Novel recurrently mutated genes in African American colon cancers

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

来源：Proceedings of the National Academy of Sciences of the United States of America, 2015, 112(4): 1149-1154.

DOI：10.1073/pnas.1417064112

• colon cancer
• African American
• next-generation sequencing
• mutation
• Caucasian

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.

• 出版日期2015-1-27