rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
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
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency.
28286799
2017
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.
28125078
2017
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
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
Neoplastic Syndromes, Hereditary
A
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
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
25980754
2015
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
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
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
25637381
2015
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
A
0.700
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
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
26318770
2015
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
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
Neoplastic Syndromes, Hereditary
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
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Recurrent and founder mutations in the PMS2 gene.
22577899
2013
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
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
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
24055113
2013
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
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
Neoplastic Syndromes, Hereditary
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
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Integrated analysis of unclassified variants in mismatch repair genes.
21239990
2011
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.
21204794
2011
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
20186688
2010
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
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
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.
18273873
2008
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
17557300
2007
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Long-range PCR facilitates the identification of PMS2-specific mutations.
16619239
2006
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.
16144131
2005