Search for dissertations about: "Multiple Hereditary"

Showing result 1 - 5 of 48 swedish dissertations containing the words Multiple Hereditary.

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

    Author : Susanne Magnusson; Bröstcancer-genetik; []
    Keywords : 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;

    Abstract : 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. READ MORE

  2. 2. Tumors associated with Hereditary Nonpolyposis Colorectal Cancer: Defective Mismatch Repair and Familial Risk of Cancer

    Author : Kajsa Ericson Lindquist; Bröstcancer-genetik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; oncology; cancerology; Cytologi; onkologi; cancer; Multiple Tumors; Hereditary Nonpolyposis Colorectal Cancer; Cytology; Cohort study; Population based; Familial Risk of Cancer; Immunohistochemistry; MSH2; MSH6; MLH1; Microsatellite Instability; Soft Tissue Sarcomas; Cancer of the Upper Urinary Tract; Cancer of the Small Intestine; Colorectal Cancer;

    Abstract : Inactivation of the DNA mismatch repair (MMR) system is a tumorigenic mechanism involved in 15-20% of tumor types such as colorectal and endometrial cancer and is specifically associated with the Hereditary Nonpolyposis Colorectal Cancer (HNPCC) syndrome. These MMR defective tumors are characterized by microsatellite instability (MSI), a phenomenon that reflects alterations in length of repeated sequences, and 90% of MSI tumors show loss of immunohistochemical expression for the MMR protein affected. READ MORE

  3. 3. Hereditary factors in endometrial cancer

    Author : Gerasimos Tzortzatos; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Endometrial carcinoma (EC) is the most common gynecological malignancy in Sweden and accounts for about 6 % of all female malignancies. The risk of EC increases with age and the majority of cases are diagnosed between age 50 and 60. Ninety percent of cases occur in women older than age 50. READ MORE

  4. 4. Hereditary predisposition and prognostic prediction in cancer

    Author : Karin Wallander; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Cancer is a genetic disease. The cancer cells evolve clonally through changes of their genome, gaining malignant characteristics. In hereditary cancer syndromes, a genetic aberration which puts the cells one step closer to being malignant is inherited and present throughout whole body. READ MORE

  5. 5. Hereditary Nonpolyposis Colorectal Cancer - Molecular Genetics and Biology of Associated Tumors

    Author : Maria Planck; Bröstcancer-genetik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; endometrial cancer; rectal cancer; colon cancer; mismatch repair protein expression; coding repeats; microsatellite instability; MSH6; MSH2; Hereditary nonpolyposis colorectal cancer; MLH1; small bowel cancer; Cytology; oncology; cancerology; Cytologi; onkologi; cancer;

    Abstract : This thesis focuses on one of the most common types of hereditary cancer, hereditary nonpolyposis colorectal cancer (HNPCC). This syndrome is characterized by an autosomal dominant inheritance, an increased risk for several types of cancer (especially cancer of the colorectum, small bowel, endometrium, ovary and urinary tract), early age at diagnosis, and frequent development of multiple primary malignancies. READ MORE