Search for dissertations about: "BRCA1 and BRCA2"

Showing result 1 - 5 of 36 swedish dissertations containing the words BRCA1 and BRCA2.

2. 1. Functional and Molecular Characterization of BRCA1 and BRCA2 Associated Breast Cancer

   Author : Johan Vallon-Christersson; Bröstcancer-genetik; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; onkologi; cancer; Cytologi; cancerology; Cytology; BioArray Software Environment; BASE; Software; Open-source; Copy number; Gene expression; Microarray; BRCA2; BRCA1; Breast cancer; Hereditary cancer; oncology;

   Abstract : 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. READ MORE

4. 2. On the genetics of hereditary breast/ovarian cancer. BRCA1, BRCA2 and beyond

   Author : Annika Bergman; Göteborgs universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; BRCA1; BRCA2; breast cancer; hereditary cancer; founder mutation; mutation analysis; linkage analysis; genome scan; BRCAX;

   Abstract : Breast cancer is the most common malignancy in women. Most of the breast cancers are sporadic with no apparent inheritance factor but about 5-10% is believed to be caused by an inherited predisposition. Aims: This thesis aimed at defining the BRCA1/2 mutation spectrum of the west Swedish population and specifically to characterize the BRCA1c. READ MORE

5. 3. Impact of Lifestyle, Hormones, and Genes on Breast Cancer

   Author : Maria Hietala; Bröstcancer-genetik; []
   Keywords : 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;

   Abstract : 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. READ MORE

6. 4. 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

7. 5. Molecular Genetic Alterations In Endometrial And Ovarian Cancers

   Author : Anjila Koul; Bröstcancer-genetik; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; KRAS; PTEN; TP53; Overexpression; Mutation; Microsatellite instability; Complex atypical hyperplasia; Endometrial cancer; Ovarian cancer; cancer; onkologi; Cytologi; cancerology; oncology; Cytology; CNS metastasis; Cytogenetic analysis; BRCA2; BRCA1; B-catenin; CDKN2A;

   Abstract : Endometrial cancer is the most common gynecological cancer diagnosed in western countries. Complex atypical hyperplasia (CAH) reflects a state of hyperestrinism and its role as a precursor lesion of this cancer is established. READ MORE