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Title: Gene Expression in High-risk Breast and Ovarian Cancer Patients
Author: Brazil, Lucy Caroline Alexandra
ISNI:       0000 0004 2678 8449
Awarding Body: Imperial College London (University of London)
Current Institution: Institute of Cancer Research
Date of Award: 2008
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Germline mutations in human BRCA 1 and BRCA2 genes confer a lifetime risk of breast cancer of between 60 and 85% and a lifetime risk of ovarian cancer of between 15 and 40%. Identification of mutations in these genes either in healthy carriers or in those who have already developed cancer is important for clinical management, including prophylactic measures to reduce the risk of disease. BRCA 1 and BRCA2 were identified more than 10 years ago, but due to a number of features such as large gene size and heterogeneity of mutations, genetic testing of BRCA is both labour intensive and often inconclusive. The aim of this project is to find a characteristic phenotype that is indicative of BRCA heterozygosity in individuals without clinical signs of disease. This could be used as a functional preliminary screen for these high-risk patients. Previous studies have illustrated the differences in gene expression profiles between 'normal' and BReA derived tumours. Studies using chicken DT 40 cell lines have shown that a Brca2 heterozygote phenotype exil:?ts but, this is as yet to be conClusively demonstrated in humans. . In this study, gene expression profiles, from 'healthy' patients who are heterozygous for BRCA have been analysed using data from microarrays. RNA was prepared from immortalized Epstein-Barr virus transformed human lymphocyte (EBVTL) cell lines, taken from normal controls and carriers for BRCA 1 and BRCA2 mutations. Gene expression profiies were also assessed before and after exposure to DNA damaging agents.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (M.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available