Sökning: "somatic mutations"

Visar resultat 1 - 5 av 128 avhandlingar innehållade orden somatic mutations.

  1. 1. Prognostic and Predictive Somatic Mutations in Colorectal Cancer

    Författare :Luís Nunes; Tobias Sjöblom; Bengt Glimelius; Snehangshu Kundu; Ivaylo Stoimenov; Laura DeLong Wood; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; colorectal cancer; somatic mutations; next-generation sequencing; whole-genome sequencing; transcriptomics; targeted therapy; prognosis; Medicinsk vetenskap; Medical Science;

    Sammanfattning : Colorectal cancer (CRC) is the third most incident and the second deadliest cancer worldwide. Even though CRC incidence is strongly correlated with age, it has been increasing in developing countries and younger individuals. LÄS MER

  3. 2. Somatic Mutations in Breast Cancer Genomes : Discovery and Validation of Breast Cancer Genes

    Författare :Xiang Jiao; Tobias Sjöblom; Anne-Lise Børresen-Dale; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; breast cancer; cancer gene; pathway; somatic mutation; structural alteration; sequencing; whole genome amplification; Genetics; Genetik; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Breast cancer is the most common cancer in women worldwide. However, the genetic alterations that lead to breast cancer are not fully understood. This thesis aims to identify novel genes of potential mechanistic, diagnostic or therapeutic interest in breast cancers by mutational analysis and whole-genome sequencing. LÄS MER

  4. 3. Pan-cancer study of transcriptional responses to oncogenic somatic mutations

    Författare :Arghavan Ashouri; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cancer; Driver mutations; Genomics; Transcriptomics; lncRNAs; NRF2; ALK;

    Sammanfattning : Cancer cells typically carry acquired somatic mutations in key cancer driver genes, which can be identified on the basis of recurrence in cancer cohorts. Such mutations may cause aberrant protein activity and altered gene expression in the nucleus, driving the cell toward a cancerous phenotype. LÄS MER

  5. 4. Characterization of somatic mutations in nonneoplastic cells

    Författare :Karin Broberg; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Clinical genetics; osteoarthritis; nonneoplastic; HMGIC; trisomy 7; FISH; Molecular genetics; cytogenetics; Klinisk genetik;

    Sammanfattning : Acquired genetic alterations, of which many are visible on the chromosome level, are believed to be necessary for tumorigenesis, and most tumors display characteristic patterns of recurrent structural and numerical aberrations. However, two of the most frequently occurring chromosome mutations in malignant and benign solid tumors, i.e. LÄS MER

  7. 5. Statistical assessment of somatic mutations and genomic variability using DNA sequence data

    Författare :Anna Rehammar; Göteborgs universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; DNA sequence data; exome sequencing; calling of somatic mutations; metagenomics; hierarchical Bayesian model; genomic variability; calling of somatic mutations;

    Sammanfattning : The development of new DNA sequencing techniques have made it possible to generate high-resolution genomic data at an unprecedented pace. However, the high dimensionality in combination with the substantial levels of technical errors and biological variability make the analysis challenging. LÄS MER