Gene: MLH1 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs780406337
rs780406337
MLH1
0.010 GeneticVariation BEFREE Both mutations: c.3984_3987dup and c.1906G>C account for 61% of HNPCC Ashkenazi families in this cohort. 19851887

2010
dbSNP: rs35502531
rs35502531
MLH1
0.030 GeneticVariation BEFREE The p.Lys618Ala variant should be considered a neutral variant for LS. 21247423

2011
dbSNP: rs587778914
rs587778914
MLH1
0.710 GeneticVariation BEFREE Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families. 22395473

2012
dbSNP: rs63749818
rs63749818
MLH1
0.710 GeneticVariation BEFREE The novel nonsense germline point mutation c.392C>G in the codon 131 of MLH1(S131X) was identified as the underlying genetic cause of LS in three families. 23100212

2012
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: rs35502531
rs35502531
MLH1
0.030 GeneticVariation BEFREE We conclude that MLH1 K618A is not a fully penetrant Lynch syndrome mutation, although it is not without effect, appearing to increase the risk of Lynch syndrome-associated tumors approximately twofold. 22426235

2012
dbSNP: rs1799977
rs1799977
MLH1
0.020 GeneticVariation BEFREE To evaluate the mutL homolog 1 (MLH1) I219V polymorphism in 124 unrelated South American individuals suspected of having Lynch syndrome, based on frequency, association with pathogenic MLH1 and mutS homolog 2 (MSH2) mutation and clinical features. 23060557

2012
dbSNP: rs1392665848
rs1392665848
MLH1
0.010 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: rs587778937
rs587778937
MLH1
0.710 GeneticVariation BEFREE Evidence from clinical, histological, immunohistochemical, and molecular genetic data suggests that MLH1 c.1664T>C (p.Leu555Pro) is likely to be the pathogenic cause of Lynch syndrome in this family. 23712482

2013
dbSNP: rs63750575
rs63750575
MLH1
0.010 GeneticVariation BEFREE Evidence from clinical, histological, immunohistochemical, and molecular genetic data suggests that MLH1 c.1664T>C (p.Leu555Pro) is likely to be the pathogenic cause of Lynch syndrome in this family. 23712482

2013
dbSNP: rs63751202
rs63751202
MLH1
0.010 GeneticVariation BEFREE Evidence from clinical, histological, immunohistochemical, and molecular genetic data suggests that MLH1 c.1664T>C (p.Leu555Pro) is likely to be the pathogenic cause of Lynch syndrome in this family. 23712482

2013
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: rs63750656
rs63750656
MLH1 ; EPM2AIP1
0.010 GeneticVariation BEFREE A dominantly transmitted constitutional MLH1 epimutation has been linked to an MLH1 haplotype bearing two single-nucleotide variants, NM_000249.2: c.-27C>A and c.85G>T, in a Caucasian family with Lynch syndrome from Western Australia. 24084575

2014
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: rs1260021106
rs1260021106
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: rs267607713
rs267607713
MLH1
0.010 GeneticVariation BEFREE Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors. 25060679

2015
dbSNP: rs786201226
rs786201226
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: rs63750217
rs63750217
MLH1
0.720 GeneticVariation BEFREE Next to mutations c. 2041G>A in MLH1 gene and c.942+3A>T in MSH2, the deletion mutation encompassing EPCAM is one of the most common causative changes responsible for LS in Poland. 28369810

2017
dbSNP: rs63750791
rs63750791
MLH1
0.010 GeneticVariation BEFREE The silent mutation MLH1 c.543C>T resulting in aberrant splicing can cause Lynch syndrome: a case report. 28334867

2017