|
rs587778914
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families.
|
22395473 |
2012 |
|
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 |
|
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 |
|
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 |
|
rs63751608
|
|
|
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 |
|
rs63750217
|
|
|
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 |
|
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 |
|
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 |
|
rs63749939
|
|
|
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 |
|
rs587778966
|
|
|
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 |
|
rs63750206
|
|
|
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 |
|
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 |
|
rs587778937
|
|
|
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 |
|
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 |
|
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 |
|
rs63750899
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs63750217
|
|
|
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 |
|
rs35502531
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The p.Lys618Ala variant should be considered a neutral variant for LS.
|
21247423 |
2011 |
|
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 |