Gene: MLH1 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs63751713
rs63751713
MLH1
0.020 GeneticVariation BEFREE Interestingly, two HNPCC missense alterations (Q542L and L582V) contained within the consensus interaction region displayed no effect on interaction with hPMS2, suggesting that they may affect other functions of hMLH1. 10037723

1999
dbSNP: rs63750511
rs63750511
MLH1
0.010 GeneticVariation BEFREE Interestingly, two HNPCC missense alterations (Q542L and L582V) contained within the consensus interaction region displayed no effect on interaction with hPMS2, suggesting that they may affect other functions of hMLH1. 10037723

1999
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: rs41295282
rs41295282
MLH1
0.010 GeneticVariation BEFREE In contrast, the third amino-terminal mutation S93G did not affect the heterodimerization, and the MLH1(S93G)/PMS2 variant was functional in the in vitro MMR assay, given thus the nature of the HNPCC family in question. 11793442

2002
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: rs1418586322
rs1418586322
MLH1
0.020 GeneticVariation BEFREE Although rare in the general population, the A636P mutation is detected in up to 7% of Ashkenazi Jewish patients with early age-of-onset colorectal cancer, and may account for up to one third of HNPCC in the Ashkenazi Jewish population. 15516845

2004
dbSNP: rs63750217
rs63750217
MLH1
0.720 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: 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: rs63751713
rs63751713
MLH1
0.020 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: rs376642306
rs376642306
MLH1
0.010 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: rs63750193
rs63750193
MLH1
0.010 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: rs587778966
rs587778966
MLH1
0.720 GeneticVariation BEFREE The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously identified polymorphisms (I219V and I219L) and two with confirmed hereditary nonpolyposis colorectal cancer (HNPCC) syndrome mutations (G224D and G67R). 16982745

2006
dbSNP: rs63750206
rs63750206
MLH1
0.720 GeneticVariation BEFREE The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously identified polymorphisms (I219V and I219L) and two with confirmed hereditary nonpolyposis colorectal cancer (HNPCC) syndrome mutations (G224D and G67R). 16982745

2006
dbSNP: rs35502531
rs35502531
MLH1
0.030 GeneticVariation BEFREE The pathogenicity of the K618A and Y646C mutations was questionable as their correlation with features typical of HNPCC was low and the outcome of the functional analysis was ambiguous. 16724012

2006
dbSNP: rs1799977
rs1799977
MLH1
0.020 GeneticVariation BEFREE The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously identified polymorphisms (I219V and I219L) and two with confirmed hereditary nonpolyposis colorectal cancer (HNPCC) syndrome mutations (G224D and G67R). 16982745

2006
dbSNP: rs28930073
rs28930073
MLH1
0.010 GeneticVariation BEFREE Here, we describe a family that does not meet the international criteria for HNPCC, of which a young woman harbors a missense mutation (D132H). 16685411

2006
dbSNP: rs35045067
rs35045067
MLH1
0.010 GeneticVariation BEFREE The pathogenicity of the K618A and Y646C mutations was questionable as their correlation with features typical of HNPCC was low and the outcome of the functional analysis was ambiguous. 16724012

2006
dbSNP: rs864622258
rs864622258
MLH1
0.010 GeneticVariation BEFREE We herein describe a nucleotide change, c.2063T>G in exon 13 of the MSH2 gene, present in families that fulfill the Amsterdam criteria for Lynch syndrome and originate from northern Tenerife (Canary Islands-Spain). 16500024

2006
dbSNP: rs1418586322
rs1418586322
MLH1
0.020 GeneticVariation BEFREE Although rare in the general population, A636P mutations are found at increased frequency in Ashkenazim with a personal or family history of colorectal or other HNPCC-associated cancers. 17414604

2007
dbSNP: rs587778966
rs587778966
MLH1
0.720 GeneticVariation BEFREE Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele. 19142183

2009
dbSNP: rs63750206
rs63750206
MLH1
0.720 GeneticVariation BEFREE Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele. 19142183

2009
dbSNP: rs63749939
rs63749939
MLH1
0.710 GeneticVariation BEFREE Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele. 19142183

2009
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: rs41295284
rs41295284
MLH1
0.010 GeneticVariation BEFREE This outcome could explain the HNPCC familial cancers that present as microsatellite stable and with intact MMR, such as MLH(L607H). 20978114

2010