Sökning: "PMS2"
Visar resultat 1 - 5 av 11 avhandlingar innehållade ordet PMS2.
1. Clinical aspects of Lynch syndrome
Sammanfattning : Colorectal cancer is the second most common cancer in women and the third most common cancer in men worldwide, with 1.8 million new cases and almost 861000 deaths in 2018. Approximately 5–10% of the annual CRC burden can be attributed to inherited high risk germline mutations. LÄS MER
2. Morphological Features and Mismatch Repair in Colorectal Tumors
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
3. Hitting the right targets : a study of molecular mediators of sensitivity to novel potential targeted therapies in cutaneous malignant melanoma
Sammanfattning : Cutaneous malignant melanoma (CMM) is the deadliest form of skin cancer with a 5-year overall survival (OS) rate of less than 10% among patients diagnosed with disseminated disease. During the past decade the emergence and use of novel targeted therapy and immunotherapy has significantly increased the 5-year OS rate (34%). LÄS MER
4. Mismatch Repair Deficient Cancer Diagnostic Aspects in Colorectal Cancer and the Role of Urological Cancer in Lynch Syndrome
Sammanfattning : Mismatch repair (MMR) deficiency is carcinogenic and can either have somatic/sporadic causes (i.e. epigenetic silencing or somatic inactivation) or hereditary causes (Lynch syndrome due to a germline mutation in one of the MMR genes ¬- MLH1, MSH2, MSH6, PMS2). LÄS MER
5. Next generation sequencing to find genetic risk factors in familial cancer
Sammanfattning : In 2015, Cancer is the second leading cause of death worldwide. Genetic predisposition in familial cancer cases is largely unexplained. At the same time, rapid development in sequencing technology results in an unprecedented increase in the amount of whole exome- and whole genome sequencing data. LÄS MER