Sökning: "Hereditary nonpolyposis colorectal cancer"

Visar resultat 6 - 10 av 13 avhandlingar innehållade orden Hereditary nonpolyposis colorectal cancer.

1. 6. Hereditary Ovarian Cancer mutation frequencies and genetic profiles

   Författare :Susanne Malander; Bröstcancer-genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; array comparative genomic hybridization; MLH1 MLH2 MSh6; HNPCC; Hereditary ovarian cancer; BRCA1 BRCA2; Medicine human and vertebrates ; Medicin människa och djur ;

   Sammanfattning : Ovarian cancer is a leading cause of gynecological cancer death and in Sweden nearly 700 cases are diagnosed annually. Ovarian cancer has one of the highest frequencies of hereditary cancer. LÄS MER

3. 7. Towards improved management of Lynch syndrome; ovarian cancer profiles, risk perception, knowledge and family perspectives

   Författare :Katarina Bartuma; Bröstcancer-genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ovarian cancer; Lynch syndrome; family relations; communication; interview; genetic knowledge; risk perception; questionnaire; gene expression profiling; array CGH; hereditary breast and ovarian cancer; mismatch repair;

   Sammanfattning : Lynch syndrome (hereditary nonpolyposis colorectal cancer) is one of the most common hereditary cancer syndromes and predisposes to several cancer types, including cancer of the colorectum, endometrium and ovaries. Cancer develops at an early age and one third of the individuals are affected by a metachronous cancer. LÄS MER

4. 8. Morphological Features and Mismatch Repair in Colorectal Tumors

   Författare :Britta Halvarsson; Tumörmikromiljö; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Patologi allmän ; patologisk anatomi; Lynch syndrome; Colorectal tumors; HNPCC; Mismatch repaire; pathological anatomy; General pathology; Genetik; cytogenetik; cytogenetics; Genetics; Medicin människa och djur ; Medicine human and vertebrates ; Immunohistochemistry;

   Sammanfattning : Corlorectal cancer affects 5% of individuals in the Western world and heredity is estimated to cause at least 10% of the tumors. Defective mismatch repair (MMR) is a tumorigenic mechanism through which about 15% of colorectal cancer develops and this feature characterizes tumors associated with Hereditary Nonpolyposis Colorectal Cancer (HNPCC) or Lynch syndrome. LÄS MER

5. 9. 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

7. 10. 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