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 |
rs587778966
|
|
|
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 |
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 |
rs63750206
|
|
|
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 |
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 |
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 |
rs587778914
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families.
|
22395473 |
2012 |
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 |
rs63749818
|
|
|
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 |
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 |
rs63750211
|
|
|
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 |
rs63750693
|
|
|
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 |
rs63750710
|
|
|
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 |
rs63750781
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We report here novel HNPCC-hMLH1 mutant proteins (T117M, Q426X and 1813insA) in Danish HNPCC patients.
|
11429708 |
2001 |
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 |
rs63751194
|
|
|
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 |
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 |
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 |
rs35502531
|
|
|
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 |
rs35502531
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The p.Lys618Ala variant should be considered a neutral variant for LS.
|
21247423 |
2011 |
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 |
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 |
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 |
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 |