|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Integrated analysis of unclassified variants in mismatch repair genes.
|
21239990 |
2011 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Recurrent and founder mutations in the PMS2 gene.
|
22577899 |
2013 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
|
18178629 |
2008 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
|
27696107 |
2017 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
|
23709753 |
2013 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
|
20205264 |
2010 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
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
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
|
24027009 |
2013 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.
|
26898890 |
2016 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.
|
20487569 |
2010 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.
|
21204794 |
2011 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer.
|
19479271 |
2009 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Long-range PCR facilitates the identification of PMS2-specific mutations.
|
16619239 |
2006 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
|
24027009 |
2013 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
|
22949387 |
2013 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
|
10480359 |
1999 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.
|
23012243 |
2013 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
|
21376568 |
2011 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
|
23709753 |
2013 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Improving performance of multigene panels for genomic analysis of cancer predisposition.
|
26845104 |
2016 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).
|
16472587 |
2006 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.
|
15887124 |
2005 |