Safiye Yildiz, George Rebello, Raj Ramesar
Hereditary colorectal cancer (CRC) is recognized as an escalating global public health concern, yet it remains neglected among ethnic minority, indigenous, and/or understudied populations. This study aimed to evaluate the current genetic and molecular research on hereditary and early-onset CRC in these neglected groups. A comprehensive review of literature published from 2018 to 2024 was conducted to characterize the profiles of CRC screening, diagnosis, and management in diverse underserved populations worldwide. The findings indicated that although the molecular features associated with Lynch syndrome were largely consistent across different groups, significant discrepancies were observed in early-onset CRC presentations when compared with well-studied populations. These observations suggested that neglected populations harbored unique genetic profiles that could advance the understanding of CRC pathogenesis and inform broader genetic research on other hereditary disorders. Furthermore, the feasibility of implementing the strategies developed for indigenous South African populations on a global scale was critically assessed. It was concluded that unified, region-specific approaches were essential to enhance early diagnosis, improve interventions, and ultimately contribute to a more equitable global health landscape in the management of hereditary CRC.