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
{"title":"肺癌风险的基因组见解：在亚马逊土著人群中识别新的变异。","authors":"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","doi":"10.1007/s12094-025-04033-6","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>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><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>The variants studied can potentially exert a significant influence on the heredity and carcinogenesis of lung cancer.</p>","PeriodicalId":50685,"journal":{"name":"Clinical & Translational Oncology","volume":" ","pages":""},"PeriodicalIF":2.5000,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genomic insights on lung cancer risk: identifying new variants in Amazonian indigenous populations.\",\"authors\":\"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\",\"doi\":\"10.1007/s12094-025-04033-6\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>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><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>The variants studied can potentially exert a significant influence on the heredity and carcinogenesis of lung cancer.</p>\",\"PeriodicalId\":50685,\"journal\":{\"name\":\"Clinical & Translational Oncology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.5000,\"publicationDate\":\"2025-08-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical & Translational Oncology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s12094-025-04033-6\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical & Translational Oncology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12094-025-04033-6","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ONCOLOGY","Score":null,"Total":0}
Genomic insights on lung cancer risk: identifying new variants in Amazonian indigenous populations.
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.
期刊介绍：
Clinical and Translational Oncology is an international journal devoted to fostering interaction between experimental and clinical oncology. It covers all aspects of research on cancer, from the more basic discoveries dealing with both cell and molecular biology of tumour cells, to the most advanced clinical assays of conventional and new drugs. In addition, the journal has a strong commitment to facilitating the transfer of knowledge from the basic laboratory to the clinical practice, with the publication of educational series devoted to closing the gap between molecular and clinical oncologists. Molecular biology of tumours, identification of new targets for cancer therapy, and new technologies for research and treatment of cancer are the major themes covered by the educational series. Full research articles on a broad spectrum of subjects, including the molecular and cellular bases of disease, aetiology, pathophysiology, pathology, epidemiology, clinical features, and the diagnosis, prognosis and treatment of cancer, will be considered for publication.
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