Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750211
rs63750211
MLH1
0.710 GeneticVariation BEFREE We encountered a large Irish Lynch syndrome kindred that carries the c.544A>G (p.Arg182Gly) alteration in the MLH1 gene and we undertook to study the variant. 22773173

2012
dbSNP: rs63750493
rs63750493
MSH2
0.710 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: rs63750693
rs63750693
MLH1
0.710 GeneticVariation BEFREE The variants c.306+5G>A and c.1865T>A (p.Leu622His) of the DNA repair gene MLH1 occur frequently in Spanish Lynch syndrome families. 20858721

2010
dbSNP: rs63750710
rs63750710
MLH1
0.710 GeneticVariation BEFREE Thus, the H329P mutation present in the germline can be considered as having an aetiological role in this HNPCC family. 9272156

1997
dbSNP: rs63750741
rs63750741
MSH6 ; FBXO11
0.710 GeneticVariation BEFREE In this study, we show segregation of the putative pathogenic MSH6 missense mutation c.1346T>C p.Leu449Pro with microsatellite instability-high Lynch syndrome-related tumours lacking MSH6 expression in a large 17th century pedigree. 16283884

2005
dbSNP: rs63750781
rs63750781
MLH1
0.710 GeneticVariation BEFREE We report here novel HNPCC-hMLH1 mutant proteins (T117M, Q426X and 1813insA) in Danish HNPCC patients. 11429708

2001
dbSNP: rs63750899
rs63750899
MLH1
0.710 GeneticVariation BEFREE Here, we describe a mutation, MLH1 P648S, which was found in a typical HNPCC family, with one homozygous child displaying mild features of NF1 and no hematological cancers. 15139004

2004
dbSNP: rs63751147
rs63751147
MSH2
0.710 GeneticVariation BEFREE MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France. 31433521

2020
dbSNP: rs63751192
rs63751192
MSH2
0.710 GeneticVariation BEFREE MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France. 31433521

2020
dbSNP: rs63751194
rs63751194
MLH1
0.710 GeneticVariation BEFREE We recommend a screening strategy for the local LS by starting with tumor IHC and the hotspot mutation testing at MLH1 c.793C>T followed by comprehensive mutation scanning in MLH1 and MSH2 prior to proceeding to other MMR genes. 24710284

2014
dbSNP: rs63751207
rs63751207
MSH2
0.710 GeneticVariation BEFREE We have identified the source of the genetic instability in one ovarian tumor as a point mutation (R524P) in the human mismatch-repair gene MSH2 (Salmonella MutS homologue), which has recently been shown to be involved in hereditary nonpolyposis colorectal cancer. 7937795

1994
dbSNP: rs63751608
rs63751608
MLH1
0.710 GeneticVariation BEFREE Analysis of seven HNPCC-associated hMLH1 missense mutations located within the hMRE11-interacting domain shows that four mutations (L574P, K618T, R659P and A681T) cause near-complete disruption of the interaction between hMRE11 and hMLH1, and two mutations (Q542L and L582V) cause a 30% reduction of protein interaction. 15864295

2005
dbSNP: rs63751624
rs63751624
MSH2
0.710 GeneticVariation BEFREE Three Lynch syndrome cases were identified: MSH2 c.2634G>A pathogenic mutation, c.(1896+1_1897-1)_(*193_?)del , and one fulfilling the Amsterdam criteria, with MLH1 and PMS2 deficiency, but no identifiable pathogenic mutation. 31647837

2019
dbSNP: rs786201042
rs786201042
MSH6
0.710 GeneticVariation BEFREE We identified an MSH6 mutation (c.10C>T, p.Gln4*) causing Lynch syndrome (LS) in 11 French Canadian (FC) families from the Canadian province of Quebec. 25318681

2015
dbSNP: rs1553356518
rs1553356518
MSH2
0.700 CausalMutation CLINVAR

dbSNP: rs113488022
rs113488022
BRAF
0.100 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: rs113488022
rs113488022
BRAF
0.100 GeneticVariation BEFREE MSI-H colorectal carcinomas were divided into sporadic (112/1292, 8.7%) and LS/probable LS-associated (38/1292, 2.9%) groups based on BRAF V600E mutation, MLH1 promoter hypermethylation, cancer history, and germline mismatch repair gene mutation. 24034859

2013
dbSNP: rs113488022
rs113488022
BRAF
0.100 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: rs113488022
rs113488022
BRAF
0.100 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: rs113488022
rs113488022
BRAF
0.100 GeneticVariation BEFREE The BRAF-V600E hotspot mutation was found in 40% (82/206) of the sporadic MSI-H tumours analysed but in none of the 111 tested HNPCC tumours or in the 45 cases showing abnormal MSH2 immunostaining. 15342696

2004
dbSNP: rs113488022
rs113488022
BRAF
0.100 GeneticVariation BEFREE V599E was observed in 12 of 19 (63%) polyps and 14 of 20 (70%) cancers (4 of 4 high MSI, 2 of 4 low MSI, and 8 of 12 stable MSI), a significant increase over HNPCC (0 of 15 or 0%), and unselected CRC (30 of 197 or 15.2%) ( P < .05). 15765445

2005
dbSNP: rs113488022
rs113488022
BRAF
0.100 GeneticVariation BEFREE The MSI-high status has also been described in sporadic colorectal cancer (CRC) associated with BRAF gene mutation (V600E); this mutation was not present in LS-associated cancers. 26096739

2015
dbSNP: rs113488022
rs113488022
BRAF
0.100 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: rs113488022
rs113488022
BRAF
0.100 GeneticVariation BEFREE BRAF V600E mutation and MLH1 promoter hypermethylation have been proposed as a screening tool for the identification of LS. 22274583

2012
dbSNP: rs113488022
rs113488022
BRAF
0.100 GeneticVariation BEFREE The detection of a BRAF V600E mutation further supports the exclusion of HNPCC. 17545526

2007