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.
Results
Showing 1 to 20 of 34 for “"cancer predisposition"”.
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Exploring cancer predisposition in individuals with multiple primary cancers germline- and tumor genomic profiling
Contains fulltext : 320401.pdf (Publisher’s version ) (Open Access)
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Somatic mutagenesis in humans with deficient DNA repair
… in normal cells causes the development of cancer and is implicated as a potential mechanism in the physiological process of ageing. In recent years our ability to interrogate the genome of human cancers and the normal tissues from which they arise has expanded greatly. These studies have …
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Elucidating the constitutional genetic basis of multiple primary tumours
Cancer predisposition syndromes are responsible for a significant minority of neoplasm occurrences and beget opportunities to mitigate the associated risks with clinical intervention. They are caused by constitutional genetic variation affecting tumour suppressor genes or proto-oncogenes and recent …
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Insights into determinants of cancer susceptibility, initiation, and progression:studies on medulloblastoma and Histiocytic Sarcoma in mouse models
… of both perigestational dietary influence on cancer predisposition as well as somatic genetic determinants of cancer development. Both projects used genetically engineered mouse models of cancer. The introductory chapter gives a brief historical introduction to cancer, background information …
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Analysis of cell cycle surveillance mechanisms in meiosis
… lead to spontaneous abortions, birth defects and cancer predisposition in the offspring. Two such surveillance mechanisms are analyzed in this thesis. The first is the meiotic recombination checkpoint, which delays meiotic cells in G2/prophase if recombination intermediates remain unrepaired. The …
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Molecular and genetic characterisation of contralateral breast cancer (CBC): opportunities for personalised surgery
… between primary and contralateral breast cancers (CBCs). Additionally, given the known risk factors for CBC development of young age at primary diagnosis and significant family history, the genetic predisposition of the CBC cohort was assessed.<br/><br/>Firstly, the population of women in …
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Identifying Pathogenic Variants In Hereditary Cancer Syndrome Genes Via Tumor Molecular Profiling
… profiling is often performed in order to direct cancer treatment options. However, because many of the genes analyzed on tumor molecular profiling overlap with genes known to be associated in the germline with hereditary cancer predisposition syndromes, tumor molecular profiling can unknowingly …
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Functional Analysis of Risk Single Nucleotide Polymorphism and Long Noncoding RNA in Prostate Cancer
Prostate cancer is the most commonly diagnosed non-cutaneous cancer in men worldwide. While most low-risk prostate cancer patients have a favourable clinical outcome, intermediate- and high-risk patients with aggressive forms of the disease often relapse despite the initially effective local and …
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Exploring the Potential use of TEAD Inhibition as Part of a Combination Therapy for NF2-Deficient Schwannoma and Meningioma.
NF2-related Schwannomatosis is a genetic cancer predisposition syndrome, resulting in the development of schwannoma, meningioma and ependymoma tumours. Although surgical resection and adjuvant radiotherapy can be used, new avenues of therapeutic development are essential to target inoperable and …
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Genetics, genomics and precision medicine: Innovations in childhood cancer care through the eyes of families and oncology professionals
… of precision medicine in childhood cancer care, including genomic testing for cancer predisposition syndromes, requires close examination of the experiences of key stakeholders. Taking a multi-perspective, mixed-methods approach, I conducted an in-depth investigation of the …
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Communication In Family Members With A Rare APC Mutation
… polyposis (FAP), an autosomal dominant cancer predisposition syndrome which has a lifetime risk of colon cancer of almost 100%. Identifying a genetic mutation can provide important health information to families. Family communication about genetic testing has been studied before in other …
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Assessing Parental Attitudes Towards Hepatoblatosma Screening
… polyposis (FAP) is an autosomal dominant cancer predisposition syndrome with nearly a 100% lifetime risk of developing colorectal cancer, if left untreated. Children with FAP have up to a 2% risk for the development of hepatoblastoma (HB). Guidelines for HB screening are not well …
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Exploring neurodegeneration in Ataxia-Telangiectasia
… by a progressive neurodegenerative disorder. Cancer predisposition, immunodeficiency and respiratory disease can result in premature death. The life expectancy of a patient with A-T is 30 years old. The phenotype is highly heterogeneous when partially functioning ATM protein and kinase are …
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Contrasting Effects of An Mdm2 Functional Polymorphism On Tumor Phenotypes
<p>Cancer predisposition by the cooperation of genetic variants, such as single nucleotide polymorphisms (SNPs), may be of much greater significance to public health than previously appreciated. Functional polymorphisms are genetic variants that alter gene function. Meta-analyses associate many …
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Family and tumour studies in breast and oesophageal cancer
This study focussed on two areas in the field of cancer susceptibility. The initial area was the genetic analysis of a recently mapped breast cancer susceptibility locus, BRCAl, in a number of breast and breast-ovarian cancer families. In the largest of the ICRF families studied (BOV3), linkage to …
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Role of inherited DNA repair deficiencies in cancer susceptibility and evolution
… is associated with the heritability of multiple cancer syndromes. I explored the role of inherited DNA repair deficiencies in cancer predisposition, progression and evolution. Using whole genome sequencing from family trios and a carefully curated variant calling pipeline, my results support the …
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Preclinical Modelling of Breast Cancer Drug Responses
Breast cancer is a highly heterogeneous disease, exhibiting both inter- and intra- tumour heterogeneity at genomic and phenotypic levels. This remains a key limitation in the treatment of the disease. While recent advances have dramatically improved our understanding and treatment strategies for …
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Loss of rad51 in zebrafish (Danio rerio): a novel Fanconi anaemia model
… progressive bone marrow failure and cancer predisposition. The cellular and molecular pathology of FA is poorly understood, resulting in a severe lack of effective treatment options. In this thesis, I describe the first viable vertebrate model of RAD51 loss. Phenotypic …
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Understanding and Improving Identification of Somatic Variants
… insight into mutations that occur in different cancers for development of better diagnostic, prognostic and therapeutic tools. This thesis outlines our work in understanding somatic variant calling, improving the identification of somatic variants from whole genome and whole exome platforms and …
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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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