Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
PMS2 monoallelic mutation carriers: the known unknown.
|
25856668 |
2016 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.
|
27017610 |
2016 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.
|
27037742 |
2016 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
|
26318770 |
2015 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
|
26116798 |
2015 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
|
25512458 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
|
25512458 |
2015 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
|
26318770 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
|
26318770 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.
|
24728189 |
2014 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.
|
24728189 |
2014 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
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 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
Evaluation of a new panel of six mononucleotide repeat markers for the detection of DNA mismatch repair-deficient tumours.
|
23652311 |
2013 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.
|
23012243 |
2013 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Recurrent and founder mutations in the PMS2 gene.
|
22577899 |
2013 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
Recurrent and founder mutations in the PMS2 gene.
|
22577899 |
2013 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours.
|
22120844 |
2012 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
|
20205264 |
2010 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
|
20205264 |
2010 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
|
20205264 |
2010 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |