Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR A multi-gene panel study in hereditary breast and ovarian cancer in Colombia. 28528518

2018
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency. 28286799

2017
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma. 28125078

2017
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846

2016
dbSNP: rs121434629
rs121434629
PMS2
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
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs121434629
rs121434629
PMS2
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
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015
dbSNP: rs121434629
rs121434629
PMS2
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
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770

2015
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. 25194673

2014
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 23709753

2013
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899

2013
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387

2013
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Actionable, pathogenic incidental findings in 1,000 participants' exomes. 24055113

2013
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene. 24027009

2013
dbSNP: rs121434629
rs121434629
PMS2
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
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990

2011
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations. 21204794

2011
dbSNP: rs121434629
rs121434629
PMS2
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
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922

2008
dbSNP: rs121434629
rs121434629
PMS2
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
dbSNP: rs121434629
rs121434629
PMS2
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
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239

2006
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. 16144131

2005