|
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 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
|
22949379 |
2013 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Comprehensive functional assessment of MLH1 variants of unknown significance.
|
22736432 |
2012 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Influence of eight unclassified missense variants of the MLH1 gene on Lynch syndrome susceptibility.
|
21952876 |
2012 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
|
21404117 |
2011 |
|
rs63751194
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
|
20020535 |
2010 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.
|
20864636 |
2010 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
|
20020535 |
2010 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.
|
19419416 |
2009 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation.
|
18205192 |
2008 |
|
rs63751194
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients.
|
18618713 |
2008 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
|
18561205 |
2008 |
|
rs63751194
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations.
|
17210669 |
2007 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations.
|
17210669 |
2007 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
|
17312306 |
2007 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
|
17510385 |
2007 |
|
rs63751194
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.
|
16636019 |
2006 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair.
|
17135187 |
2006 |
|
rs63751194
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia.
|
16830052 |
2006 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
|
16995940 |
2006 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.
|
15713769 |
2005 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
|
15849733 |
2005 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer.
|
15731775 |
2005 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors.
|
12547705 |
2003 |
|
rs63751194
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
The HNPCC-related hMLH1 mutations T117M, V185G, R217C, G244D, R265C, V326A, and K618T, the polymorphisms I219V and R265H, and a hMLH1 splicing variant lacking exon 9 and 10 (hMLH1 Delta 9/10) were cloned.
|
11781295 |
2002 |