Related Experiment Video
Updated: Sep 9, 2025

Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
Genomic insights on lung cancer risk: identifying new variants in Amazonian indigenous populations
Bruno Melo Fernandes1, Ana Caroline Alves da Costa1, Natasha Monte1
1Oncology Research Center, Federal University of Pará, Belém, PA, 66073, Brazil.
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.
More Related Videos
05:53Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
Published on: August 21, 2016
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Cancer Prevention
Some...
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Genetic Variation
Genes exist in different versions called alleles,...
Cancer-Critical Genes I: Proto-oncogenes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...