Lawrence, Kirsty Josephine (2016). Breast cancer predisposition gene brca1, pathogenic c61g mutation in mice: synthetic viability in DNA repair and tumour development. University of Birmingham. Ph.D.
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Lawrence16PhD.pdf
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Abstract
The N-terminus of BRCA1 is clinically important as inheritance of a mutation in this region correlates to an increased risk is breast and ovarian cancer. Whilst this is fairly clear, what specific mutations do and the aetiology of the disease is not clear.
This thesis investigates N-terminal BRCA1 mutations using both \(in\) \(vitro\) and cell-based methods with a focus on DNA repair, mainly double-strand break and DNA crosslink repair. The use of chemotherapy agents is used with specific mutations to look at the individual phenotypes these create to each drug or radiation. This thesis also provides evidence on haploinsufficient or dominant negative effects of N-terminal mutations.
Overall, the N-terminus of BRCA1 can affect DNA repair and increase genome instability that may lead to tumour development.
| Type of Work: | Thesis (Doctorates > Ph.D.) | |||||||||
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| Award Type: | Doctorates > Ph.D. | |||||||||
| Supervisor(s): |
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| Licence: | All rights reserved | |||||||||
| College/Faculty: | Colleges (2008 onwards) > College of Medical & Dental Sciences | |||||||||
| School or Department: | Institute of Cancer Studies | |||||||||
| Funders: | Other | |||||||||
| Other Funders: | The University of Birmingham | |||||||||
| Subjects: | R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer) | |||||||||
| URI: | http://etheses.bham.ac.uk/id/eprint/7000 |
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