Abstract
Familial nonmedullary thyroid carcinoma is a hereditary cancer that affects two or more first degree relatives, the cause of which is largely unknown. This study utilised whole exome sequencing to identify potentially pathogenic rare variants that may be implicated in this disease. A variant in the RASSF1A gene was identified and functional studies showed a plausible role for this variant in tumourigenesis. Evidence for the possible involvement of the SRRM2 gene in other kindreds was also presented. However, in most kindreds, FNMTC is likely to be a polygenic disease, and the genetic architecture underlying it has not yet been elucidated.
| Original language | English |
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| Qualification | Doctor of Philosophy |
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| Award date | 2 Feb 2019 |
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| Publication status | Unpublished - 2019 |
Access to Document
- THESIS - DOCTOR OF PHILOSOPHY - WEEKS Alexia Lampropoulos - 2019
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