Abstract
Lynch syndrome is a genetic condition that predisposes to colorectal cancer and is due to gemillne mutations in mismatch repair genes. The aim of this thesis was to identify families with Lynch syndrome in the Saudi population by screening for mlcrosatellite instability. The frequency of microsatellite instability was 11.6% and 13 patients were recruited for germline mutation testing. Of these, 8 were confirmed to have pathogenic variants. We conclude that 7% of young Saudi colorectal cancer patients have Lynch syndrome and that testing for microsatellite instability in colorectal cancer is a feasible and cost effective way to identify this condition.
| Original language | English |
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| Qualification | Doctor of Philosophy |
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| Award date | 8 Feb 2019 |
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| Publication status | Unpublished - 2019 |
Access to Document
- THESIS - DOCTOR OF PHILOSOPHY - ALQAHTANI Masood - 2019
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