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<p>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—<i>APC, MLH1, MSH2, MSH6</i>, and <i>PMS2</i>—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 <i>MLH1</i> and <i>MSH6</i> 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 <i>APC</i> and <i>MSH2</i> 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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月26日

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  • Ian Barroso dos Santos,
  • Ana Caroline Alves da Costa,
  • Laura Patrícia Albarello Gellen,
  • Lucas Lincoln Santos Sales,
  • Natasha Monte,
  • Francisco Cezar Aquino de Moraes,
  • Marcella Oliveira Monte Santo,
  • Juliana Carla Gomes Rodrigues,
  • Paulo Pimentel de Assumpção,
  • João Farias Guerreiro,
  • Sidney Emanuel Batista dos Santos,
  • Lui Wallacy Morikawa Souza Vinagre,
  • Ândrea Ribeiro-dos-Santos,
  • André Maurício Ribeiro-dos-Santos,
  • Marianne Rodrigues Fernandes,
  • Tereza Cristina de Brito Azevedo,
  • Rommel Mario Rodríguez Burbano,
  • Ney Pereira Carneiro dos Santos

摘要

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.