|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.
|
24710284 |
2014 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
|
22949387 |
2013 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
LHGDN |
MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population.
|
15042510 |
2004 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
Patient vs. physician as the target of educational outreach about screening for an inherited susceptibility to colorectal cancer.
|
12537652 |
2002 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
The InSiGHT database: utilizing 100 years of insights into Lynch syndrome.
|
23443670 |
2013 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
LHGDN |
Clinical features and hMSH2/hMLH1 germ-line mutations in Chinese patients with hereditary nonpolyposis colorectal cancer.
|
18713544 |
2008 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
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 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
LHGDN |
New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife.
|
16500024 |
2006 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair.
|
24501230 |
2014 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
|
18561205 |
2008 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
LHGDN |
The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.
|
12454801 |
2002 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.
|
10612827 |
2000 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.
|
29212164 |
2017 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
|
21642682 |
2011 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.
|
15235030 |
2004 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
|
22102614 |
2012 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
LHGDN |
Identification of germline MSH2 gene mutations in endometrial cancer not fulfilling the new clinical criteria for hereditary nonpolyposis colorectal cancer.
|
14499697 |
2003 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families.
|
23729658 |
2013 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
LHGDN |
[Familial and genetic study in a large Chinese kindred with hereditary nonpolyposis colorectal cancer].
|
17407090 |
2007 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
LHGDN |
A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer.
|
18406877 |
2008 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases.
|
10995807 |
2000 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
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 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
Mismatch repair gene mutations in Chinese HNPCC patients.
|
18931482 |
2008 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
LHGDN |
Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer.
|
15571801 |
2004 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
|
27601186 |
2016 |