Search for dissertations about: "Hereditary cancer"
Showing result 6 - 10 of 94 swedish dissertations containing the words Hereditary cancer.
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6. Cancer risk and predisposition in families with childhood cancer
Abstract : BACKGROUND: Recent whole genome sequencing studies report that up to 6% of the childhood cancer population harbour a pathogenic variant. Identification of families with hereditary cancer may improve early detection of cancer as well as treatment outcome. READ MORE
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7. Gene Expression Profiling of Hereditary Breast Cancer
Abstract : [abstract missing].... READ MORE
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8. Functional and Molecular Characterization of BRCA1 and BRCA2 Associated Breast Cancer
Abstract : This doctoral dissertation is based on five appended papers primarily concerned with three main topics, namely: the functional characterization of specific and clinically relevant perturbations found in BRCA1 ? one of the major breast cancer susceptibility genes; the use of microarray technologies for molecular characterization of hereditary breast tumor samples from a genomic perspective; and finally, the development of software to address some of the logistical problems of data analysis and management that arise when utilizing microarrays. Results obtained from the work presented herein demonstrate the following: that transcription az says can aid in the characterization of C-terminal missense mutations but that it may not be possible to unambiguously characterize variants with a yeast-based assay alone; that a naturally occurring C-terminal germline mutation in BRCA1 encodes a protein with apparent temperature-dependant functional properties; that open-source software can provide comprehensive solutions to meet data management needs of microarray experimenters; that BRCA1 and BRCA2 associated breast tumors exhibit markedly different copy number aberrations when compared to each other as well as to sporadic tumors; and that gene expression profiling in BRCA1 and BRCA2 associated breast tumors reveals specific gene expression patterns. READ MORE
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9. Mismatch Repair Deficient Cancer Diagnostic Aspects in Colorectal Cancer and the Role of Urological Cancer in Lynch Syndrome
Abstract : Mismatch repair (MMR) deficiency is carcinogenic and can either have somatic/sporadic causes (i.e. epigenetic silencing or somatic inactivation) or hereditary causes (Lynch syndrome due to a germline mutation in one of the MMR genes ¬- MLH1, MSH2, MSH6, PMS2). READ MORE
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10. Genetic factors in childhood cancer. Associations between tumors in childhood and adulthood, and prevalence of germline TP53 mutations
Abstract : The etiology of childhood cancer is largely unknown. Approximately 1-10% of all childhood tumors are associated with known cancer predisposition syndromes. However, the contribution may be underestimated due to the failure to detect patients with genetic susceptibility for cancer when relying on known family pattern and anomalies. READ MORE
