Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.
|
27606285 |
2016 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal?
|
26485756 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.
|
26552419 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Genetic features of Lynch syndrome in the Israeli population.
|
25430799 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.
|
26248088 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.
|
26300997 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
Biomarker
|
group |
CTD_human |
Microsatellite instability: an update.
|
25701956 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
HNPCC-associated pheochromocytoma: expanding the tumor spectrum.
|
25872134 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.
|
26437257 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
|
25559809 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
Evidence for presence of mismatch repair gene expression positive Lynch syndrome cases in India.
|
25420488 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome.
|
26053027 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome.
|
25648859 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.
|
26247049 |
2015 |
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 |
CausalMutation
|
group |
CLINVAR |
Molecular screening in Sicilian families with hereditary non-poliposis colorectal cancer (H.N.P.C.C.) syndrome: identification of a novel mutation in MSH2 gene.
|
25200962 |
2014 |
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 |
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 |
CausalMutation
|
group |
CLINVAR |
The mutational spectrum of Lynch syndrome in cyprus.
|
25133505 |
2014 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.
|
25117503 |
2014 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
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 |
CausalMutation
|
group |
CLINVAR |
Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm.
|
25006859 |
2014 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
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 |
High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.
|
25117503 |
2014 |