|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
|
27696107 |
2017 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.
|
28640387 |
2017 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.
|
26898890 |
2016 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Improving performance of multigene panels for genomic analysis of cancer predisposition.
|
26845104 |
2016 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
|
26895986 |
2016 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
|
27435373 |
2016 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
|
26110232 |
2016 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan.
|
27589204 |
2016 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
PMS2 monoallelic mutation carriers: the known unknown.
|
25856668 |
2016 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Improving performance of multigene panels for genomic analysis of cancer predisposition.
|
26845104 |
2016 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
|
25637381 |
2015 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
CausalMutation
|
disease |
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 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.
|
25477341 |
2015 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
CausalMutation
|
disease |
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 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
GeneticVariation
|
disease |
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 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
|
25512458 |
2015 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
CausalMutation
|
disease |
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 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
|
24763289 |
2014 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Recurrent and founder mutations in the PMS2 gene.
|
22577899 |
2013 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
|
23709753 |
2013 |