Sökning: "hereditary"

Visar resultat 16 - 20 av 286 avhandlingar innehållade ordet hereditary.

  1. 16. Psychological and Behavioral Aspects of Receiving Genetic Counseling for Hereditary Cancer

    Författare :Afsaneh Hayat Roshanai; Karin Nordin; Richard Rosenquist; Yvonne Brandberg; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary cancer; genetic counseling; psychological distress; adherence; genetic knowledge; risk perception; sharing genetic information; at-risk relatives’ experiences; informational needs; Clinical genetics; Klinisk genetik; Public health science; Folkhälsovetenskap; Psychology; Psykologi; Genetics; Genetik;

    Sammanfattning : The overall aims of this thesis were to investigate psychological and behavioral effects of receiving cancer genetic counseling for breast, ovarian and colorectal cancer and/or with a family history of these cancer types and to determine whether counselees’ informational needs were met. Study I was performed 3-7 years post-counseling. LÄS MER

  2. 17. On the genetics of hereditary breast/ovarian cancer. BRCA1, BRCA2 and beyond

    Författare :Annika Bergman; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; BRCA1; BRCA2; breast cancer; hereditary cancer; founder mutation; mutation analysis; linkage analysis; genome scan; BRCAX;

    Sammanfattning : Breast cancer is the most common malignancy in women. Most of the breast cancers are sporadic with no apparent inheritance factor but about 5-10% is believed to be caused by an inherited predisposition. Aims: This thesis aimed at defining the BRCA1/2 mutation spectrum of the west Swedish population and specifically to characterize the BRCA1c. LÄS MER

  3. 18. Genetic factors in childhood cancer. Associations between tumors in childhood and adulthood, and prevalence of germline TP53 mutations

    Författare :Susanne Magnusson; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Childhood cancer; hereditary factors; breast cancer; survival; hereditary breast and ovarian cancer; hereditary non-polyposis colorectal cancer; familial malignant melanoma; BRCA1; BRCA2; mismatch repair; CDKN2A; familial risk; multiple childhood tumors; Li-Fraumeni syndrome; TP53; adrenocortical carcinoma; choroid plexus tumors; rhabdomyosarcoma;

    Sammanfattning : The etiology of childhood cancer is largely unknown. Approximately 1-10% of all childhood tumors are associated with known cancer predisposition syndromes. However, the contribution may be underestimated due to the failure to detect patients with genetic susceptibility for cancer when relying on known family pattern and anomalies. LÄS MER

  4. 19. 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. 20. 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