Sökning: "copy number alterations"

Visar resultat 1 - 5 av 67 avhandlingar innehållade orden copy number alterations.

  1. 1. Copy Number Analysis of Cancer

    Författare :Markus Mayrhofer; Anders Isaksson; Simon Tavaré; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chromosomes; oncology; bioinformatics; Bioinformatik; Bioinformatics; Oncology; Onkologi; Clinical Genetics; Klinisk genetik;

    Sammanfattning : By accurately describing cancer genomes, we may link genomic mutations to phenotypic effects and eventually treat cancer patients based on the molecular cause of their disease, rather than generalizing treatment based on cell morphology or tissue of origin.Alteration of DNA copy number is a driving mutational process in the formation and progression of cancer. LÄS MER

  3. 2. Ovarian Carcinoma - Early Detection and Prognostication

    Författare :Laura Martin de la Fuente; Bröst- och ovarialcancer; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; High-grade serous ovarian carcinoma; early detection markers; pre-diagnostic cervical sample; copy number alterations CNA ; copy number signatures; Claudin-4; immune cell infiltration; PD-1 PD-L1 pathway;

    Sammanfattning : .... LÄS MER

  4. 3. Studies of gene fusions and copy number alterations in salivary and adnexal neoplasms

    Författare :Marta Persson; Göteborgs universitet; []
    Nyckelord :cancer genetics; fusion oncogenes; chromosome translocation; MYB; NFIB; CRTC1; MAML2; salivary gland; breast; adenoid cystic carcinoma; mucoepidermoid carcinoma; hidradenoma;

    Sammanfattning : Cancer is a genetic disease caused by the accumulation of genetic changes such as mutations and chromosomal rearrangements. An increasing number of genetic studies of both hematological and solid neoplasms have shown that recurrent chromosome translocations often result in fusion oncogenes. LÄS MER

  5. 4. Array based genetic profiling of chronic lymphocytic leukemia

    Författare :Rebeqa Gunnarsson; Stamcellscentrum (SCC); []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; prognostic markers; copy-number neutral loss of heterozygosity; copy-number aberrations; chronic lymphocytic leukemia; genomic microarrays; clonal evolution; stereotyped B-cell receptors;

    Sammanfattning : Although no common genetic defect has been described in chronic lymphocytic leukemia (CLL), recurrent genomic aberrations (i.e. deletions of chromosome 11q, 13q, 17p and trisomy 12) are important for prognostication. Deletion of 13q as single aberration is associated with the best prognosis, whereas del(11q) and del(17p) predict a poor outcome. LÄS MER

  7. 5. Genetic Characterization and Identification of Novel Treatment Targets in Anaplastic Thyroid Carcinoma

    Författare :Naveen Ravi; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Anaplastic thyroid cancer; copy number alterations; somatic mutations; mutational signatures; DNA methylation analysis; Gene expression analysis;

    Sammanfattning : Anaplastic thyroid cancer (ATC) is a rare and highly aggressive thyroid malignancy, usually resistant to conventional therapeutic strategies. The prognosis of ATC is extremely poor with a median survival rate of 6 months. Current treatment therapy includes surgical resection in combination with external radiotherapy and chemotherapy. LÄS MER