Sökning: "copy number alterations CNA"

Hittade 5 avhandlingar innehållade orden copy number alterations CNA.

  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. 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

  4. 3. Novel methods to study genomic fragility and structural variation

    Författare :Reza Mirzazadeh; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : DNA double-strand breaks (DSBs) are major DNA lesions that when repaired unfaithfully can give rise to loss of genetic information, chromosomal rearrangements such as insertions/deletions (indels) and copy number alterations (CNAs), which in turn lead to genomic instability that is characteristic of almost all cancer types. In this context, it is thought that genomic instability has critical roles in cancer initiation, progression and intra-tumor heterogeneity (ITH). LÄS MER

  5. 4. Cancer proteogenomics : connecting genotype to molecular phenotype

    Författare :Ioannis Siavelis; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The central dogma of molecular biology describes the one-way road from DNA to RNA and finally to protein. Yet, how this flow of information encoded in DNA as genes (genotype) is regulated in order to produce the observable traits of an individual (phenotype) remains unanswered. Recent advances in high-throughput data, i.e. LÄS MER

  7. 5. Hereditary predisposition and prognostic prediction in cancer

    Författare :Karin Wallander; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Cancer is a genetic disease. The cancer cells evolve clonally through changes of their genome, gaining malignant characteristics. In hereditary cancer syndromes, a genetic aberration which puts the cells one step closer to being malignant is inherited and present throughout whole body. LÄS MER