Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1021631442
rs1021631442
MSH6 ; FBXO11
A 0.700 GeneticVariation CLINVAR Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. 23047549

2012
dbSNP: rs1042522
rs1042522
TP53
0.030 GeneticVariation BEFREE The R72P polymorphism was examined in HNPCC patients and found to be not associated with disease development in either the Australian or Polish populations. 16353134

2006
dbSNP: rs1042522
rs1042522
TP53
0.030 GeneticVariation BEFREE We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. 17224235

2007
dbSNP: rs1042522
rs1042522
TP53
0.030 GeneticVariation BEFREE The study results revealed that the rs1042522 genotype with the C allele and the rs12947788 genotype with the T allele in TP53 were associated with a decreased CRC risk in patients with Lynch syndrome in Taiwan. 27907203

2016
dbSNP: rs1042821
rs1042821
MSH6
0.010 GeneticVariation BEFREE Although the MSH6 G39E polymorphism is considered to be a biomarker of hereditary nonpolyposis colorectal cancer (HNPCC), many studies have also found that it may be associated with increased risks of lung, breast, and pancreatic cancers, with inconsistent estimated risks. 24622885

2014
dbSNP: rs1048943
rs1048943
CYP1A1
0.010 GeneticVariation BEFREE Our results suggest that the I462V and Msp1 polymorphisms in CYP1A1 may be an additional susceptibility factor for disease expression in Lynch syndrome because they modify the age of colorectal cancer onset by up to 4 years. 18768509

2008
dbSNP: rs1056827
rs1056827
CYP1B1 ; CYP1B1-AS1
0.010 GeneticVariation BEFREE Moreover, significant interactions were observed between NAT1 acetylation and CYP1B1 rs1056827 and meat consumption.Our results suggest that xenobiotic-metabolizing SNPs are not only associated with CRC risk in patients with Lynch syndrome in Taiwan but also interact with meat consumption to modify the disease risk.Environ.Mol.Mutagen.59:69-78, 2018.© 2017 Wiley Periodicals, Inc. 28714190

2018
dbSNP: rs1057517541
rs1057517541
MLH1
T 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs1057517764
rs1057517764
MSH6 ; FBXO11
AT 0.700 CausalMutation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993

2010
dbSNP: rs1057520735
rs1057520735
MSH2
0.010 GeneticVariation BEFREE Here, we report a Taiwanese family with HNPCC and mutation analysis revealed a novel nonsense mutation (S611X) in MSH2 gene. 21354521

2011
dbSNP: rs1060500702
rs1060500702
MLH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501991
rs1060501991
MSH2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503115
rs1060503115
PMS2
0.090 GeneticVariation BEFREE Seventy cases were found to have MSI, of which 25 were excluded from further investigation as possible LS cases due to presence of the BRAF V600E mutation. 22120844

2012
dbSNP: rs1060503115
rs1060503115
PMS2
0.090 GeneticVariation BEFREE Tumors were also screened for BRAF V600E mutations; patients with the mutation were considered as non-HNPCC. 17312306

2007
dbSNP: rs1060503115
rs1060503115
PMS2
0.090 GeneticVariation BEFREE Using BRAF V600E IHC in our Lynch syndrome screening algorithm, we found a 10% cost savings compared with mutational analysis. 25696791

2015
dbSNP: rs1060503115
rs1060503115
PMS2
0.090 GeneticVariation BEFREE BRAF V600E mutation analysis simplifies the testing algorithm for Lynch syndrome. 23897252

2013
dbSNP: rs1060503115
rs1060503115
PMS2
0.090 GeneticVariation BEFREE This study demonstrates that the IHC approach for both MMR deficiency and V600E BRAF mutation detections is the most efficient approach for Lynch syndrome screening in the Italian population. 31609810

2019
dbSNP: rs1060503115
rs1060503115
PMS2
0.090 GeneticVariation BEFREE We defined sporadic MSI-high carcinomas as those with loss of MLH1 and PMS2 immunostaining and BRAF V600E mutations that occurred in patients 50 years of age or older without a family history of colonic adenocarcinoma or Lynch syndrome. 25602793

2015
dbSNP: rs1060503115
rs1060503115
PMS2
0.090 GeneticVariation BEFREE In addition, the combination of microsatellite instability testing, MLH1 promoter methylation analysis, and BRAF (V600E) mutation analysis can distinguish a sporadic colorectal cancer from one associated with HNPCC, helping to avoid costly molecular genetic testing for germline mutations in mismatch repair genes. 18556776

2008
dbSNP: rs1060503115
rs1060503115
PMS2
0.090 GeneticVariation BEFREE None of the tumors from mismatch repair (MMR) gene germline mutation carriers (n = 28) displayed positive VE1 staining, indicating that BRAF V600E mutation-specific immunostaining has a low risk of excluding Lynch syndrome patients from germline mutation analysis. 23553055

2013
dbSNP: rs1060503115
rs1060503115
PMS2
0.090 GeneticVariation BEFREE The BRAF V600E mutation is specifically associated with sporadic MSI+ CRCs with methylated MLH1, but is not associated with Lynch syndrome-related CRCs. 25701956

2015
dbSNP: rs1060504000
rs1060504000
MLH1
0.010 GeneticVariation BEFREE We aimed to determine the pathogenicity of previously reported variants (c.-28A>G and c.-7C>T) within the MLH1 5'untranslated region (UTR) in two individuals from unrelated suspected Lynch syndrome families. 25762362

2015
dbSNP: rs1064793489
rs1064793489
MSH6 ; FBXO11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1064793600
rs1064793600
MSH6 ; FBXO11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1064794566
rs1064794566
PMS2
A 0.700 GeneticVariation CLINVAR