×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
GeneticVariation
CLINVAR
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
27435373
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
GeneticVariation
CLINVAR
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
26681312
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
27435373
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
26110232
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
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
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Inherited Mutations in Women With Ovarian Carcinoma.
26720728
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
27096365
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
27064304
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.
27001570
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.
27037742
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
PMS2 monoallelic mutation carriers: the known unknown.
25856668
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
GeneticVariation
CLINVAR
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
25512458
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
GeneticVariation
CLINVAR
Genetic features of Lynch syndrome in the Israeli population.
25430799
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I.
26391938
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
GeneticVariation
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
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
GeneticVariation
CLINVAR
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
25980754
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.
26437257
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
26318770
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
25637381
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
GeneticVariation
CLINVAR
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
26116798
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
25186627
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.
25477341
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
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
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
25691505
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome.
25648859
2015