Sökning: "gene copy number aberrations"
Visar resultat 1 - 5 av 37 avhandlingar innehållade orden gene copy number aberrations.
1. Genomic profiling of breast cancer by microarray-based technology and bioinformatics
Sammanfattning : Cancer is a genetic disease that arises when a cell acquires unlimited growth potential through a series of mutational events, which target genes essential for normal cell control and maintenance. Breast cancer is one of the most frequent malignancies in women worldwide, and it is characterized by heterogeneous tumor biology, histological subtypes, variable prognosis and variable responsiveness to treatment. LÄS MER
2. Functional and Molecular Characterization of BRCA1 and BRCA2 Associated Breast Cancer
Sammanfattning : 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. LÄS MER
3. Analysis of chromosomal rearrangements and gene copy number changes in breast cancer cells
Sammanfattning : Genome changes in terms of numerical chromosomal aberrations and structural rearrangements, including deletions, amplifications and translocations, gradually accumulate in the genome during tumor development. These genomic changes are likely to play an important role in the process of tumor progression. LÄS MER
4. Breast cancer : Multifocality, heterogeneity, and related genetic signatures
Sammanfattning : Breast carcinoma often exhibits a complex subgross morphology and may occupy a large volume of the breast tissue and show unifocal, multifocal or diffuse growth patterns. Expression of estrogen- and progesterone receptors, HER2 overexpression, tumor grade, and proliferative activity allows us to classify breast carcinoma into molecular subgroups (Luminal A, Luminal B, HER2-type, triple negative, and basal-like). LÄS MER
5. Molecular Cytogenetics in Sporadic Breast Cancer
Sammanfattning : In recent time breast cancer has become the most common form of female cancer in the western world. It has been estimated that the lifetime risk of women falling ill from the disease is 10%. The number of patients diagnosed each year has been increasing steadily since the 1970s. LÄS MER
