×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Mismatch repair deficiency in phenotypically normal human cells.
7632227 1995
×
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
GeneticVariation
CLINVAR
Drastic genetic instability of tumors and normal tissues in Turcot syndrome.
9419979 1997
×
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
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 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
Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene.
10763829 2000
×
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
CausalMutation
CLINVAR
Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.
15077197 2004
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.
15256438 2004
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma.
15845562 2005
×
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
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer.
15887099 2005
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.
15887124 2005
×
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
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
Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.
16283678 2005
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
PMS2 mutations in childhood cancer.
16284300 2005
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).
16472587 2006
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study.
16616355 2006
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Long-range PCR facilitates the identification of PMS2-specific mutations.
16619239 2006
×
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
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
17557300 2007
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.
17993636 2008
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Neoplastic Syndromes, Hereditary
0.110
CausalMutation
CLINVAR
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
18178629 2008