Sökning: "BRCA1"

Visar resultat 11 - 15 av 58 avhandlingar innehållade ordet BRCA1.

1. 11. Impact of Lifestyle, Hormones, and Genes on Breast Cancer

   Författare :Maria Hietala; Bröstcancer-genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Breast cancer; BRCA1; BRCA2; androgen receptor; CAG; GGC; polymorphism; htSNP; oral contraceptives; testosterone; breast-feeding; prolactin; premenopausal women; CYP2D; complementary and alternative medicin; antidepressants;

   Sammanfattning : Approximately 7000 women are diagnosed and 1500 women die from breast cancer in Sweden every year. The aim of this thesis was to study the interplay of polymorphisms, hormone levels, lifestyle, and the use of concomitant medication in relation to risk and prognosis in two cohorts: one composed of young healthy women from high-risk breast cancer families and the other of breast cancer patients from the general population. LÄS MER

3. 12. Metastatic Breast Cancer: Biomolecular Characterization and Targeted Therapy

   Författare :Siker Kimbung; Bröstcancer-genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Metastatic breast cancer; biomarker conversion; liver metastasis-selective genes; prognosis; BRCA1; PARP1;

   Sammanfattning : Metastasis is a complex process that remains a major challenge in the clinical management of cancer, because most cancer-related deaths are attributed to disseminated disease rather than the primary tumor. Despite the significant advances in the prediction of prognosis, and therapeutic management of primary breast cancers, coupled with the substantial improvement in our understanding of the molecular determinants of metastasis, breast cancer relapse and death rates remain unacceptably high. LÄS MER

4. 13. 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

5. 14. Interplay between Transcription and Homologous Recombination in the Presence of DNA Damage

   Författare :Ivaylo Stoimenov; Thomas Helleday; Niklas Schultz; Natalia Issaeva; Thierry Nouspikel; Stockholms universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; homologous recombination; transcription; DRB; UVC; 6-thioguanine; mammalian cells; BRCA1; BRCA2; PARP inhibitors; XP-V; Molecular biology; Molekylärbiologi; molekylärgenetik; Molecular Genetics;

   Sammanfattning : The biochemical processes of DNA repair, replication and recombination compete for the same substrate, the DNA molecule. This competition is natural, as each process requires the same template. In order to resolve possible conflicts between these processes, when they take place on a particular stretch of DNA, certain crosstalk is expected. LÄS MER

7. 15. 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