Behind the Paper

SPECTRUM OF BRAF MUTATIONS IN PAKISTANI COHORT

MOTIVATION BEHIND THE STUDY "BRAF mutations and the association of V600E with CD133 and CDX2 expression in a Pakistani colorectal carcinoma cohort " https://doi.org/10.1186/s12885-024-12925-z

Colorectal cancer remains a major cause of cancer-related morbidity and mortality worldwide, yet genomic profiling and personalized oncology are far from being a clinical reality in many underdeveloped countries. Our motivation stemmed from a deep concern over this disparity. Despite a growing burden of colorectal cancer in our region, there was a notable absence of local molecular data, particularly regarding actionable mutations such as KRAS and BRAF, which guide prognosis and therapy.

We aimed to generate baseline genomic data regarding BRAF mutations for our local population and identify associated molecular events. Genetic testing services in our country are accessible only to a privileged few, and targeted therapy options are virtually non-existent in public-sector hospitals. This reality adds urgency to our efforts, as the lack of infrastructure perpetuates a cycle of late diagnosis, suboptimal treatment, and poor outcomes.

 We hope our work not only contributes to colorectal cancer research but also highlights the need for greater investment in molecular oncology infrastructure in under-resourced settings.