Integrated Analysis of Genetic Ancestry and Genomic Alterations across Cancers

Cancer Cell. 2018 Oct 8;34(4):549-560.e9. doi: 10.1016/j.ccell.2018.08.019.


Disparities in cancer care have been a long-standing challenge. We estimated the genetic ancestry of The Cancer Genome Atlas patients, and performed a pan-cancer analysis on the influence of genetic ancestry on genomic alterations. Compared with European Americans, African Americans (AA) with breast, head and neck, and endometrial cancers exhibit a higher level of chromosomal instability, while a lower level of chromosomal instability was observed in AAs with kidney cancers. The frequencies of TP53 mutations and amplification of CCNE1 were increased in AAs in the cancer types showing higher levels of chromosomal instability. We observed lower frequencies of genomic alterations affecting genes in the PI3K pathway in AA patients across cancers. Our result provides insight into genomic contribution to cancer disparities.

Keywords: cancer disparities; cancer genetics; cancer genomics.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • African Americans / genetics
  • Chromosomal Instability / genetics*
  • European Continental Ancestry Group / genetics
  • Female
  • Genomics
  • Humans
  • Male
  • Mutation / genetics*
  • Neoplasms / genetics*
  • Phosphatidylinositol 3-Kinases / genetics*
  • Polymorphism, Single Nucleotide / genetics


  • Phosphatidylinositol 3-Kinases