Sökning: "CGH"
Visar resultat 11 - 15 av 76 avhandlingar innehållade ordet CGH.
11. Studies of Fusion Oncogenes and Genomic Imbalances in Human Tumors
Sammanfattning : Cancer is a genetic disease caused by mutations and chromosome rearrangements affecting oncogenes and tumor suppressor genes in particular. Molecular analyses of recurrent translocations in hematological disorders, as well as in certain solid tumor types, have shown that they frequently result in fusion oncogenes. LÄS MER
12. Decoding the Structural Layer of Transcriptional Regulation : Computational Analyses of Chromatin and Chromosomal Aberrations
Sammanfattning : Gene activity is regulated at two separate layers. Through structural and chemical properties of DNA – the primary layer of encoding – local signatures may enable, or disable, the binding of proteins or complexes of them with regulatory potential to the DNA. LÄS MER
13. Towards improved management of Lynch syndrome; ovarian cancer profiles, risk perception, knowledge and family perspectives
Sammanfattning : Lynch syndrome (hereditary nonpolyposis colorectal cancer) is one of the most common hereditary cancer syndromes and predisposes to several cancer types, including cancer of the colorectum, endometrium and ovaries. Cancer develops at an early age and one third of the individuals are affected by a metachronous cancer. LÄS MER
14. Development and Application of Microarray-Based Comparative Genomic Hybridization : Analysis of Neurofibromatosis Type-2, Schwannomatosis and Related Tumors
Sammanfattning : Neurofibromatosis type-2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral eighth cranial nerve schwannomas. However, the diagnostic criterion is complicated by the presence of a variable phenotype, with the severe form presenting with additional tumors such as peripheral schwannoma, meningioma and ependymoma. LÄS MER
15. Genetic and epigenetic characterization of pediatric high hyperdiploid acute lymphoblastic leukemia
Sammanfattning : The aim of this thesis was to analyze the genetic and epigenetic characteristics of pediatric high hyperdiploid acute lymphoblastic leukemia (HeH ALL), the most common type of childhood malignancy. The three original articles presented in this thesis have addressed three major questions regarding HeH ALL: what are the genetic characteristics of the most common structural abnormality – dup(1q)? Are aberrant methylation patterns involved in leukemogenesis? How do diagnostic and relapse samples relate to each other genetically? In article I we found that the proximal breakpoints of dup(1q)-positive Burkitt lymphomas (BL) and pediatric HeH ALLs cluster close to the centromere, suggesting this region to be breakprone, and that five genes on 1q were significantly overexpressed and thus potentially pathogenetically important. LÄS MER