The Molecular Characterization of Thyroid Cancer in the UAE

  • Fatima Y. Alshamsi

Student thesis: Master's Thesis

Abstract

Thyroid cancer (TC) is the third most common cancer type in the United Arab Emirates, and its incidences are increasing across the globe. It is the most heritable cancer out of all cancer types not displaying typical Mendelian inheritance, and this project is one of the first efforts towards understanding its genetic presentation in the region. This research begins by compiling a solid background about the existing efforts to understand the disease, clinically and genetically. The following chapters summarize the genetic presentation of the thyroid malignancy in different ethnic groups, specifically in genome wide association studies. Identifying these causative variants was the basis for the next step, proving the differences in the expression of TC mutations in the Arab ethnicity. This objective was approached in two ways: genotyping TC mutations in a large Emirati cohort, and performing statistical analysis of retrospective allele frequency data of other ethnicities. Based on the allele frequency data from all 25 SNPs in this study, ethnic groups from East Asia were the least comparable to the UAE population. The Ashkenazi Jews, on the other hand, had the most similar allele frequency to the Emirati population. The study's emphasis on the variability of allele frequency in these polymorphisms across the ethnic groups of interest underscores the need to evaluate oncogenic data from an enter-ethnic perspective. Specifically, the paucity of Arab representation in oncogenic data lends another layer of significance to the study's findings. To further explore the characterization of the disease in the UAE, papillary tumor and blood samples from papillary thyroid cancer (PTC) cases were analyzed using next-generation sequencing technology. This study uses somatic variant analysis to determine the distribution of pathogenic carcinogenesis mutations in individuals with PTC. Furthermore, the findings show that the genotypic profiles of distinct types of PTC change between phenotypic presentations of the disease, reflecting histological characteristics and metastatic tendencies. This study also revealed 16 novel variants in carcinogenic loci, of which 3 are ACMG-classified pathogenic.
Date of AwardDec 2021
Original languageAmerican English

Keywords

  • Thyroid cancer
  • mutations
  • tumor genetics
  • genetic variants
  • SNP
  • sequencing.

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