rs267608150
|
|
CTTCACACACA |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
rs267608150
|
|
CTTCACACACA |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
|
27435373 |
2016 |
rs267608150
|
|
CTTCACACACA |
0.700 |
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 |
rs267608150
|
|
CTTCACACACA |
0.700 |
CausalMutation |
CLINVAR |
Recurrent and founder mutations in the PMS2 gene.
|
22577899 |
2013 |
rs267608150
|
|
CTTCACACACA |
0.700 |
CausalMutation |
CLINVAR |
Population-based molecular screening for Lynch syndrome: implications for personalized medicine.
|
23733757 |
2013 |
rs267608150
|
|
CTTCACACACA |
0.700 |
CausalMutation |
CLINVAR |
Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.
|
21204794 |
2011 |
rs267608150
|
|
CTTCACACACA |
0.700 |
CausalMutation |
CLINVAR |
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
|
21376568 |
2011 |
rs267608150
|
|
CTTCACACACA |
0.700 |
CausalMutation |
CLINVAR |
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
|
20186688 |
2010 |
rs267608150
|
|
CTTCACACACA |
0.700 |
CausalMutation |
CLINVAR |
The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.
|
20682701 |
2010 |
rs267608150
|
|
CTTCACACACA |
0.700 |
CausalMutation |
CLINVAR |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |
rs267608150
|
|
CTTCACACACA |
0.700 |
CausalMutation |
CLINVAR |
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
|
18178629 |
2008 |
rs267608150
|
|
CTTCACACACA |
0.700 |
CausalMutation |
CLINVAR |
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
|
17312306 |
2007 |
rs267608150
|
|
CTTCACACACA |
0.700 |
CausalMutation |
CLINVAR |
Long-range PCR facilitates the identification of PMS2-specific mutations.
|
16619239 |
2006 |
rs267608150
|
|
CTTCACACACA |
0.700 |
CausalMutation |
CLINVAR |
The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer.
|
16817031 |
2006 |