Genome-Wide Association Studies of Cancer in Diverse Populations - PubMed (original) (raw)

Review

Genome-Wide Association Studies of Cancer in Diverse Populations

Sungshim L Park et al. Cancer Epidemiol Biomarkers Prev. 2018 Apr.

Abstract

Genome-wide association studies (GWAS) of cancer have identified more than 700 risk loci, of which approximately 80% were first discovered in European ancestry populations, approximately 15% in East Asians, 3% in multiethnic scans, and less than 1% in African and Latin American populations. These percentages closely mirror the distribution of samples included in the discovery phase of cancer GWAS to date (84% European, 11% East Asian, 4% African, and 1% Latin American ancestry). GWAS in non-European ancestry populations have provided insight into ancestry-specific variation in cancer and have pointed to regions of susceptibility that are of particular importance in certain populations. Uncovering and characterizing cancer risk loci in diverse populations is critical for understanding underlying biological mechanisms and developing future genetic risk prediction models in non-European ancestry populations. New GWAS and continued collaborations will be required to eliminate population inequalities in the number of studies, sample sizes, and variant content on GWAS arrays, and to better align genetic research in cancer to the global distribution of race/ethnicity Cancer Epidemiol Biomarkers Prev; 27(4); 405-17. ©2018 AACRSee all articles in this CEBP Focus section, "Genome-Wide Association Studies in Cancer."

©2017 American Association for Cancer Research.

PubMed Disclaimer

Figures

Figure 1

Figure 1

The number of cancer cases included in the discovery stage of GWAS by ancestral population and cancer site. Shown are cancer sites with >100 cancer cases in a discovery stage.

Figure 2

Figure 2

The distribution of cancer cases in the discovery stage of GWAS of cancer by ancestral population (overall n ~478,000)

Similar articles

Cited by

References

    1. Rosenberg NA, Huang L, Jewett EM, Szpiech ZA, Jankovic I, Boehnke M. Genome-wide association studies in diverse populations. Nat Rev Genet. 2010;11:356–66. - PMC - PubMed
    1. Popejoy AB, Fullerton SM. Genomics is failing on diversity. Nature. 2016;538:161–4. - PMC - PubMed
    1. Martin AR, Gignoux CR, Walters RK, Wojcik GL, Neale BM, Gravel S, et al. Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations. The American Journal of Human Genetics - PMC - PubMed
    1. Howlader N, Noone A, Krapcho M, Neyman N, Aminou R, WW, et al. [September 1, 2015];SEER Cancer Statistics Review, 1975–2013. 2016 Apr; Available from: http://seer.cancer.gov/csr/1975_2013, based on November 2015 SEER data submission, posted to the SEER web site.
    1. Han Y, Rand KA, Hazelett DJ, Ingles SA, Kittles RA, Strom SS, et al. Prostate Cancer Susceptibility in Men of African Ancestry at 8q24. J Natl Cancer Inst. 2016:108. - PMC - PubMed

Publication types

MeSH terms

Grants and funding

LinkOut - more resources