|
rs63750791
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The silent mutation MLH1 c.543C>T resulting in aberrant splicing can cause Lynch syndrome: a case report.
|
28334867 |
2017 |
|
rs1060504000
|
|
|
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 |
|
rs1260021106
|
|
|
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 |
|
rs267607713
|
|
|
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 |
|
rs786201226
|
|
|
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 |
|
rs63750656
|
|
|
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 |
|
rs63750575
|
|
|
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 |
|
rs63751202
|
|
|
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 |
|
rs1392665848
|
|
|
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 |
|
rs41295284
|
|
|
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 |
|
rs780406337
|
|
|
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 |
|
rs28930073
|
|
|
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 |
|
rs35045067
|
|
|
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 |
|
rs864622258
|
|
|
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 |
|
rs376642306
|
|
|
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 |
|
rs63750193
|
|
|
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 |
|
rs41295282
|
|
|
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 |
|
rs63750511
|
|
|
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 |
|
rs1799977
|
|
|
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 |
|
rs1418586322
|
|
|
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 |
|
rs1799977
|
|
|
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 |
|
rs63751713
|
|
|
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 |
|
rs1418586322
|
|
|
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 |
|
rs63751713
|
|
|
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 |
|
rs35502531
|
|
|
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 |