Sökning: "BRCA2"

Visar resultat 1 - 5 av 40 avhandlingar innehållade ordet BRCA2.

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

    Detta är en avhandling från KFS AB

    Författare :Johan Vallon-Christersson; Lund University.; Lunds universitet.; [2005]
    Nyckelord :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. On the genetics of hereditary breast/ovarian cancer. BRCA1, BRCA2 and beyond

    Detta är en avhandling från KFS AB

    Författare :Annika Bergman; Göteborgs universitet.; Gothenburg University.; [2006]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; 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

  3. 3. Gene Expression Profiling of Hereditary Breast Cancer

    Detta är en avhandling från Ingrid Hedenfalk, Department of Oncology, Lund University, SE-221 85 Lund, Sweden

    Författare :Ingrid Hedenfalk; Lund University.; Lunds universitet.; [2002]
    Nyckelord :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 : .... LÄS MER

  4. 4. Clinical Aspects of Hereditary Breast Cancer

    Detta är en avhandling från Niklas Loman, Dept of Oncology, Lund University Hospital SE-211 85 Lund, Sweden

    Författare :Niklas Loman; Lund University.; Lunds universitet.; [2003]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cancer; Cytologi; onkologi; cancerology; oncology; Cytology; Age of onset; Survival analysis; Incidence; Male breast cancer; Steroid receptors; BRCA2; BRCA1; Breast cancer; hereditary;

    Sammanfattning : A positive family history of breast cancer (BC) is one of the strongest predictors of the disease. Two major BC susceptibility genes, BRCA1 and BRCA2 were identified about a decade ago. In this thesis, studies of different biological. clinical and epidemiological aspects of hereditary BC are presented. LÄS MER

  5. 5. Genetic polymorphisms, IGF-1, and oral contraceptive use in women from high-risk breast cancer families

    Detta är en avhandling från Department of Oncology, Clinical Sciences, Lund University

    Författare :Maria Henningson; Lund University.; Lunds universitet.; Lund University.; Lunds universitet.; [2010]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; familial breast cancer; premenopausal women; htSNP; GSTP1; polymorphism; BRCA1; BRCA2; IGF-1; oral contraceptives; CYP17; GSTT1; GSTM1;

    Sammanfattning : Breast cancer is the most common cancer among Swedish women, affecting more than 7000 women each year. About 5-10% of all breast cancers are hereditary, with a monogenic inheritance pattern, but only 2-4% are explained by germline mutations in BRCA1 or BRCA2. BRCA1/BRCA2 mutation carriers have a 60-80% risk of developing breast cancer. LÄS MER