|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.
|
23629955 |
2013 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
|
20186688 |
2010 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.
|
27694994 |
2016 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
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
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1.
|
22848017 |
2013 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
|
27433846 |
2016 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
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
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.
|
28466842 |
2017 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
|
24728327 |
2014 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
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
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
|
27476653 |
2016 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
CLINVAR |
A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts.
|
19039682 |
2009 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
CLINVAR |
A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype.
|
9488480 |
1998 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I.
|
26391938 |
2015 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
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
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
|
28514183 |
2017 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Cancer genetic testing panels for inherited cancer susceptibility: the clinical experience of a large adult genetics practice.
|
25117502 |
2014 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
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
|
0.110 |
CausalMutation
|
group |
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
|
0.110 |
CausalMutation
|
group |
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
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
|
20587412 |
2010 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Integrated analysis of unclassified variants in mismatch repair genes.
|
21239990 |
2011 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan.
|
27589204 |
2016 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
CLINVAR |
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
|
18178629 |
2008 |
|
| Entrez Id: |
5395 |
| Gene Symbol: |
PMS2 |
PMS2
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.
|
16116158 |
2005 |