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 20 of 38 for “"Lynch Syndrome"”.
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Elucidation of the occurrence of extracolonic cancers in Lynch syndrome
Lynch Syndrome, also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) (OMIM #120435), is a familial disorder resulting from mutations within DNA MMR genes. Effective surveillance, diagnosis and treatment of the disorder is complicated due to the phenotypic and genetic heterogeneity of …
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Genomics of Lynch syndrome and Constitutional mismatch repair deficiency syndrome
… MSH6 and PMS2 cause the dominant adult cancer syndrome termed Lynch syndrome (or hereditary non-polyposis colorectal cancer). In our South African cohort, the MLH1 exon 13 c.1528C>T mutation is the most common Lynch syndrome-causing variant in the Mixed Ancestry population. Recently, a patient …
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Mutation Carriers' Perspectives on Lynch Syndrome; self-concept and lived experiences.
Lynch syndrome is a hereditary cancer syndrome that predisposes to several types of cancer, including colorectal cancer, endometrial cancer and ovarian cancer. Genetic testing for Lynch syndrome has been available since the mid-1990’s, which implies that an increasing number of individuals live …
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Identification of Mitochondrial Defects and Metabolic Consequences in Lynch Syndrome-Related Endometrial Cancer
<p>Lynch 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. …
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Mismatch Repair Deficient Neoantigen and Associated Circulating T-Cell Receptor Repertoires in Lynch Syndrome
<p>Lynch Syndrome (LS) is the most common inherited colorectal cancer (CRC) syndrome. It constitutes the perfect model to understand DNA mismatch repair deficient (MMRd) carcinogenesis, which underlies 15% of early-stage CRC. LS patients develop MMRd tumors with high loads of shared neoantigens …
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Genetic Counselor Utilization and Interpretation of Somatic Tumor Testing In Evaluation For Lynch Syndrome
<p>Lynch syndrome (LS) is a hereditary cancer predisposition syndrome characterized by increased risk for colorectal and uterine cancers. 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 …
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Surveillance colonoscopy for Lynch syndrome in the Northern Cape: Does direct contact improve compliance?
… colonoscopy to high–risk individuals known with Lynch Syndrome along the west coast and in the Northern Cape Province of South Africa. There are currently over 100 known mutation positive individuals. Surveillance colonoscopies are performed annually in August/September, and are preceded a by a …
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Mismatch Repair Deficient Tumors Lacking Known Sporadic Causes: Are They All Due to Lynch Syndrome?
… and <em>BRAF</em> mutations are suggestive of Lynch syndrome (LS). Positive germline genetic test results confirm LS. It is unclear if individuals with MMRD tumors but no identified germline mutation or sporadic cause (MMRD+/germline-) have LS.</p> <p>HYPOTHESIS: Since LS is hereditary, …
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Ethanol-induced formation of colorectal tumours and precursors in a mouse model of Lynch syndrome
Lynch Syndrome (LS) confers an inherited cancer predisposition, particularly for colorectal cancer, due to germline mutations in one of the DNA mismatch repair (MMR) genes, such as MSH2. MMR is a DNA damage repair pathway involved in the removal of base mismatches and insertion/deletion loops, …
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Elucidation of the pathways underlying the spectrum of cancers affecting different tissues in lynch syndrome
Lynch Syndrome (LS) is a hereditary disorder that predisposes individuals to an increased risk of several cancers, particularly colorectal cancer (CRC) and endometrial cancer (EC). LS arises from constitutional (“germline”) pathogenic variants affecting one of four DNA mismatch repair (MMR) genes. …
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Evaluating The Utility of Clinical Criteria For The Identification of Lynch Syndrome Among Endometrial Cancer Patients
<p>Background: Lynch Syndrome (LS) is a familial cancer syndrome with a high prevalence of colorectal and endometrial carcinomas among affected family members. Clinical criteria, developed from information obtained from familial colorectal cancer registries, have been generated to identify …
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Universal Lynch Syndrome Screening in Newly Diagnosed Colorectal Cancer: Impact of an Alberta-wide Screening Program
Lynch Syndrome (LS) is the most common cause of inherited colorectal cancer (CRC) and is thought to be present in 2-5% of new CRC diagnoses. LS is caused by a germline mutation in one of the DNA Mismatch Repair (MMR) genes and can be diagnosed through germline genetic testing. Universal tumor …
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Lessons from a pilot study of screening for upper tract urothelial cell carcinoma in Lynch Syndrome
Background: Lynch syndrome is a hereditary disorder, with a very high risk of the developing colorectal cancer (CRC) and a predilection to develop other cancers, including upper tract urothelial carcinoma (UTUC) that has an estimated lifetime risk of 0.2-25%, above that of the general population. …
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The role of deficient mismatch repair system in Lynch syndrome and the increased risk of colorectal cancer
… of all colorectal cancers are due to inherited syndromes, with 2-5% being the result of known conditions (Zhang et al., 2015). The most prevalent known hereditary condition predisposing individuals to develop colorectal cancer is what is known as Lynch syndrome. Initially, Lynch syndrome was …
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Mismatch Repair Deficient Cancer Diagnostic Aspects in Colorectal Cancer and the Role of Urological Cancer in Lynch Syndrome
… or somatic inactivation) or hereditary causes (Lynch syndrome due to a germline mutation in one of the MMR genes ¬- MLH1, MSH2, MSH6, PMS2). The identification of MMR defective colon cancer is clinically relevant for diagnostic, prognostic and potentially also for treatment-predictive purposes. …
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Effectiveness of Moviprep® as colonic preparation - cleansing right colon for Lynch Syndrome (LS) screening: a prospective study
… high risk for the development of colon cancer (Lynch syndrome). A clean colon is essential as it allows a thorough evaluation and surveillance for small polyps or mucosal lesions mostly encountered in the ascending colon. This study evaluated both the subject acceptance and the effectiveness of …
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Identifying Children with Constitutional Mismatch Repair Deficiency (CMMR-D) Syndrome in the Expanding Lynch Syndrome population in Cape Town
… Mismatch Repair Deficiency (CMMR-D) syndrome is a rare tumour predisposition and polyposis syndrome that presents in childhood. It is caused by mutations in mismatch repair (MMR) genes that result in a tumour spectrum including colorectal cancers, high-grade gliomas, non-Hodgkin …
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Randomised study of EndoRings™-assisted vs. standard colonoscopy for detection of polyps in at risk individuals with Lynch Syndrome
Introduction: Lynch syndrome (LS) is an autosomal dominant condition and is the most common cause of inherited colorectal cancer (CRC), contributing to approximately 3%-5% of newly diagnosed cases of colorectal malignancy. LS affected individuals bear 18% – 53% lifetime risk for development of CRC. …
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Colorectal cancer : a neuropsychological approach to non-adherence to screening guidelines of individuals with Lynch syndrome in the Western Cape
Lynch syndrome (LS), the most common form of inherited colorectal cancer (CRC), carries with it a lifetime risk of approximately 80% of developing CRC. This study identified unexpected findings with regard to the relationships between neuropsychological functioning, knowledge and non-adherence …
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A comparative cost analysis of two screening strategies for colorectal cancer in Lynch Syndrome in a tertiary hospital, South Africa
Individuals with Lynch Syndrome (LS) have a 25% to 75% lifetime risk of colorectal cancer and the cancer generally presents at an early age. Establishing the costs of strategies to prevent or delay the onset of cancer is, thus, desirable. This study compared the cost of two screening approaches - …
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