|
Rectal Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
These results suggest that MSH3 and PMS1 polymorphisms may play important roles in AEs prediction and prognosis of rectal cancer patients receiving postoperative CRT, which can be potential genetic biomarkers for rectal cancer personalized treatment.
|
30590005 |
2019 |
|
Dermatitis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
PMS1 rs1233255 had an impact on the occurrence of grade ≥2 dermatitis.
|
30590005 |
2019 |
|
Secondary malignant neoplasm of lymph node
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Patients with defects in MLH2 and PMS2 also had large tumors that exhibited extraserosal invasion and infrequent lymph node metastasis (P<0.05).
|
29849807 |
2018 |
|
Lymphatic Metastasis
|
0.010 |
Biomarker
|
disease |
BEFREE |
The SNPs in solute carrier family 28 member 3 (SLC28A3), breast cancer 1 (BRCA1), ribonucleotide reductase regulators subunit M2 (RRM2), PMS1 homolog 2 (PMS2), cytidine deaminase (CDA), epoxide hydrolase 1 (EPHX1), heterogenous ribonucleoprotein particle-associated with lethal yellow (RALY), Siglec-3 (CD33), B cell lymphoma 10 (BCL10), ETS variant 1 (ETV1), macrophage stimulating 1 receptor 1 (MST1R), lysine methyltransferase 2B (KMT2B), B cell lymphoma 2 (BCL2), U6 small nuclear RNA-associated Sm-like protein 3 (LSM3), thyroid transcription factor 1 (TTF1) and mitogen-activated protein 3 kinase 1 (MAP3K1) were significantly associated with lymphatic metastasis (P<0.05).
|
28672935 |
2017 |
|
Squamous cell carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The mismatch repair gene hPMS1 (human postmeiotic segregation1) is down regulated in oral squamous cell carcinoma.
|
23608172 |
2013 |
|
Fanconi Anemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Mutations in BRCA genes cannot account for all cases of HBOC, indicating that the remaining cases can be attributed to the involvement of constitutive epimutations or other cancer susceptibility genes, which include Fanconi anemia (FA) cluster (FANCD2, FANCA and FANCC), mismatch repair (MMR) cluster (MLH1, MSH2, PMS1, PMS2 and MSH6), DNA repair cluster (ATM, ATR and CHK1/2), and tumor suppressor cluster (TP53, SKT11 and PTEN).
|
23779253 |
2013 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.010 |
Biomarker
|
disease |
BEFREE |
Mutations in BRCA genes cannot account for all cases of HBOC, indicating that the remaining cases can be attributed to the involvement of constitutive epimutations or other cancer susceptibility genes, which include Fanconi anemia (FA) cluster (FANCD2, FANCA and FANCC), mismatch repair (MMR) cluster (MLH1, MSH2, PMS1, PMS2 and MSH6), DNA repair cluster (ATM, ATR and CHK1/2), and tumor suppressor cluster (TP53, SKT11 and PTEN).
|
23779253 |
2013 |
|
Prostatic Intraepithelial Neoplasias
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Immunohistochemical analysis of MMR proteins showed maximum loss of hPMS1 expression in cases of CaP and PIN while no loss in expression of MMR proteins was observed in BPH cases.
|
23168703 |
2012 |
|
Carcinoma of lung
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways, and 6 SNPs were remained in the final model after multivariate stepwise Cox regression analysis: ATM rs189037; MRE11A rs11020802; ERCC2 rs1799793; MBD4 rs140693; XRCC1 rs25487, and PMS1 rs5742933.
|
21739480 |
2012 |
|
Primary malignant neoplasm of lung
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways, and 6 SNPs were remained in the final model after multivariate stepwise Cox regression analysis: ATM rs189037; MRE11A rs11020802; ERCC2 rs1799793; MBD4 rs140693; XRCC1 rs25487, and PMS1 rs5742933.
|
21739480 |
2012 |
|
Benign Prostatic Hyperplasia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Immunohistochemical analysis of MMR proteins showed maximum loss of hPMS1 expression in cases of CaP and PIN while no loss in expression of MMR proteins was observed in BPH cases.
|
23168703 |
2012 |
|
Aplastic Anemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
We prospectively investigated the presence of human leucocyte antigen (HLA)-DR15, a minor population of paroxysmal nocturnal haemoglobinuria (PNH)-type cells, and antibodies to the recently identified autoantigen postmeiotic segregation increased 1 (PMS1) in 103 children with AA enrolled in a multicentre study.
|
18537977 |
2008 |
|
Paroxysmal nocturnal hemoglobinuria
|
0.010 |
Biomarker
|
disease |
BEFREE |
We prospectively investigated the presence of human leucocyte antigen (HLA)-DR15, a minor population of paroxysmal nocturnal haemoglobinuria (PNH)-type cells, and antibodies to the recently identified autoantigen postmeiotic segregation increased 1 (PMS1) in 103 children with AA enrolled in a multicentre study.
|
18537977 |
2008 |
|
Microscopic Polyarteritis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The spectrum of MPA tumor mutations was distinct from that observed in Mlh1(-/-);Apc(1638N) mice, implicating the first potential role for MLH1/PMS1 in tumor suppression.
|
18551179 |
2008 |
|
Marinesco-Sjogren syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
However, the G13D substitution was more frequent in HNPCC (3/4, 75%) and sporadic MSI-H (7/11, 63.6%) tumors compared to sporadic MSS tumors (11/53, 20.4%) (P <0.01).
|
16760302 |
2006 |
|
Dermatomyositis
|
0.010 |
Biomarker
|
disease |
BEFREE |
These results suggested that hMSH2 and hPMS1 may be useful as CD4+ helper T cell antigens for immunotherapy of pancreatic cancer patients and that serum IgG antibodies may be useful for diagnosis of patients with pancreatic ductal adenocarcinoma and DM/PM.
|
15856462 |
2005 |
|
Leukemia, T-Cell
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, methylation-specific PCR indicated methylation of hPMS1 promoter in all of four ATL cases examined. hPMS1 expression, but not hMSH2 expression, was restored by treatment with a DNA demethylation agent, 5-aza-2'-deoxycytidine, suggesting that methylation plays a crucial role in inhibition of the hPMS1 gene expression in ATL.
|
15682421 |
2005 |
|
Adult T-Cell Lymphoma/Leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, methylation-specific PCR indicated methylation of hPMS1 promoter in all of four ATL cases examined. hPMS1 expression, but not hMSH2 expression, was restored by treatment with a DNA demethylation agent, 5-aza-2'-deoxycytidine, suggesting that methylation plays a crucial role in inhibition of the hPMS1 gene expression in ATL.
|
15682421 |
2005 |
|
Pancreatic Neoplasm
|
0.010 |
Biomarker
|
disease |
LHGDN |
Immune responses to DNA mismatch repair enzymes hMSH2 and hPMS1 in patients with pancreatic cancer, dermatomyositis and polymyositis.
|
15856462 |
2005 |
|
Polymyositis
|
0.010 |
Biomarker
|
disease |
BEFREE |
These results suggested that hMSH2 and hPMS1 may be useful as CD4+ helper T cell antigens for immunotherapy of pancreatic cancer patients and that serum IgG antibodies may be useful for diagnosis of patients with pancreatic ductal adenocarcinoma and DM/PM.
|
15856462 |
2005 |
|
Adult type dermatomyositis
|
0.010 |
Biomarker
|
disease |
BEFREE |
These results suggested that hMSH2 and hPMS1 may be useful as CD4+ helper T cell antigens for immunotherapy of pancreatic cancer patients and that serum IgG antibodies may be useful for diagnosis of patients with pancreatic ductal adenocarcinoma and DM/PM.
|
15856462 |
2005 |
|
Pancreatic Ductal Adenocarcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
These results suggested that hMSH2 and hPMS1 may be useful as CD4+ helper T cell antigens for immunotherapy of pancreatic cancer patients and that serum IgG antibodies may be useful for diagnosis of patients with pancreatic ductal adenocarcinoma and DM/PM.
|
15856462 |
2005 |
|
Hodgkin Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Probands from 21 kindreds were classified as HNPCC (3), HNPCC-like (5), and HNPCC-variant (13); seen and followed by Clinical Genetics at Memorial Hospital the kindreds were assessed for the occurrence of NHL or HD.
|
12400605 |
2002 |
|
Lymphoma
|
0.010 |
AlteredExpression
|
group |
LHGDN |
The hMSH2 transcript was present in all cases of lymphoma, while the expression of hMLH1 and hPMS1 was significantly low in some large B-cell lymphomas (four and five out of 14 cases, respectively) and in mantle cell lymphomas of the blastoid type (two out of two cases).
|
11999575 |
2002 |
|
Lymphoma, Non-Hodgkin
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Probands from 21 kindreds were classified as HNPCC (3), HNPCC-like (5), and HNPCC-variant (13); seen and followed by Clinical Genetics at Memorial Hospital the kindreds were assessed for the occurrence of NHL or HD.
|
12400605 |
2002 |