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 |
Mismatch repair deficiency in phenotypically normal human cells.
|
7632227 |
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 |
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 |
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 |
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 |
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 |
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 |
PMS2 mutations in childhood cancer.
|
16284300 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
CausalMutation |
CLINVAR |
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
|
18178629 |
2008 |