Screening for Lynch Syndrome in the Saudi population

Masood Tarki M Alqahtani

Research output: ThesisDoctoral Thesis

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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 languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
  • The University of Western Australia
Supervisors/Advisors
  • Iacopetta, Barry, Supervisor
  • Allcock, Richard, Supervisor
Award date8 Feb 2019
DOIs
Publication statusUnpublished - 2019

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