rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
|
28528518 |
2018 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency.
|
28286799 |
2017 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.
|
28125078 |
2017 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
|
27433846 |
2016 |
rs121434629
|
|
A |
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 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.
|
25871621 |
2015 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
|
25637381 |
2015 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
|
25186627 |
2015 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
|
26318770 |
2015 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.
|
25194673 |
2014 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
|
23709753 |
2013 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Recurrent and founder mutations in the PMS2 gene.
|
22577899 |
2013 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
|
22949387 |
2013 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
|
24055113 |
2013 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
|
24027009 |
2013 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
|
21376568 |
2011 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Integrated analysis of unclassified variants in mismatch repair genes.
|
21239990 |
2011 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.
|
21204794 |
2011 |
rs121434629
|
|
A |
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 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.
|
18273873 |
2008 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
|
17557300 |
2007 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Long-range PCR facilitates the identification of PMS2-specific mutations.
|
16619239 |
2006 |
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.
|
16144131 |
2005 |