Search for dissertations about: "atypical polyposis"

Found 2 swedish dissertations containing the words atypical polyposis.

  2. 1. Hereditary Colorectal Cancer; Identification, Characterization and Classification of Mutations

    Author : Anna Rohlin; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary Colorectal cancer; FAP; AFAP; mutations; mosaic mutation; exome sequencing; massively parallel sequencing; next generation sequencing; atypical polyposis; APC; POLE; GREM1; PPAP;

    Abstract : Hereditary factors are thought to play are role in 20-30% of all colorectal cancers Around 6% are found as high penetrant disease-causing mutations in genes correlated to hereditary polyposis or hereditary non-polyposis syndromes. The aim of this thesis was to identify new causative genes and variants and also mutation mechanisms in families presenting a polyposis, atypical polyposis or nonpolyposis CRC phenotype. READ MORE

  4. 2. Molecular aspects of parathyroid tumorigenesis : with focus on parafibromin and the Wnt pathway

    Author : Christofer Juhlin; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Primary hyperparathyroidism (PHPT) denotes the tumorous enlargement of one or several parathyroid glands and constitutes a common disorder, particularly pronounced among postmenopausal women. PHPT patients display hypercalcemia as a consequence of parathyroid hormone hypersecretion, and the symptomatology is habitually based on this metabolic aberrancy. READ MORE