Novel recurrently mutated genes in African American colon cancers

Kishore Guda, Martina L. Veigl, Vinay Varadan, Arman Nosrati, Lakshmeswari Ravi, James Lutterbaugh, Lydia Beard, James K V Willson, W. David Sedwick, Zhenghe John Wang, Neil Molyneaux, Alexander Miron, Mark D. Adams, Robert C. Elston, Sanford D. Markowitz, Joseph E. Willis

Research output: Contribution to journalArticlepeer-review

97 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1149-1154
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number4
StatePublished - Jan 27 2015


  • African american
  • Caucasian
  • Colon cancer
  • Mutation
  • Next-generation sequencing

ASJC Scopus subject areas

  • General


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