Sökning: "hMLH1 gene"

Visar resultat 1 - 5 av 10 avhandlingar innehållade orden hMLH1 gene.

  1. 1. HPRT mutational spectra and microsatellite DNA instability in HNPCC and lung cancer patients

    Författare :Peter Hackman; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Somatic gene mutation; mutational spectra; HPRT gene; lung cancer; smoking; hMLH1 gene; HNPCC; microsatellite instability; mismatch repair; T-cells;

    Sammanfattning : The, general aims of this work have been to explore the use of microsatellite DNA length variation and mutational spectra of the hypoxanthine guanine phosphoribosyltransferase (HPRT) locus in T-cells as tools for a better understanding of human somatic mutagenesis in vivo. In particular (a) how inherited mismatch repair (MMR) deficiency may affect the stability of microsatellite DNA and the mutational spectrum at the HPRT locus, and (b) how the mutational spectrum at the HPRT locus is influenced by smoking, and by predisposition to lung cancer among never smokers. LÄS MER

  3. 2. Molecular genetic studies on genes involved in hereditary nonpolyposis colorectal cancer (HNPCC)

    Författare :Tao Liu; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :colorectal cancer; endometrial cancer; HNPCC; mismatch repair genes; bhMSH2; hMLH1; hPMS1; hPMS2; hMSH6; mutation screening; MSI; LOH.;

    Sammanfattning : Colorectal cancer (CRC) is a major public health problem in Western countries, and it is the third leading cause of death from cancer in both males and females. Inherited predisposition can be divided into two subgroups based on the absence or the presence of multiple benign colorectal polyps. LÄS MER

  4. 3. Molecular genetics of hereditary non-polyposis colorectal cancer

    Författare :Pia Tannergård; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Colorectal cancer (CRC) is one of the most prevalent malignancies in the Western World and one of the most predominant causes of death by cancer. There is a subgroup of syndromes with a high incidence of CRC which is transmitted in an autosomal dominant fashion. LÄS MER

  5. 4. Molecular genetic studies of colorectal cancer

    Författare :Xiaolei Zhou; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Colorectal cancer CRC ; high-penetrance alleles; low-penetrance alleles; autism spectrum disorder ASD ; MSI; microarray; metastasis; hMLH3; APC; MYH; TJP3.;

    Sammanfattning : Colorectal cancer (CRC) is one of the leading causes of morbidity and mortality due to cancer in the Western countries. Epidemiological studies have shown that at least 20-30% of CRCs have a potentially identifiable genetic cause. LÄS MER

  7. 5. Molecular alterations in colorectal cancer

    Författare :Agneta Jansson; Mef Nilbert; Linköpings universitet; []
    Nyckelord :MEDICINE; MEDICIN;

    Sammanfattning : Colorectal cancer is one of the most common causes to death due to cancer in the world. It is important to understand the molecular mechanisms behind tumour development for both prognostic and therapeutic applications. LÄS MER