×
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
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
CausalMutation
CLINVAR
Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.
16116158
2005
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency.
22608206
2012
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.
16144131
2005
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts.
27273229
2017
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.
24323032
2014
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
GeneticVariation
CLINVAR
Transformation of MutL by ATP binding and hydrolysis: a switch in DNA mismatch repair.
10199405
1999
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry.
24790682
2014
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
The molecular basis of Turcot's syndrome.
7661930
1995
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
The mismatch repair gene hPMS2 is mutated in primary breast cancer.
17016615
2006
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
The hPMS2 exon 5 mutation and malignant glioma. Case report.
10223463
1999
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.
20531397
2010
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.
23012243
2013
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
GeneticVariation
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
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
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.
24728189
2014
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
18602922
2008
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
GeneticVariation
CLINVAR
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
18602922
2008
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
GeneticVariation
CLINVAR
Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site.
23435383
2013
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
GeneticVariation
CLINVAR
Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome.
26249686
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
GeneticVariation
CLINVAR
Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase.
11574484
2001
×
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
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
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
15872200
2005