Sökning: "BRCA2"

Visar resultat 1 - 5 av 43 avhandlingar innehållade ordet BRCA2.

  1. 1. Functional and Molecular Characterization of BRCA1 and BRCA2 Associated Breast Cancer

    Författare :Johan Vallon-Christersson; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; onkologi; cancer; Cytologi; cancerology; Cytology; BioArray Software Environment; BASE; Software; Open-source; Copy number; Gene expression; Microarray; BRCA2; BRCA1; Breast cancer; Hereditary cancer; oncology;

    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

  2. 2. Identification of novel BRCA2-binding proteins that are essential for meiotic homologous recombination

    Författare :Jingjing Zhang; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Nyckelord :NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; meiosis; DSB; cancer; BRCA2; MEILB2; BRME1; HR; RAD51; DMC1; DDR;

    Sammanfattning : Meiotic recombination is a molecular process in which the induction and repair of programmed DNA double-strand breaks (DSBs) creates genetic exchange between homologous chromosomes and thus increases genetic diversity and ensures chromosome segregation. Breast cancer susceptibility gene 2 (BRCA2) is a potent cancer suppressor and is required for DSB repair by homologous recombination (HR) in mitosis. LÄS MER

  3. 3. On the genetics of hereditary breast/ovarian cancer. BRCA1, BRCA2 and beyond

    Författare :Annika Bergman; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Nyckelord :BRCA1; BRCA2; breast cancer; hereditary cancer; founder mutation; mutation analysis; linkage analysis; genome scan; BRCAX;

    Sammanfattning : Breast cancer is the most common malignancy in women. Most of the breast cancers are sporadic with no apparent inheritance factor but about 5-10% is believed to be caused by an inherited predisposition. Aims: This thesis aimed at defining the BRCA1/2 mutation spectrum of the west Swedish population and specifically to characterize the BRCA1c. LÄS MER

  4. 4. Gene Expression Profiling of Hereditary Breast Cancer

    Författare :Ingrid Hedenfalk; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; non-BRCA1 BRCA2; BRCAx; MYB; cDNA microarray; gene expression profiling; tissue microarray; Cytology; oncology; cancerology; Cytologi; cancer; onkologi; BRCA2; Hereditary breast cancer; BRCA1;

    Sammanfattning : [abstract missing].... LÄS MER

  5. 5. On the genetics of hereditary breast/ovarian cancer : BRCA1, BRCA2 and beyond

    Författare :Annika Bergman; Sweden Göteborg Sahlgrenska Academy at Göteborg University Institute of Biomedicine Department of Medical and Clinical Genetics; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : .... LÄS MER