Identification of genomic variants associated with colorectal cancer heredity in indigenous populations of the Amazon.

Colorectal cancer (CRC) is a major global health concern, with genetic factors influencing its development. This study investigated the genomic profile of Amazonian indigenous populations (INDG) by analyzing five genes-APC, MLH1, MSH2, MSH6, and PMS2-associated with CRC. A total of 64 healthy individuals from 12 ethnic groups were analyzed using exome sequencing and bioinformatic tools. We identified 55 genetic variants, including three novel variants exclusive to the INDG, located in the MLH1 and MSH6 genes, which may represent genetic risks for CRC in this population. Additionally, three high-impact variants, already described in the literature, were identified in the APC and MSH2 genes. The study highlights the genetic isolation of Amazonian indigenous groups, with notable differences compared to continental populations. These findings emphasize the need for further genomic research to enhance the understanding of genetic risk factors and improve early detection and targeted therapies in vulnerable populations.