Gene: PMS2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200640585
rs200640585
PMS2
0.710 GeneticVariation BEFREE Carrying PMS2 germline mutations (c.943C>T) confers an extremely high susceptibility of suffering from LS-associated cancers. 31056861

2019
dbSNP: rs587778617
rs587778617
PMS2
0.710 GeneticVariation BEFREE Carrying PMS2 germline mutations (c.943C>T) confers an extremely high susceptibility of suffering from LS-associated cancers. 31056861

2019
dbSNP: rs587778617
rs587778617
PMS2
A 0.710 CausalMutation CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232

2016
dbSNP: rs200640585
rs200640585
PMS2
A 0.710 CausalMutation CLINVAR

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 Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing. 27863258

2017
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. 28596308

2017
dbSNP: rs758304323
rs758304323
PMS2
C 0.700 GeneticVariation CLINVAR DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer. 28640387

2017
dbSNP: rs758304323
rs758304323
PMS2
C 0.700 GeneticVariation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017
dbSNP: rs786203073
rs786203073
PMS2
T 0.700 CausalMutation CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560

2017
dbSNP: rs876658964
rs876658964
PMS2
T 0.700 GeneticVariation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

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 Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373

2016
dbSNP: rs141577476
rs141577476
PMS2
A 0.700 CausalMutation CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668

2016
dbSNP: rs267608149
rs267608149
PMS2
TA 0.700 CausalMutation CLINVAR Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. 26895986

2016
dbSNP: rs267608150
rs267608150
PMS2
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
dbSNP: rs267608150
rs267608150
PMS2
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
dbSNP: rs267608153
rs267608153
PMS2
T 0.700 GeneticVariation CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232

2016
dbSNP: rs267608172
rs267608172
PMS2
T 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
dbSNP: rs573125799
rs573125799
PMS2
T 0.700 CausalMutation CLINVAR Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. 26895986

2016
dbSNP: rs587779333
rs587779333
PMS2 ; AIMP2
C 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs587779333
rs587779333
PMS2 ; AIMP2
C 0.700 GeneticVariation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016
dbSNP: rs587779343
rs587779343
PMS2
A 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
dbSNP: rs587779343
rs587779343
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: rs587780059
rs587780059
PMS2 ; AIMP2
T 0.700 CausalMutation CLINVAR Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 27476653

2016