Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 8 of 8 for “"mismatch repair genes"”.
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Mutational analysis of the DNA mismatch repair genes, hMLH1 and hMSH2, in South African colorectal cancer patients
… provide an ideal opportunity to study the pathogenesis of colorectal cancer. In South Africa, the incidence of CRC in black patients is approximately ten fold lower than that of white South African patients. The majority of black South African CRC patients presents with tumours without …
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Pharmacogenomic profiling and clarification of the role of the mismatch repair genes in response to the chemotherapeutic agent 5-Fluorouracil in a South African colorectal cancer cohort
To date, surgery is the mainstay treatment for HNPCC. Adjuvant chemotherapy and radiotherapy are often used to reduce systemic and locoregional recurrence, respectively, after curative surgical resection. The main chemotherapeutic agent is 5-Fluoroucacil (5-FU). Studies have attempted to elucidate …
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The role of deficient mismatch repair system in Lynch syndrome and the increased risk of colorectal cancer
… is the result of germline mutations in DNA mismatch repair genes (Yurgelun & Hampel, 2018). Analysis of individuals and families with Lynch syndrome found that patients had defects specifically in chromosomes 2, 3 and 7 (Zhang et al., 2015). The significance of these chromosomes was later …
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The role of mismatch repair in mediating cellular sensitivity to cisplatin : the Escherichia coli methyl-directed repair paradigm
… utility. A paradox in the field is how loss of mismatch DNA repair leads to clinical resistance to this widely used drug. The phenomenon of cisplatin tolerance in mismatch repair deficient cells was initially discovered in E. coli, where methylation deficient dam mutants show high sensitivity to …
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Mechanisms and Consequences of Chromosomal Instability in Malignant tumours
… cancer cell lines with mutations in the mismatch repair genes. In Wilms tumour, chromosomal instability was found to be associated with an aggressive tumour phenotype and poor survival. Telomere shortening was more pronounced in the immature tumour components, which could explain the fact …
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Identification of Mitochondrial Defects and Metabolic Consequences in Lynch Syndrome-Related Endometrial Cancer
… syndrome (LS), defined by mutations in DNA mismatch repair genes including <em>MSH2</em>, carries a 60% lifetime risk of developing endometrial cancer (EC). Mismatch repair deficiency (MMRd) causes hypermutability, which is assumed to be the main driver of LS-related EC development. However, …
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The histopathology and immunohistochemical expression of cell cycle regulators and mismatch repair gene proteins in colorectal carcinoma : a comparative study
… and mutation negative, (2) < 50 years and DNA mismatch repair gene mutation positive and (3) more than 50 years (sporadic). To investigate the immunoexpression of the cell cycle regulators (p21, p27, p53, c-myc, cyclin D1 and cyclin E) and MMP-7 in each cohort. To compare the immunoexpression …
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Genetic Counselor Utilization and Interpretation of Somatic Tumor Testing In Evaluation For Lynch Syndrome
… Individuals with pathogenic variants in the mismatch repair (MMR) genes (<em>MLH1</em>, <em>MSH2/EPCAM</em>, <em>MSH6</em>, <em>PMS2</em>) are diagnosed with LS and subsequently recommended to proceed with high risk screening protocols to increase prevention and early detection of LS-related …