Mismatch Repair Endonuclease PMS2

A MutL protein and component of the DNA MISMATCH REPAIR system. Its ENDONUCLEASE activity introduces SINGLE-STRAND DNA BREAKS which create entry points for EXO1 exonuclease to remove the strand containing the mismatch. It may also function in DNA DAMAGE signaling.

Also Known As:

Networked: 35 relevant articles (0 outcomes, 1 trials/studies)

Bio-Agent Context: Research Results

Experts

1.	Clendenning, Mark: 3 articles (09/2013 - 05/2006)
2.	Capo-Chichi, Jose-Mario: 2 articles (05/2020 - 01/2019)
3.	Chetty, Runjan: 2 articles (05/2020 - 01/2019)
4.	McCarthy, Aoife J: 2 articles (05/2020 - 01/2019)
5.	Sabatini, Peter: 2 articles (05/2020 - 01/2019)
6.	Serra, Stefano: 2 articles (05/2020 - 01/2019)
7.	Morreau, Hans: 2 articles (01/2020 - 02/2006)
8.	Hopper, John L: 2 articles (09/2013 - 09/2005)
9.	Jenkins, Mark A: 2 articles (09/2013 - 09/2005)
10.	Thibodeau, Stephen N: 2 articles (09/2013 - 07/2004)

Related Diseases

1.	Microsatellite Instability 01/01/2022 - "Fifty-three percent of tumours showed high contribution of MMR-deficient mutational signatures, high level of global exome microsatellite instability, loss of MLH1/PMS2 protein expression and included sporadic tumours. " 08/21/2021 - "The loss of MLH1 and PMS2 protein expression was detected in immunohistochemistry, and high-frequency microsatellite instability (MSI-H) was also confirmed. " 03/01/2017 - "Subsequent studies highlighted that the uveal melanoma showed high microsatellite instability and loss of MLH1 and PMS2 protein expression, with no MLH1 promoter methylation or BRAF mutation. " 09/01/2017 - "Tumor cells showed loss of expression of MLH1/PMS2 protein and displayed high microsatellite-instability in all three components. " 04/01/2012 - "Immunohistochemistry (IHC) for MLH1, MSH2, MSH6, and PMS2 protein expression and microsatellite instability (MSI) are well-established tools to screen for Lynch syndrome (LS). "
2.	Uveal melanoma 03/01/2017 - "Subsequent studies highlighted that the uveal melanoma showed high microsatellite instability and loss of MLH1 and PMS2 protein expression, with no MLH1 promoter methylation or BRAF mutation. " 03/01/2017 - "To the best of our knowledge, this is the first report of uveal melanoma showing MLH1/PMS2 protein loss in the context of Lynch syndrome." 03/01/2017 - "Ovarian metastasis from uveal melanoma with MLH1/PMS2 protein loss in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?"
3.	Neoplasms (Cancer) 10/26/2022 - "A complete absence of immunoreactivity was observed for the PMS2 protein both in the tumors and normal tissues. " 03/01/2021 - "Large section IHC analysis of all 55 equivocal cases demonstrated substantial staining issues due to improper fixation in 54 cases and identified one tumor with clear-cut MLH1 and PMS2 protein loss. " 01/01/2021 - "Immunohistochemical tests revealed that all cancers lacked the MLH1/PMS2 protein. " 01/01/2020 - "Among patients with MSI status with complete data for dMMR mechanism analysis (n = 354), 255 (72%) had sporadic (BRAF mutation and/or MLH1 methylation) and 99 (28%) had familial tumors (BRAF WT and unmethylated MLH1 or loss of MSH2/MSH6/PMS2 protein expression). " 01/01/2020 - "Both tumors were microsatellites instability-high (MSI-H) and showed a loss of MLH1 and PMS2 protein expression, but only one had MLH1 promoter hypermethylation. "
4.	Hereditary Nonpolyposis Colorectal Neoplasms (Hereditary Nonpolyposis Colorectal Cancer) 05/08/2021 - "They are mostly found in cases with MLH1/PMS2 protein loss caused by MLH1 promoter hypermethylation and rarely related to Lynch syndrome. " 05/01/2020 - "We highlight an MLH1 variant in the colonic adenomas in an obligate Lynch syndrome carrier that resulted in PMS2 protein loss in the absence of mutations of the PMS2 gene." 03/01/2017 - "To the best of our knowledge, this is the first report of uveal melanoma showing MLH1/PMS2 protein loss in the context of Lynch syndrome." 12/01/2013 - "The MLH1 c.1664T>C (p.Leu555Pro) VUS co-segregated with three cases of classic Lynch syndrome-associated malignancies over two generations, with consistent loss of MLH1 and PMS2 protein expression on IHC, and evidence of the MSI-High mutator phenotype. " 04/01/2012 - "Immunohistochemistry (IHC) for MLH1, MSH2, MSH6, and PMS2 protein expression and microsatellite instability (MSI) are well-established tools to screen for Lynch syndrome (LS). "
5.	Carcinoma (Carcinomatosis) 01/01/2019 - "Another colon carcinoma with heterogenous PMS2 staining (but with retained MSH6) showed both MSH6 c.3261dupC and 3260_3261dupCC where PMS2 protein was lost and only c.3261dupC where PMS2 was retained. " 11/01/2012 - "Further testing of the 3 MLH1/PMS2 protein-deficient carcinomas identified 1 tumor showing high-frequency microsatellite instability and MLH1 promoter hypermethylation. " 01/01/2013 - "Our analyses showed that these tumors belonged to two distinct categories: (1) MLH1 and/or PMS2 protein-deficient carcinomas (n=5, including 1 with a pathogenic mutation in PMS2); and (2) MLH1, PMS2 and MSH2 normal but with chemotherapy or chemoradiation therapy before surgery (n=4). "

Related Drugs and Biologics

1.	Proteins (Proteins, Gene)
2.	Ligands
3.	Programmed Cell Death 1 Receptor
4.	Coloring Agents (Dyes)
5.	DNA Polymerase II
6.	pembrolizumab
7.	human PMS2 protein

Related Therapies and Procedures

1.	Therapeutics
2.	Drug Therapy (Chemotherapy)