Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 GeneticVariation disease BEFREE We present a case that developed metastatic CRC, which we diagnosed as LS in association with a very rarely seen PMS2 and MSH6 germline mutation. 31845022 2020
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 GeneticVariation disease BEFREE Overall, 17/23 (74%) subjects carried LS-associated gene variants (MLH1: 10; MSH2: 4; MSH6: 2; PMS2: 1), with 2 alleles (MLH1 c.677G > T and MSH2 с.1906G > C) detected twice. 31491536 2020
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 Biomarker disease BEFREE Pathogenic variants affecting MLH1, MSH2, MSH6, and PMS2 cause Lynch syndrome and result in different but imprecisely known cancer risks. 31337882 2020
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 GeneticVariation disease BEFREE Germline variants in the DNA mismatch repair (MMR) gene PMS2 cause 1-14% of all Lynch Syndrome cancers. 31616036 2020
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 Biomarker disease BEFREE Four g.MMR genes (MLH1, MSH2, MSH6, and PMS2) were analyzed by next generation sequencing in 1058 cancer patients (614 male, 444 female; mean age 65.6 years) without past diagnosis of LS. 31386297 2019
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 GeneticVariation disease BEFREE Our study did not confirm previous reports of genetic anticipation in PMS2-associated Lynch syndrome. 30824524 2019
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 GeneticVariation disease BEFREE Lynch syndrome (LS) is an autosomal dominant inherited disorder that is associated with an increased predisposition to certain cancers caused by loss-of-function mutations in one of four DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2). 30653781 2019
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 Biomarker disease BEFREE Furthermore, isolated loss of MSH6 or PMS2 protein predicts LS. 30877237 2019
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 GeneticVariation disease BEFREE Inherited mutations in DNA mismatch repair (MMR) genes, MLH1, MSH2, and MSH6, account for approximately 90% of LS, while a relatively small number of LS families segregate a PMS2 mutation. 30946512 2019
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 Biomarker disease BEFREE We highlight an <i>MLH1</i> variant in the colonic adenomas in an obligate Lynch syndrome carrier that resulted in PMS2 protein loss in the absence of mutations of the <i>PMS2</i> gene. 31649038 2019
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 GeneticVariation disease BEFREE Carrying PMS2 germline mutations (c.943C>T) confers an extremely high susceptibility of suffering from LS-associated cancers. 31056861 2019
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 GeneticVariation disease BEFREE Fifty-six subjects had pathogenic variants associated with Lynch syndrome (25 with mutations in MSH2, 24 with mutations in MLH1, 5 with mutations in MSH6, and 2 with mutations in PMS2) and 10 subjects had pathogenic variants associated with familial adenomatous polyposis. 29146522 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 Biomarker disease BEFREE In a genetic analysis of 84 colorectal tumors, we found tumors from patients with PMS2-associated Lynch syndrome to be distinct from colorectal tumors associated with defects in other mismatch repair genes. 29758216 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 GeneticVariation disease BEFREE MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer. 29345684 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 GeneticVariation disease BEFREE Lynch Syndrome (LS) is associated with germline mutations in one of the mismatch repair (MMR) genes, including MutL homolog 1 (MLH1), MutS homolog 2 (MSH2), MSH6, PMS1 homolog 2, mismatch repair system component (PMS2), MLH3 and MSH3. 29568967 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 GeneticVariation disease BEFREE Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers. 28933000 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 Biomarker disease BEFREE Lynch syndrome (LS) patients with isolated PMS2 loss in the colon cancer, while intact MMR in the prostate cancer, are exceedingly rare.Herein, we report such a case. 30061258 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 GeneticVariation disease BEFREE Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAF <sup>wild type</sup>/normal MLH1 sequence. 28608265 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 GeneticVariation disease BEFREE Hereditary cancer screening (HCS) for germline variants in the 3' exons of PMS2, a mismatch repair gene implicated in Lynch syndrome, is technically challenging due to homology with its pseudogene PMS2CL. 30268105 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 AlteredExpression disease BEFREE PMS2 and MSH6 protein expression in metastatic and matched primary tumor was assessed using clinically validated immunohistochemistry methods for Lynch syndrome screening. 30340772 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 GeneticVariation disease BEFREE SNP association study in PMS2-associated Lynch syndrome. 29147930 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 GeneticVariation disease BEFREE Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by germline mutations in one of the major genes involved in mismatch repair (MMR): MLH1, MSH2, MSH6 and more rarely, PMS2. 29575718 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 GeneticVariation disease BEFREE These methods enable efficient and sensitive Lynch syndrome screening for 3' PMS2 copy-number mutations and may be applied similarly to other genomic regions with highly homologous pseudogenes. 29792936 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 PosttranslationalModification disease BEFREE When losses of both MLH1 and PMS2 proteins are observed by IHC, MLH1 promoter methylation analysis is conducted to distinguish Lynch syndrome-associated endometrial cancer from sporadic cancer. 29783979 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.800 GeneticVariation disease BEFREE Lynch syndrome (LS) is associated with germ-line mutations in the DNA mismatch repair (MMR) genes, mainly MLH1, MSH2, MSH6, and PMS2. 29405992 2018