Sökning: "somatic mutation"

Visar resultat 1 - 5 av 87 avhandlingar innehållade orden somatic mutation.

  1. 1. 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

  3. 2. 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

  4. 3. Molecular Genetic Alterations In Endometrial And Ovarian Cancers

    Författare :Anjila Koul; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; KRAS; PTEN; TP53; Overexpression; Mutation; Microsatellite instability; Complex atypical hyperplasia; Endometrial cancer; Ovarian cancer; cancer; onkologi; Cytologi; cancerology; oncology; Cytology; CNS metastasis; Cytogenetic analysis; BRCA2; BRCA1; B-catenin; CDKN2A;

    Sammanfattning : Endometrial cancer is the most common gynecological cancer diagnosed in western countries. Complex atypical hyperplasia (CAH) reflects a state of hyperestrinism and its role as a precursor lesion of this cancer is established. LÄS MER

  5. 4. Detection and analysis of genetic alterations in normal skin and skin tumours

    Författare :Åsa Sivertsson; KTH; []
    Nyckelord :single cell; DNA sequencing; p53; mutation; UV; BCC; pyrosequencing; malignant melanoma; N-ras;

    Sammanfattning : The investigation of genetic alterations in cancer-relatedgenes is useful for research, prognostic and therapeuticpurposes. However, the genetic heterogeneity that often occursduring tumour progression can make correct analysischallenging. LÄS MER

  7. 5. Mitotic Kinesin-Like Protein 1 (MKLP1/KIF23) in hereditary congenital dyserythropoietic anemia type III and in cancer

    Författare :Ann-Louise Vikberg; Irina Golovleva; Monica Holmberg; Masanori Mishima; Pontus Aspenström; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Alternative splicing; Cell division; COPI; Congenital dyserythropoietic anemia; Cytokinesis; Gene expression; KIF23 protein human; Cancer; MKLP1 protein mouse; Mutation; medicinsk genetik; Medical Genetics;

    Sammanfattning : A hereditary form of autosomal dominant congenital dyserythropoietic anaemiatype III (CDA III) has been reported in four families from Sweden, Argentina, Cuba and USA. CDA III patients might experience signs of mild anaemia and some of them need occasional blood transfusions. LÄS MER