Abstract

Background: Papillary thyroid carcinoma (PTC) is the most common type of malignancy of the endocrine system. B-Type Raf Kinase (BRAF) V600E is the prevalent mutation in PTC and plays an important role in the diagnosis, prognosis, and management of thyroid cancer. Despite global studies, the prevalence of the BRAF V600E mutation in the Pakistani population is still unexplored. This study aimed to determine the frequency of the BRAF V600E mutation in PTC patients of Pakistani origin.
Method: DNA was extracted from a total of 26 Formalin-fixed paraffin-embedded tissue specimens of PTC and was amplified by PCR. The point mutation BRAFV600E was detected in exon 15 of the BRAF gene by Sanger sequencing.
Result: A total of 10 out of 26 of the classical PTC patients were positive for the BRAF V600E mutation, which is in alignment with the global prevalence of the BRAF V600E mutation.
Conclusion: In conclusion, this pilot study gives initial insight into the prevalence of the BRAF V600E mutation in PTC patients of Pakistani origin. This study will contribute to improving diagnosis, management, and risk stratification in PTC. However, a largescale study is needed to verify the findings of this study.

Key words: Papillary thyroid cancer, BRAFV600E, mutation, prevalence, Pakistani.