Novel recurrently mutated genes in African American colon cancers

Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):1149-54. doi: 10.1073/pnas.1417064112. Epub 2015 Jan 12.


We used whole-exome and targeted sequencing to characterize somatic mutations in 103 colorectal cancers (CRC) from African Americans, identifying 20 new genes as significantly mutated in CRC. Resequencing 129 Caucasian derived CRCs confirmed a 15-gene set as a preferential target for mutations in African American CRCs. Two predominant genes, ephrin type A receptor 6 (EPHA6) and folliculin (FLCN), with mutations exclusive to African American CRCs, are by genetic and biological criteria highly likely African American CRC driver genes. These previously unsuspected differences in the mutational landscapes of CRCs arising among individuals of different ethnicities have potential to impact on broader disparities in cancer behaviors.

Keywords: African American; Caucasian; colon cancer; mutation; next-generation sequencing.

Publication types

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

MeSH terms

  • Black or African American / genetics*
  • Colonic Neoplasms / ethnology*
  • Colonic Neoplasms / genetics*
  • Exome
  • Female
  • Genome-Wide Association Study
  • Humans
  • Male
  • Mutation*
  • Proto-Oncogene Proteins / genetics*
  • Receptor, EphA6 / genetics*
  • Tumor Suppressor Proteins / genetics*
  • White People / genetics


  • FLCN protein, human
  • Proto-Oncogene Proteins
  • Tumor Suppressor Proteins
  • Receptor, EphA6