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Genomic landscape of cancer in racially and ethnically diverse populations

Nature Reviews Genetics volume 26, pages 336–349 (2025)Cite this article

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Abstract

Cancer incidence and mortality rates can vary widely among different racial and ethnic groups, attributed to a complex interplay of genetic, environmental and social factors. Recently, substantial progress has been made in investigating hereditary genetic risk factors and in characterizing tumour genomes. However, most research has been conducted in individuals of European ancestries and, increasingly, in individuals of Asian ancestries. The study of germline and somatic genetics in cancer across racial and ethnic groups using omics technologies offers opportunities to identify similarities and differences in both heritable traits and the molecular features of cancer genomes. An improved understanding of population-specific cancer genomics, as well as translation of those findings across populations, will help reduce cancer disparities and ensure that personalized medicine and public health approaches are equitable across racial and ethnic groups.

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Fig. 1: A multi-omics approach to assess cancer disparities for germline and somatic tumour investigations.
Fig. 2: Linkage disequilibrium differences between ancestries can affect the identification of causal germline variants.
Fig. 3: Mutational signatures.

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Acknowledgements

The authors thank J. R. Huyghe for thoughtful review of the manuscript and B. F. Darst for scientific input and suggested references.

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  1. Public Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA

    Claire E. Thomas & Ulrike Peters

  2. Department of Epidemiology, University of Washington, Seattle, WA, USA

    Ulrike Peters

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American Cancer Society recommendations: https://www.cancer.org/cancer/types/breast-cancer/screening-tests-and-early-detection/american-cancer-society-recommendations-for-the-early-detection-of-breast-cancer.html

Confluence Project: https://confluence.cancer.gov/#home

dbSNP: https://www.ncbi.nlm.nih.gov/snp/

Genomic Data Commons Portal: https://portal.gdc.cancer.gov

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TOPMed: https://topmed.nhlbi.nih.gov/

US Census: www.census.gov

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Thomas, C.E., Peters, U. Genomic landscape of cancer in racially and ethnically diverse populations. Nat Rev Genet 26, 336–349 (2025). https://doi.org/10.1038/s41576-024-00796-w

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