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  1. 1. Genetic and epidemiological studies of hereditary colorectal cancer

    Författare :Kristina Cederquist; Henrik Grönberg; Irina Golovleva; Gösta Holmgren; Mef Nilbert; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Lynch syndrome; HNPCC; colorectal cancer; endometrial cancer; cancer risk; MSI; MLH1; MSH2; MSH6; genome-wide scan; Genetik; Clinical genetics; Klinisk genetik; medicinsk genetik; Medical Genetics;

    Sammanfattning : Lynch syndrome (Hereditary Nonpolyposis Colorectal Cancer, HNPCC) is the most common hereditary syndrome predisposing to colorectal cancer, accounting for 1-3% of all colorectal cancer. This multi-organ cancer predisposition syndrome is caused by mutations in the mismatch repair (MMR) genes, especially MLH1 and MSH2, and to lesser extents MSH6 and PMS2, which lead to widespread genetic instability and thus microsatellite instability (MSI). LÄS MER