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The study of cancer, its initiation, and its mechanisms of progression has been a focal point in science for more than a century. Despite controversies among scientists, there is a growing consensus to determine the moment when a cell gains the capacity to be transformed and whether this mechanism is to be attributed to germinal or somatic events, or possibly both. The case of the Xavante Indians is a beacon for this journey, pointing toward the importance of genetic diversity in shaping our approach to cancer research and treatment. As we incorporated these lessons into clinical practice, we embarked on a new era of personalized preventative healthcare strategies against cancer. Based on recent data, we comment on the low germinal mutational load and low cancer incidence. Statistical analyses reveal a significantly lower mutation burden in Xavante women compared to global populations (p < 0.0001), including rare deleterious variants in cancer-associated genes. Additionally, polygenic risk scores (PRS) for breast cancer are markedly lower in Xavante (mean PRS ∼35) compared to TCGA cohorts (∼80–90) (p < 0.0001). The absence of breast cancer cases in Xavante is statistically significant when compared to expected rates (p < 0.001), reinforcing the hypothesis of a protective genetic landscape.
Descrição
Funding Information: J.C. acknowledges the European Research Council (ERC) under the European Union's Horizon 2020 Research and Innovation Program ( ERC-StG-2019-848325 ). JR and JC acknowledge the financial support from grants UIDP/BIM/0009/2020 (DOI 10.54499/UIDP/00009/2020 ) and UIDB/BIM/0009/2020 (DOI 10.54499/UIDB/00009/2020) from the Portuguese Foundation for Science and Technology (FCT) to the Center for Toxicogenomics and Human Health. Publisher Copyright: © 2025
Palavras-chave
Breast cancer Genomics Germline mutations Susceptibility Xavante Indians Oncology Cancer Research SDG 3 - Good Health and Well-being