Sökning: "hereditary neoplasm"

Hittade 2 avhandlingar innehållade orden hereditary neoplasm.

1. 1. Hereditary breast and ovarian cancer in western Sweden with a special focus on BRCA1 3171ins5 mutation

   Författare :Zakaria Einbeigi; Göteborgs universitet; []
   Nyckelord :BRCA1 gene; breast neoplasm; ovarian neoplasm; hereditary; haplotype;

   Sammanfattning : Aims: To describe the phenotype and geographic distribution of the western Swedish founder mutation BRCA1 3171ins5, evaluate the reliability of mutation analysis of this mutation on archival material, analyse the haplotype for founder effects in families with BRCA1 3171ins5 mutation, estimate the age of this mutation and evaluate whether the occurrence of both breast and ovarian cancers in the same women may be a marker of a BRCA gene mutation. Materials and methods: The first study was based on 16 families with BRCA1 3171ins5 mutation and the second study was based on 18 families with the same mutation. LÄS MER

3. 2. Hereditary Breast Cancer in South Sweden. Early findings from studies on the role of BRCA1

   Författare :Oskar Thor Johannsson; Bröstcancer-genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; survival analysis; CGH; mRNA in situ hybridization; germline mutations; LOH; Breast neoplasm; BRCA1; Cytology; oncology; cancerology; Cytologi; onkologi; cancer;

   Sammanfattning : The thesis presents the results from investigations into the role of BRCA1 in hereditary cancer in South Sweden. Loss of heterozygosity (LOH) studies found loss of the wildtype allele of BRCA1 to be common in BRCA1 associated breast cancer, but due to the high degree of LOH on chr. LÄS MER