PMS2 Antibody

1. Identified a translocation disrupting MLH1 and three mutations in MSH6 and PMS2 that increase the risk of endometrial, colorectal, brain, and ovarian cancers. PMID: 28466842
2. Chronic smoking impacts the oral mucosa, leading to methylation of genes MRE11A, PMS2, XRCC1, and MLH3. This methylation results in a reduction in gene expression of MRE11A and PMS2, showing methylation levels greater than or equal to 50%. These findings suggest that smoking contributes to methylation and reduced expression of DNA repair genes. PMID: 29775861
3. Low PMS2 expression is associated with Colonic Adenoma and Adenocarcinoma. PMID: 29976631
4. A genetic analysis of 84 colorectal tumors revealed distinct characteristics in tumors from patients with PMS2-associated Lynch syndrome compared to colorectal tumors associated with defects in other mismatch repair genes. PMID: 29758216
5. Research indicates that the MSH6 Glu39Gly polymorphism is associated with the risk of developing sporadic colorectal cancer in the Polish population. This risk is further increased in combination with the wild-type allele of PMS2 IVS1-1121C > T. PMID: 28451866
6. MLH1 and PMS2 are imported into the nucleus through a classical nuclear import pathway. PMID: 29175432
7. This is the first documented case of synchronous colon and prostate cancers, with isolated PMS2 loss observed in the colon cancer but intact DNA mismatch repair protein expressions present in the prostate cancer. PMID: 30061258
8. Data suggest that MLH1(L749P) and MLH1(Y750X) make PMS2 susceptible to calyculin-induced degradation, suggesting that the specific degradation of PMS2 could be a novel mechanism to regulate the MLH1-PMS2 heterodimer protein MutLalpha. PMID: 28767177
9. Mutation scanning results on the largest published cohort to date confirm that the highest detection rate of PMS2 mutations is found in patients with a tumor showing isolated loss of PMS2 expression in addition to germline PMS2 mutation in patients with Lynch syndrome or mismatch repair deficiency syndrome. PMID: 27435373
10. Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumors. PMID: 28805995
11. Loss of PMS2 expression is associated with colorectal carcinoma. PMID: 28651545
12. A novel pathogenic PMS2 mutation was identified in a mismatch repair deficiency patient. PMID: 27017610
13. High PMS2 expression is associated with the development of genetic instability and is linked to tumor aggressiveness and early PSA recurrence in prostate cancer. PMID: 27803051
14. Data suggest that yeast Mlh1-Mlh3 heterodimer does not exhibit the hallmarks of a canonical (structure-selective) Holliday junction resolvase/endonuclease. Multiple Mlh1-Mlh3 heterodimers appear to load onto DNA to form an activated polymer that cleaves DNA; human MLH1-PMS2 exhibits similar characteristics. (MLH = mutL homolog protein; PMS2 = post meiotic segregation increased 2 protein) PMID: 28453523
15. In an individual with mismatch repair deficiency syndrome, PMS2 was found to be homozygously inactivated by a complex chromosomal rearrangement. PMID: 27329736
16. Research shows that DNA repair genes (fan1 and pms2) significantly modify age at onset in Huntington's Disease and Spinocerebellar Ataxias, suggesting a common pathogenic mechanism that could operate through the observed somatic expansion of repeats. PMID: 27044000
17. This case study indicates that while the FOXL2 402C > G mutation determines the development of granulosa cell tumor, the PMS2 mutation may be the initial driver of carcinogenesis. Immunohistochemistry-based tumor testing for mismatch repair gene expression may be necessary for granulosa cell tumors to determine their malignant potential or if they are part of Lynch syndrome. PMID: 28347324
18. A total of 201 unique disease-predisposing mismatch repair gene mutations were identified in 369 Lynch syndrome families. These mutations affected MLH1 in 40%, MSH2 in 36%, MSH6 in 18%, and PMS2 in 6% of the families. PMID: 27601186
19. Molecular mechanisms linking MMR with chemoresistance suggest that stabilization of PMS2 expression might be useful in overcoming cisplatin resistance in EOC. PMID: 26423401
20. PMS2 mutation carriers with retention of RNA expression developed CRC 9 years later than those with loss of RNA expression. If confirmed, this finding could justify delaying surveillance in these cases. Cancer risk was not influenced by a parent-of-origin effect. PMID: 26110232
21. Individuals carrying a MMR gene (MLH1, MSH2, PMS2, or MSH6) mutation have an increased risk of developing cancers at multiple sites, most notably colorectal and endometrial carcinomas. PMID: 26895986
22. Germline mutations in MLH1, MSH2, MSH6, and PMS2 have been shown to cause Lynch syndrome. A total of 234 monoallelic PMS2 mutation carriers from 170 families were included. PMID: 25856668
23. Loss of MLH-1/PMS-2 expression was associated with right-colon location, poor and mucinous differentiation, and dense lymphocytic infiltration in colorectal adenocarcinoma. PMID: 26097592
24. Heterozygous germline mutations in any of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2, cause Lynch syndrome (LS), an autosomal dominant cancer predisposition syndrome. PMID: 26544533
25. A reliable tool for accurate molecular analysis of genes containing multiple copies of highly homologous sequences, improving PMS2 molecular analysis for patients with Lynch syndrome. PMID: 26320870
26. These results demonstrate a functional role for PMS2 in protecting against prostate cancer progression by enhancing apoptosis of prostate cancer cells and inhibiting cell proliferation, migration, and invasion in vitro, as well as tumor growth in vivo. PMID: 26036629
27. MutSalpha, proliferating cell nuclear antigen, and replication factor C activate MutLalpha endonuclease to remove the 1-nucleotide Okazaki fragment flaps. PMID: 26224637
28. A genotype-phenotype study of c.2002A>G demonstrates that an extremely low level of PMS2 expression likely delays cancer onset, a feature that could be exploited in cancer preventive interventions. PMID: 25691505
29. Research reports a high frequency of MLH1 germline mutations in Lynch syndrome patients with colorectal and endometrial carcinoma, demonstrating isolated loss of PMS2 immunohistochemical expression. PMID: 25871621
30. Information was collected on 66 MLH1, 24 MSH2, and 6 PMS2 nucleotide variants reported to be associated with altered expression of at least one of these alternative transcripts. Many of these variants are reported as splicing mutations. PMID: 24989436
31. Another MMR protein, PMS2, also displayed a decline in expression during later stages of transformation. PMID: 25215298
32. Some uterine carcinosarcomas show loss of PMS2. PMID: 25083964
33. Data indicate that 98 mismatch repair gene PMS2 families were ascertained from family cancer clinics, including a total of 2,548 family members and 377 proven mutation carriers. PMID: 25512458
34. Large deletions in the PMS2 gene are the most frequent mutations found in Spanish Lynch syndrome families. PMID: 23837913
35. MLH1 or PMS2 knockdown conferred TMZ resistance. In recurrent GBM tumors, the expression of MLH1 and PMS2 was reduced compared to primary tumors. PMID: 24259277
36. Immunohistochemistry revealed loss of expression for MLH1, MSH2, MSH6, and PMS2 in 15%, 21%, 13%, and 15% of cases, respectively. A perfect association was found between MMR immunohistochemical analyses and MSI molecular investigation. PMID: 24643686
37. This report specifically focuses on the protein expression profile and germline mutations of MSH6 and PMS2 genes in 50 Malaysian Lynch syndrome suspected patients. PMID: 24072394
38. Promoter methylation of MLH1, PMS2, MSH2, and p16 is a phenomenon observed in advanced-stage HCCs. PMID: 24400091
39. 3' deletions in the PMS2 gene are not associated with colon cancer. PMID: 23288611
40. PMS2 expression in endometrial carcinoma was associated with BMI, however, a link between BMI and the maintenance of the DNA mismatch repair system is not supported. PMID: 24444820
41. Data suggest that endometrial cancer can be screened by testing for tumor MLH1 methylation in individuals with MLH1 immunohistochemistry loss, and germline mutations exhibiting loss of MSH6, MSH2, or PMS2, or loss of MLH1/PMS2 with the absence of MLH1 methylation. PMID: 24323032
42. Pathogenic PMS2 mutations were detected in 69% of patients harboring LS-associated tumors with loss of PMS2 expression. PMID: 23709753
43. The role of co-existing germline P53 and PMS2 mutations in familial cancer syndrome development is under investigation. PMID: 23981578
44. Data show no evidence for deleterious mutations in PMS2, suggesting that these findings are sufficient to exclude PMS2 as a gene for mutation testing in individuals with suspected LS based on tumoral loss of both MLH1 and PMS2 expression. PMID: 23017166
45. hPMS2 directly binds to activated akt and induces hPMS2 degradation. PMID: 23499907
46. Data indicate that c.137G>T and exon 10 deletion are founder mutations in the PMS2 gene. PMID: 22577899
47. Seven samples in a Lynch syndrome cohort were identified with deletions in the 3' region of PMS2, including three previously reported samples with deletions of Exons 13-15 (two samples) and Exons 14-15. PMID: 23012243
48. There is no evidence that the SNPs associated with colorectal cancer (CRC) in the general population are modifiers of the risk for MLH1, MSH2, MSH6, and PMS2 MMR gene mutation carriers overall. PMID: 23434150
49. Deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL is associated with colorectal tumors. PMID: 22585707
50. Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 is a novel cause of Lynch syndrome. PMID: 22461402

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HGNC: 9122

OMIM: 276300

KEGG: hsa:107984056

STRING: 9606.ENSP00000265849

UniGene: Hs.632637