|
rs35502531
|
|
|
0.020 |
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
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The p.Lys618Ala variant should be considered a neutral variant for LS.
|
21247423 |
2011 |
|
rs63750217
|
|
|
0.010 |
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 |
|
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 |
|
rs63751194
|
|
|
0.010 |
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 |
|
rs587778937
|
|
|
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 |
|
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 |
|
rs1799977
|
|
|
0.010 |
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 |
|
rs587778914
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families.
|
22395473 |
2012 |
|
rs63749818
|
|
|
0.010 |
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 |
|
rs63750211
|
|
|
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 |
|
rs63750693
|
|
|
0.010 |
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 |
|
rs587778966
|
|
|
0.010 |
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 |
|
rs63749939
|
|
|
0.010 |
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
|
|
|
0.010 |
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 |
|
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 |