Sökning: "BRCA1 gene"
Visar resultat 1 - 5 av 33 avhandlingar innehållade orden BRCA1 gene.
1. Gene Expression Profiling of Hereditary Breast Cancer
Sammanfattning : [abstract missing].... LÄS MER
2. Functional and Molecular Characterization of BRCA1 and BRCA2 Associated Breast Cancer
Sammanfattning : This doctoral dissertation is based on five appended papers primarily concerned with three main topics, namely: the functional characterization of specific and clinically relevant perturbations found in BRCA1 ? one of the major breast cancer susceptibility genes; the use of microarray technologies for molecular characterization of hereditary breast tumor samples from a genomic perspective; and finally, the development of software to address some of the logistical problems of data analysis and management that arise when utilizing microarrays. Results obtained from the work presented herein demonstrate the following: that transcription az says can aid in the characterization of C-terminal missense mutations but that it may not be possible to unambiguously characterize variants with a yeast-based assay alone; that a naturally occurring C-terminal germline mutation in BRCA1 encodes a protein with apparent temperature-dependant functional properties; that open-source software can provide comprehensive solutions to meet data management needs of microarray experimenters; that BRCA1 and BRCA2 associated breast tumors exhibit markedly different copy number aberrations when compared to each other as well as to sporadic tumors; and that gene expression profiling in BRCA1 and BRCA2 associated breast tumors reveals specific gene expression patterns. LÄS MER
3. Hereditary breast and ovarian cancer in western Sweden with a special focus on BRCA1 3171ins5 mutation
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
4. Genetic polymorphisms, IGF-1, and oral contraceptive use in women from high-risk breast cancer families
Sammanfattning : Breast cancer is the most common cancer among Swedish women, affecting more than 7000 women each year. About 5-10% of all breast cancers are hereditary, with a monogenic inheritance pattern, but only 2-4% are explained by germline mutations in BRCA1 or BRCA2. BRCA1/BRCA2 mutation carriers have a 60-80% risk of developing breast cancer. LÄS MER
5. Insights into breast cancer: New familial patterns and identification of a potential predictive marker
Sammanfattning : The last proportion of heredity in breast cancer has proven to be somewhat elusive despite massive attempts to identify the associated factors. Approximately 50 percent of breast cancer caused by familial factors is currently explained. LÄS MER
