|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
GeneticVariation
|
BEFREE |
Thus, the H329P mutation present in the germline can be considered as having an aetiological role in this HNPCC family.
|
9272156 |
1997 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?
|
11726306 |
2001 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
|
16083711 |
2005 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
|
17510385 |
2007 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
|
21404117 |
2011 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
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 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue.
|
9272156 |
1997 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
|
21120944 |
2011 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
|
22949387 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
|
17594722 |
2007 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
|
20020535 |
2010 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer.
|
25003300 |
2014 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A human compound heterozygote for two MLH1 missense mutations.
|
9326924 |
1997 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists.
|
23535968 |
2013 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
|
22753075 |
2012 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer.
|
10375096 |
1999 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.
|
23408351 |
2013 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. Online.
|
10627141 |
1998 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
|
24310308 |
2014 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.
|
11839723 |
2002 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.
|
25452455 |
2015 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.
|
8993976 |
1997 |