Sökning: "Hereditary cancer"

Visar resultat 6 - 10 av 76 avhandlingar innehållade orden Hereditary cancer.

  1. 6. 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; [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 : [abstract missing].... LÄS MER

  2. 7. Functional and Molecular Characterization of BRCA1 and BRCA2 Associated Breast Cancer

    Detta är en avhandling från KFS AB

    Författare :Johan Vallon-Christersson; [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

  3. 8. Mismatch Repair Deficient Cancer Diagnostic Aspects in Colorectal Cancer and the Role of Urological Cancer in Lynch Syndrome

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

    Författare :Patrick Joost; [2015]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mismatch repair; Lynch syndrome; immunohistochemistry; microsatellite instability; heterogeneity; cumulative incidence; colorectal cancer; urothelial cancer; prostate cancer; renal cell cancer;

    Sammanfattning : 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). LÄS MER

  4. 9. Genetic factors in childhood cancer. Associations between tumors in childhood and adulthood, and prevalence of germline TP53 mutations

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

    Författare :Susanne Magnusson; [2012]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Childhood cancer; hereditary factors; breast cancer; survival; hereditary breast and ovarian cancer; hereditary non-polyposis colorectal cancer; familial malignant melanoma; BRCA1; BRCA2; mismatch repair; CDKN2A; familial risk; multiple childhood tumors; Li-Fraumeni syndrome; TP53; adrenocortical carcinoma; choroid plexus tumors; rhabdomyosarcoma;

    Sammanfattning : 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. LÄS MER

  5. 10. Rectal Cancer - Tumor Biology and Prognostic Markers

    Detta är en avhandling från Eva Fernebro

    Författare :Eva Fernebro; [2003]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; prognostic markers; Cytology; oncology; cancerology; Cytologi; onkologi; cancer; immunohistochemistry IHC ; chromosomal instability CIN ; microsatellite instability MSI ; tissue microarray TMA ; tissue inhibitor of metalloproteinase 1 TIMP-1 ; Rectal cancer; soluble urokinase plasminogen activator receptor suPAR ;

    Sammanfattning : Colorectal cancer is one of our most common malignancies and the second leading cause of cancer death worldwide. About 1/3 of the tumors are located in the rectum. LÄS MER