Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.
Cancer Prevention Institute of California, Fremont, California.
Cancer Epidemiol Biomarkers Prev. 2018 Apr;27(4):405-417. doi: 10.1158/1055-9965.EPI-17-0169. Epub 2017 Jun 21.
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
全基因组关联研究(GWAS)已经确定了超过 700 个癌症风险位点,其中约 80%最初是在欧洲血统人群中发现的,约 15%在东亚人群中,3%在多民族扫描中,不到 1%在非洲和拉丁裔人群中。这些百分比与迄今为止癌症 GWAS 发现阶段中包含的样本分布非常相似(84%欧洲血统,11%东亚血统,4%非洲血统,1%拉丁裔血统)。非欧洲血统人群的 GWAS 提供了对癌症中特定种族变异的深入了解,并指出了在某些人群中特别重要的易感区域。在不同人群中发现和描述癌症风险位点对于理解潜在的生物学机制和在非欧洲血统人群中开发未来的遗传风险预测模型至关重要。需要新的 GWAS 和持续的合作,以消除研究数量、样本量和 GWAS 阵列中变异内容方面的人群不平等,并使癌症的遗传研究更好地与种族/民族的全球分布保持一致。