rs63750217
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
A
0.720
GeneticVariation
CLINVAR
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
23403630
2013
rs63750217
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
A
0.720
GeneticVariation
CLINVAR
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
21404117
2011
rs63750217
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
A
0.720
CausalMutation
CLINVAR
Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis.
18337503
2008
rs63750217
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
A
0.720
CausalMutation
CLINVAR
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
17312306
2007
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
A
0.720
GeneticVariation
CLINVAR
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
17510385
2007
rs587778966
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
A
0.720
CausalMutation
CLINVAR
Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families.
16810763
2006
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
A
0.720
GeneticVariation
CLINVAR
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
16451135
2006
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
A
0.720
CausalMutation
CLINVAR
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.
15713769
2005
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
A
0.720
CausalMutation
CLINVAR
Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis.
15563510
2005