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  1. 1. Risk and survival for colorectal cancer in northern Sweden : sociodemographic factors and surveillance programs

    Författare :Olle Sjöström; Beatrice S. Melin; Lars H Lindholm; Richard Palmqvist; Johannes Blom; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Colorectal cancer; Risk factors; Cancer epidemiology; Endoscopy general; Health economy; Cancer prevention; Hereditary colorectal; Surveillance colonoscopy; Cancer Epidemiology; cancerepidemiologi; Genetics; genetik; Surgery; kirurgi; Oncology; onkologi;

    Sammanfattning : BackgroundColorectal cancer (CRC) – i.e., cancer in the colon or rectum – is one of the most common cancers both globally and in Sweden. The risk for CRC is mainly related to age, heredity, and life-style risk factors. LÄS MER

  2. 2. Hereditary colorectal cancer : predisposition and prevention

    Författare :Annelie Liljegren; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Hereditary colorectal cancer; colonoscopy; adenoma; hyperplastic polyp;

    Sammanfattning : This thesis focuses on the clinical results from a ten-year long follow-up surveillance program, including regular colonoscopy, for subjects (n=304, 780 colonoscopies) with increased risk of colorectal cancer, and on psychological aspects of the program. The cohort included persons with hereditary nonpolyposis colorectal cancer (HNPCC) and persons assumed to be at increased risk of colorectal cancer because they had two (Two close relatives, TCR) or three or more relatives (Hereditary colorectal cancer, HCRC) afflicted with colorectal cancer. LÄS MER

  3. 3. Genomic Profiling, Mutations and Deranged Signaling in Esophageal Cancer and Hereditary Colorectal Cancer

    Författare :Anna Isinger Ekstrand; Institutionen för immunteknologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Esophageal cancer; hereditary cancer; HNPCC; copy number analysis; CGH; gene expression; Wnt; PIK3CA; CHEK2; gastric cancer; colorectal cancer;

    Sammanfattning : Esophageal cancer and colorectal cancer represents two major types of gastrointestinal tumors. Though refined surgery and introduction of novel chemotherapeutics have improved outcome, more than 2500 Swedes die from these diseases every year. Novel markers for early diagnosis, prognosis and treatment prediction are therefore needed. LÄS MER

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

    Författare :Anna Rohlin; Göteborgs universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  5. 5. 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