRG 1-2 vs. 3-5 group (OR=1.423(1.046-1.936), P=0.025), while other polymorphism including MTHFR A1298C, EGFR G497A, and EGFR CA repeat polymorphisms exerted significant association under all genetic models in overall analysis or subgroup analysis. 26456456

2015

dbSNP: rs1217691063
rs1217691063
0.050 GeneticVariation BEFREE This study aimed to evaluate the effects of lifestyle factors, family history and genetic polymorphisms in MTHFR C677T and A1298C on rectal cancer risk and possible interactions with lifestyle factors in Northeast Thailand. 23098510

2012

dbSNP: rs1217691063
rs1217691063
0.050 GeneticVariation BEFREE These results in the present study suggested that polymorphisms of the MTHFR C677T could influence susceptibility to colon or rectal cancer and that there was a coordinated effect between MTHFR A1298C A/A and C677T T/T genotypes among males. 18712959

2009

dbSNP: rs1217691063
rs1217691063
0.050 GeneticVariation BEFREE We examined independent associations and interactions of folate, B vitamins, methionine, alcohol, and MTHFR polymorphisms (MTHFR C677T and A1298C) with rectal cancer. 17245555

2007

dbSNP: rs1217691063
rs1217691063
0.050 GeneticVariation BEFREE This study suggests that MTHFR C677T and A1298C polymorphisms are associated with the reduced risk of colon and rectal cancers, respectively. 15829374

2005

dbSNP: rs1042522
rs1042522
0.030 GeneticVariation BEFREE TP53 rs1042522 and the associated protein expression could be used as indicators for biological behavior and prognosis in low rectal cancer. 31788124

2019

dbSNP: rs1042522
rs1042522
0.030 GeneticVariation BEFREE Thus, our current meta-analysis indicates no evidence for the association between the p53 Arg72Pro polymorphism and CRC risk in the Asian population, but significant association in Chinese population, especially for rectal cancer and in men. 30316510

2018

dbSNP: rs1042522
rs1042522
0.030 GeneticVariation BEFREE These results suggest that the TP53 Arg72Pro polymorphism CC genotype may contribute to an increased risk of CRC, especially for rectal cancer and among Asians. 27901479

2017

dbSNP: rs113488022
rs113488022
0.030 GeneticVariation BEFREE Here we report a patient with rectal cancer who carried the novel BRAF mutation VK600-601E, which has analogous molecular functions to those of the conventional BRAF mutation V600E, and may have potential as a prognostic marker for colorectal cancer (CRC). 25636897

2015

dbSNP: rs113488022
rs113488022
0.030 GeneticVariation BEFREE Compared with BRAF wild type, BRAF(V600E) was a risk for poor survival (overall survival; 5 years: 62.3% vs 51.6%, P=0.014; HR 1.43, CI 1.07-1.90, P=0.009), especially in rectal cancer (for DSS, HR: 10.60, CI: 3.04-36.92, P<0.001). 25973534

2015

dbSNP: rs113488022
rs113488022
0.030 GeneticVariation BEFREE dMMR and BRAF V600E mutations were identified in 31 of 208 (14.9%) and 23 of 211 (10.9%) tumors, respectively. dMMR was more commonly found in patients with primary colon tumors rather than rectal cancer (20.4% vs 7.6%, P =0.01), but there was no difference in MMR status between the right-sided and left-sided colon tumors (20.8% vs 34.6%, P = 0.24). dMMR was associated with early-stage rather than metastatic disease (17.3% vs 0%, P = 0.015). 25624727

2015

dbSNP: rs121913377
rs121913377
0.030 GeneticVariation BEFREE Compared with BRAF wild type, BRAF(V600E) was a risk for poor survival (overall survival; 5 years: 62.3% vs 51.6%, P=0.014; HR 1.43, CI 1.07-1.90, P=0.009), especially in rectal cancer (for DSS, HR: 10.60, CI: 3.04-36.92, P<0.001). 25973534

2015

dbSNP: rs121913377
rs121913377
0.030 GeneticVariation BEFREE Here we report a patient with rectal cancer who carried the novel BRAF mutation VK600-601E, which has analogous molecular functions to those of the conventional BRAF mutation V600E, and may have potential as a prognostic marker for colorectal cancer (CRC). 25636897

2015

dbSNP: rs121913377
rs121913377
0.030 GeneticVariation BEFREE dMMR and BRAF V600E mutations were identified in 31 of 208 (14.9%) and 23 of 211 (10.9%) tumors, respectively. dMMR was more commonly found in patients with primary colon tumors rather than rectal cancer (20.4% vs 7.6%, P =0.01), but there was no difference in MMR status between the right-sided and left-sided colon tumors (20.8% vs 34.6%, P = 0.24). dMMR was associated with early-stage rather than metastatic disease (17.3% vs 0%, P = 0.015). 25624727

2015

dbSNP: rs25487
rs25487
0.030 GeneticVariation BEFREE The thymidylate synthase genotype and XRCC1 Arg399Gln polymorphism might help to identify Stage II-III rectal cancer patients with a better outcome after preoperative concomitant chemoradiotherapy. 21570215

2011

dbSNP: rs13181
rs13181
0.030 GeneticVariation BEFREE We detected the distributions of three single-nucleotide polymorphisms (XRCC1 Arg399Gln, XRCC3 Thr241Met and XPD Lys751Gln) in DNA repair genes, and assessed the associations of these genetic polymorphisms with colon and rectal cancer susceptibility as well as evaluated the interactions of gene-gene and gene-environment in a case-control study of an Indian population. 20229274

2010

dbSNP: rs25487
rs25487
0.030 GeneticVariation BEFREE The gene polymorphism of the X-ray-repair-cross complementing (XRCC1-) gene (rs25487) was analyzed to predict response to neoadjuvant radiochemotherapy and prognosis in patients with locally advanced rectal cancer. 20863523

2010