Search for dissertations about: "atm mutations"

Showing result 1 - 5 of 12 swedish dissertations containing the words atm mutations.

  2. 1. Genomic and transcriptomic sequencing in chronic lymphocytic leukemia

    Author : Diego Cortese; Richard Professor; Carlos López Otín; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic; lymphocytic; leukemia; CLL; genomics; transcriptomics; DNA; RNA; mutations; NGS; whole-exome; sequencing; prognostic; markers; TP53; SF3B1; RPS15; relapse; stereotyped; subsets.;

    Abstract : Identification of recurrent mutations through next-generation sequencing (NGS) has given us a deeper understanding of the molecular mechanisms involved in chronic lymphocytic leukemia (CLL) development and progression and provided novel means for risk assessment in this clinically heterogeneous disease. In paper I, we screened a population-based cohort of CLL patients (n=364) for TP53, NOTCH1, SF3B1, BIRC3 and MYD88 mutations using Sanger sequencing, and confirmed the negative prognostic impact of TP53, SF3B1 or NOTCH1 aberrations, though at lower frequencies compared to previous studies. READ MORE

  4. 2. Functional analysis of ATM with relevance for primary immunodeficiency and tumor formation

    Author : Aleksi Lähdesmäki; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Ataxia-telangiectasia is a rare autosomal recessive disorder characterized by cerebellar degeneration with ataxia, ocular and cutaneous telangiectasias, radiosensitivity, chromosomal instability, immunodeficiency, and cancer predisposition in both patients and heterozygous carriers of the gene. The gene responsible for the disorder, ATM, has been identified as a member of a family of phosphatidylinositol 3-kinaserelated genes and is one of the master controllers of the networks that are involved in cell cycle control and response to DNA damage. READ MORE

  5. 3. Repair of DNA double-stranded breaks in human cells

    Author : Susanne Nyström; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; DNA-PK; DNA double-stranded break; DSB; DNA single-stranded break; SSB; DNA damage; ionizing radiation; IR; DNA repair; calicheamicin gamma1; bleomycin; etoposide; topoisomerase II; radiotherapy; radiosensitizer; ATM;

    Abstract : DNA is continuously subjected to degradation. Therefore, our cells need to constantly repair its DNA to prevent mutations and in the long run cancer. In mammalian cells, when DNA is broken right off, a double-stranded break (DSB) is produced, and the ends are ligated by a process called non-homologous end-joining (NHEJ). READ MORE

  6. 4. Molecular studies in breast cancer susceptibility genes

    Author : Jindong Chen; Karolinska Institutet; Karolinska Institutet; []
    Keywords : familial breast cancer; breast cancer susceptibility gene; BRCA1; BRCA2; ATM; TP53; PTEN MMAC1; STK11 LKB1; gene mutation; mutation screening; LOH;

    Abstract : Breast cancer is the most common malignancy among women, with a cumulative risk of approximately 12% by the age of 85. Of the breast cancer cases, 5-10% are hereditary. READ MORE

  7. 5. Functional analysis of genetic variants in putative low penetrate breast cancer genes

    Author : Haixin Lei; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Breast cancer; low penetrance gene; CDH1; ILC; IDC; mutation; SNP; BA CHI; ATM; EST1; cryptic splice site; SR proteins; dinucleotide repeats; splicing silencer.;

    Abstract : Paper I & II: CDH1 germline mutations predispose individuals to diffuse gastric cancer, but its role in breast cancer is less clear. Somatic CDH1 mutations were reported to be frequent in lobular tumours (ILC), but they have not been found in ductal carcinomas (IDC). READ MORE