Search for dissertations about: "low-penetrance alleles"

Found 4 swedish dissertations containing the words low-penetrance alleles.

  2. 1. Molecular genetic studies of colorectal cancer

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

    Abstract : 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. READ MORE

  4. 2. 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

  5. 3. Investigation of genetic factors involved in colorectal cancer predisposition

    Author : Tatjana Djureinovic; Karolinska Institutet; Karolinska Institutet; []
    Keywords : colorectal cancer CRC ; hereditary colorectal cancer HCRC ; two-close relatives TCR ; linkage analysis; case-control;

    Abstract : Colorectal cancer (CRC) is one of the leading causes of cancer-related death in the western world. Several hereditary CRC predisposing syndromes have been described and their genetic component has been elucidated. Taken together, these syndromes account for at most 5% of all CRC cases. READ MORE

  6. 4. Search for susceptibility loci and candidate genes for breast cancer

    Author : Qianren Jin; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Breast cancer is the most frequent cancer among women in the western world. Family history is a wellestablished and important risk factor for breast cancer. Both a population-based twin study and a study based on a large family cancer database have suggested that hereditary factors account for about a quarter of breast cancers. READ MORE