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Clinical Trial
. 2015 Jan 27;112(4):1149-54.
doi: 10.1073/pnas.1417064112. Epub 2015 Jan 12.

Novel recurrently mutated genes in African American colon cancers

Kishore Guda  1 , Martina L Veigl  2 , Vinay Varadan  3 , Arman Nosrati  4 , Lakshmeswari Ravi  4 , James Lutterbaugh  4 , Lydia Beard  4 , James K V Willson  5 , W David Sedwick  6 , Zhenghe John Wang  7 , Neil Molyneaux  8 , Alexander Miron  8 , Mark D Adams  9 , Robert C Elston  10 , Sanford D Markowitz  11 , Joseph E Willis  12
Affiliations
Clinical Trial

Novel recurrently mutated genes in African American colon cancers

Kishore Guda et al. Proc Natl Acad Sci U S A. .

Abstract

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.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Fig. 1.
Fig. 1.
Somatic mutations in EPHA6 and FLCN. (A) Somatic mutations mapped to EPHA6 and FLCN protein coding regions (gray bars). Colored boxes indicated annotated protein structural domains. (B) Annotation of EPHA6 and FLCN mutations in respective tumor samples.
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