|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses.
|
26866578 |
2016 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
|
27435373 |
2016 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.
|
26898890 |
2016 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.
|
26898890 |
2016 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.
|
27001570 |
2016 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Genetic features of Lynch syndrome in the Israeli population.
|
25430799 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
Biomarker
|
group |
CTD_human |
Microsatellite instability: an update.
|
25701956 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
|
26318770 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
|
25691505 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.
|
25871621 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
|
25691505 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
|
25512458 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
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
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report.
|
25850602 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
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
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
|
26318770 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
Biomarker
|
group |
CLINGEN |
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
|
25512458 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
A case of early onset rectal cancer of Lynch syndrome with a novel deleterious PMS2 mutation.
|
26232782 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.
|
26248088 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.
|
26437257 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
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
|
0.640 |
GeneticVariation
|
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
|
0.640 |
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 |