Sökning: "copy number signatures"

Visar resultat 1 - 5 av 11 avhandlingar innehållade orden copy number signatures.

  1. 1. 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

  3. 2. Breast cancer : Multifocality, heterogeneity, and related genetic signatures

    Författare :Gyula Pekar; Dumanski Jan; Sapino Anna; Uppsala universitet; []
    Nyckelord :breast; breast cancer multifocality; molecular phenotypes; intertumoral heterogeneity; biobanking; gene copy number aberrations;

    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

  4. 3. 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

  5. 4. Mutations and molecular signatures in human melanoma

    Författare :Braslav Jovanovic; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Cutaneous melanoma is a disease which results from a complex mixture of various extrinsic and intrinsic factors, with some major players still unknown. Although primary tumors are highly curable with surgical excision, particularly those which are non-ulcerated and have a thickness of less than 1 mm, poor survival rates are observed in advanced disease. LÄS MER

  7. 5. Structural genomic variation in human disease

    Författare :Maria Pettersson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Structural variants (SVs) are physical changes in the structure of chromosomes and include both unbalanced copy number variants (CNVs) and balanced events (translocations, inversions and insertions). Many SVs constitute benign background variation and are found frequently in healthy individuals. LÄS MER