rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
CausalMutation
CLINVAR
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
28528518
2018
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
CausalMutation
CLINVAR
Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing.
27863258
2017
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
CausalMutation
CLINVAR
Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.
28596308
2017
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
CausalMutation
CLINVAR
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
27433846
2016
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
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
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
CausalMutation
CLINVAR
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
26116798
2015
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
CausalMutation
CLINVAR
Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.
25194673
2014
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
CausalMutation
CLINVAR
Clinical problem-solving. Spot diagnosis.
24897087
2014
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
CausalMutation
CLINVAR
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
24055113
2013
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
CausalMutation
CLINVAR
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
24027009
2013
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
GeneticVariation
CLINVAR
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
23709753
2013
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
GeneticVariation
CLINVAR
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
24055113
2013
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
T
0.700
GeneticVariation
CLINVAR
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
24027009
2013
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
CausalMutation
CLINVAR
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
23709753
2013
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
CausalMutation
CLINVAR
Recurrent and founder mutations in the PMS2 gene.
22577899
2013
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
CausalMutation
CLINVAR
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
22949387
2013
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
CausalMutation
CLINVAR
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
21376568
2011
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
T
0.700
GeneticVariation
CLINVAR
Hepatic adenomas caused by somatic HNF1A mutations in children with biallelic mismatch repair gene mutations.
21182953
2011
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
GeneticVariation
CLINVAR
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
21376568
2011
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
CausalMutation
CLINVAR
Integrated analysis of unclassified variants in mismatch repair genes.
21239990
2011
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
GeneticVariation
CLINVAR
Integrated analysis of unclassified variants in mismatch repair genes.
21239990
2011
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
CausalMutation
CLINVAR
The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.
20531397
2010
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
CausalMutation
CLINVAR
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.
19156169
2009
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
A
0.700
CausalMutation
CLINVAR
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
18602922
2008
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
T
0.700
GeneticVariation
CLINVAR
Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.
18273873
2008