×
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
CausalMutation
CLINVAR
Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.
23629955
2013
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
GeneticVariation
CLINVAR
PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance.
20624957
2010
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
GeneticVariation
CLINVAR
Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?
28503822
2018
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
20186688
2010
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.
27694994
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
24763289
2014
×
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
Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1.
22848017
2013
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
27433846
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.
21204794
2011
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.
28466842
2017
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
24728327
2014
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
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
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
27476653
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts.
19039682
2009
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
GeneticVariation
CLINVAR
PMS2 monoallelic mutation carriers: the known unknown.
25856668
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype.
9488480
1998
×
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
CausalMutation
CLINVAR
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.
20487569
2010
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
28514183
2017
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
GeneticVariation
CLINVAR
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
27978560
2017
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Cancer genetic testing panels for inherited cancer susceptibility: the clinical experience of a large adult genetics practice.
25117502
2014
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?
18709565
2008
×
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