Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 AlteredExpression BEFREE Enhanced Tumoral MLH1-Expression in MLH1-/PMS2-Deficient Colon Cancer Is Indicative of Sporadic Colon Cancer and Not HNPCC. 30613919

2019

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Lynch syndrome is a cancer-predisposing syndrome inherited in an autosomal-dominant manner, wherein colon cancer and endometrial cancer develop frequently in the family, it results from a loss-of-function mutation in one of four different genes (MLH1, MSH2, MSH6, and PMS2) encoding mismatch repair proteins. 31273487

2019

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE MSI-H phenotype and PMS2 mutation in the colon cancer were confirmed by microsatellite instability (MSI) PCR and next-generation sequencing (NGS), respectively. 30061258

2018

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker BEFREE This cohort study included 88 individuals affected with a PMS2-deficient CRC from the Colon Cancer Family Registry Cohort. 26895986

2016

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker BEFREE This study included 1966 (56% female) carriers of an MMR gene mutation (719 MLH1, 931 MSH2, 211 MSH6 and 105 PMS2) who were recruited from the USA, Canada, Australia and New Zealand into the Colon Cancer Family Registry between 1997 and 2012. 27063605

2016

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Using data from the Colon Cancer Family Registry, we compared the proportion of childhood cancers (diagnosed before 18 years of age) in the first-, second-, and third-degree relatives of 781 probands with a pathogenic mutation in one of the MMR genes; MLH1 (n = 275), MSH2 (n = 342), MSH6 (n = 99), or PMS2 (n = 55) or in EPCAM (n = 10) (Lynch syndrome families), with that of 5073 probands with MMR-deficient colorectal cancer (non-Lynch syndrome families). 25963852

2015

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE From the Colon Cancer Family Registry, we identified 10 carriers who had both a MUTYH mutation (6 with c.1187G>A p.(Gly396Asp), 3 with c.821G>A p.(Arg274Gln), and 1 with c.536A>G p.(Tyr179Cys)) and a MMR gene mutation (3 in MLH1, 6 in MSH2, and 1 in PMS2), 375 carriers of a single (monoallelic) MUTYH mutation alone, and 469 carriers of a MMR gene mutation alone. 26202870

2015

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously known as hereditary nonpolyposis colorectal cancer, is an autosomal dominant condition caused by a germline mutation in 1 of 4 DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6, or PMS2. 24051481

2014

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE We obtained data from the Colon Cancer Family Registry for a cohort of 127 women who had a diagnosis of endometrial cancer and who carried a mutation in one of four MMR genes (30 carried a mutation in MLH1, 72 in MSH2, 22 in MSH6, and 3 in PMS2). 23385444

2013

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker BEFREE Here, we take a step toward an analogous system for the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) that confer colon cancer susceptibility in Lynch syndrome by calibrating in silico tools to estimate prior probabilities of pathogenicity for MMR gene missense substitutions. 22949387

2013

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker BEFREE This retrospective cohort study comprised 79 carriers of germline mutation in a MMR gene (18 MLH1, 55 MSH2, 4 MSH6, and 2 PMS2) from the Colon Cancer Family Registry who had had a proctectomy for index rectal cancer. 23358792

2013

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 families enrolled in the Colon Cancer Family Registry, were genotyped for the single nucleotide polymorphisms (SNPs): rs16892766 (8q23.3), rs6983267 (8q24.21), rs719725 (9p24), rs10795668 (10p14), rs3802842 (11q23.1), rs4444235 (14q22.2), rs4779584 (15q13.3), rs9929218 (16q22.1), rs4939827 (18q21.1), rs10411210 (19q13.1) and rs961253 (20p12.3). 23434150

2013

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker BEFREE We estimated the association between BMI at age 18-20 years and endometrial cancer risk for mismatch repair gene mutation carriers and, as a comparison group, noncarriers using 601 female carriers of a germline mutation in a mismatch repair gene (245 MLH1, 299 MSH2, 38 MSH6, and 19 PMS2) and 533 female noncarriers from the Colon Cancer Family Registry using a weighted Cox proportional hazards regression. 21422863

2011

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker BEFREE Risk of metachronous CRC was estimated for 382 MMR gene mutation carriers (172 MLH1, 167 MSH2, 23 MSH6 and 20 PMS2) from the Colon Cancer Family Registry, who had surgery for their first colon cancer, using retrospective cohort analysis. 21193451

2011