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Introduction <p>Significant progress has been made in understanding and treating lung cancer. In the unique context of the Amazonian indigenous population, it is crucial to identify genetic variants in genes important for the risk of developing this cancer. There is a limitation of research on the broader genomic profile of indigenous peoples, especially in the Amazon region, in relation to lung cancer. </p> Methods <p>We evaluated the genomic profile of seven genes (<i>KRAS</i>, <i>MET</i>, <i>RET</i>, <i>ERBB2</i>, <i>BRAF</i>, <i>PDL2</i> and <i>PD-L1</i>) related to lung cancer by sequencing the exome of 64 indigenous individuals belonging to 12 ethines from the Brazilian Amazon. </p> Results <p>Our study identified six variants of moderate impact already described in the literature, located in the <i>RET</i>, <i>ERBB2</i>, <i>PDL2</i> and <i>PD-L1</i> genes. We discovered six new variants unique to the Amazonian Amerindian population, one located in the <i>KRAS</i> gene, two located in the <i>ERBB2</i> gene, and three located in the <i>PDL2</i> gene.</p> Conclusions <p>The variants studied can potentially exert a significant influence on the heredity and carcinogenesis of lung cancer.</p>

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Genomic insights on lung cancer risk: identifying new variants in Amazonian indigenous populations

  • 期刊论文

  • 发表日期：

    2025年8月28日

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  • Bruno Melo Fernandes,
  • Ana Caroline Alves da Costa,
  • Natasha Monte,
  • Kaio Evandro Cardoso Aguiar,
  • Marcella Oliveira Monte Santo,
  • Juliana Carla Gomes Rodrigues,
  • Esdras Edgar Batista Pereira,
  • João Farias Guerreiro,
  • Sidney Emanuel Batista dos Santos,
  • Ândrea Ribeiro-dos-Santos,
  • André Maurício Ribeiro-dos-Santos,
  • Rommel Mario Rodríguez Burbano,
  • Marianne Rodrigues Fernandes,
  • Ney Pereira Carneiro dos Santos

摘要

Introduction

Significant progress has been made in understanding and treating lung cancer. In the unique context of the Amazonian indigenous population, it is crucial to identify genetic variants in genes important for the risk of developing this cancer. There is a limitation of research on the broader genomic profile of indigenous peoples, especially in the Amazon region, in relation to lung cancer.

Methods

We evaluated the genomic profile of seven genes (KRAS, MET, RET, ERBB2, BRAF, PDL2 and PD-L1) related to lung cancer by sequencing the exome of 64 indigenous individuals belonging to 12 ethines from the Brazilian Amazon.

Results

Our study identified six variants of moderate impact already described in the literature, located in the RET, ERBB2, PDL2 and PD-L1 genes. We discovered six new variants unique to the Amazonian Amerindian population, one located in the KRAS gene, two located in the ERBB2 gene, and three located in the PDL2 gene.

Conclusions

The variants studied can potentially exert a significant influence on the heredity and carcinogenesis of lung cancer.