C-terminal fluorescent labeling impairs functionality of DNA mismatch repair proteins [PDF]
, 2012 The human DNA mismatch repair (MMR) process is crucial to maintain the integrity of the genome and requires many different proteins which interact perfectly and coordinated.
Hinrichsen, Inga Malena +17 more
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Genotypes of Papillary Thyroid Carcinoma With High Lateral Neck Metastasis in Chinese Population
Frontiers in Oncology, 2022 Papillary Thyroid Carcinoma (PTC) is one of the most commonly diagnosed cancer types in China, characterized by its early age at diagnosis and high 25-year survival rate.
Wei Guo +5 more
doaj +1 more source
Inactivation of DNA Mismatch Repair by Variants of Uncertain Significance in the PMS2 Gene [PDF]
Human Mutation, 2013 Lynch syndrome (LS) is a common cancer predisposition caused by an inactivating mutation in one of four DNA mismatch repair (MMR) genes. Frequently a variant of uncertain significance (VUS), rather than an obviously pathogenic mutation, is identified in one of these genes.
Drost, M., Koppejan, H., Wind, N. de
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Journal of Animal Reproduction and Biotechnology, 2021 Increasing the efficiency of HR (homologous recombination) is important for a successful knock-in. Rad51 is mainly involved in homologous recombination and is associated with strand invasion. The HR-related mismatch repair system maintains HR fidelity by
Hyeong-Ju You +3 more
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The coding microsatellite mutation profile of PMS2-deficient colorectal cancer [PDF]
, 2021 Lynch syndrome (LS) is caused by a pathogenic heterozygous germline variant in one of the DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6 or PMS2. LS-associated colorectal carcinomas (CRCs) are characterized by MMR deficiency and by accumulation of ...
Ahadova, Aysel +27 more
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Immunohistochemical phenotype of colorectal carcinoma in patients with KRAS mutation and mismatch repair status [PDF]
Folia Medica, 2023 Introduction: Aberrant expression of CK7/CK20/CDX2 is reported in percentage of colorectal carcinomas (CRC). Aim: The objective of this study was to investigate specific morphological and immunohistochemical characteristics of colorectal
Desislava Tashkova +6 more
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Mismatch Repair Gene PMS2 [PDF]
Cancer Research, 2004 Abstract The MutLα heterodimer formed by mismatch repair (MMR) proteins MLH1 and PMS2 is a major component of the MMR complex, yet mutations in the PMS2 gene are rare in the etiology of hereditary nonpolyposis colorectal cancer. Evidence from five published cases suggested that contrary to the Knudson principle, PMS2 mutations cause ...
Hidewaki Nakagawa +7 more
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The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material [PDF]
, 2020 Germline variants in the DNA mismatch repair (MMR) gene PMS2 cause 1-14% of all Lynch Syndrome cancers. Correct variant analysis of PMS2 is complex due to the presence of multiple pseudogenes and the occurrence of gene conversion. The analysis complexity
Hans Morreau +19 more
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Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2) [PDF]
European Journal of Human Genetics, 2010 (1) Clinical selection1: Lynch-related cancer (colon, rectum, endometrium, urinary tract, small bowel, biliary tract, ovary, stomach). Sporadic before 50 years of age, first-degree relative or prior Lynch-related cancer. (2) Study of MMR function in tumour cells2: microsatellite DNA analysis—genotyping of the consensus panel of five mononucleotidic ...
Nils, Rahner +5 more
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PMS2 expression decrease causes severe problems in mismatch repair [PDF]
, 2019 PMS2 is one of the four susceptibility genes in Lynch syndrome (LS), the most common cancer syndrome in the world. Inherited mutations in DNA mismatch repair (MMR) genes, MLH1, MSH2, and MSH6, account for approximately 90% of LS, while a relatively small
Nyström, Minna +2 more
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