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 |
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
|
24362816 |
2014 |
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
|
23403630 |
2013 |
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
|
21404117 |
2011 |
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.
|
19669161 |
2010 |
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 |
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
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
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
|
18383312 |
2008 |
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis.
|
18337503 |
2008 |
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
|
18561205 |
2008 |
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
|
17312306 |
2007 |
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Immunohistochemical staining for mismatch repair proteins, and its relevance in the diagnosis of hereditary non-polyposis colorectal cancer.
|
17440950 |
2007 |
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer.
|
17505997 |
2007 |
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations.
|
17210669 |
2007 |
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
|
17510385 |
2007 |
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
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families.
|
16810763 |
2006 |
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 |
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
|
16995940 |
2006 |
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Mutations from Italian HNPCC families (G224D, G67R, N635S, and K618A) were all ineffective at reversing the phenotype of the MLH1-defective A2780 cells.
|
16982745 |
2006 |
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.
|
17054581 |
2006 |
rs63750217
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
|
16451135 |
2006 |
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.
|
15713769 |
2005 |
rs63750206
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis.
|
15563510 |
2005 |