Novel recurrently mutated genes in African American colon cancers
A partir d'échantillons tumoraux prélevés sur 103 patients afro-américains et 129 patients caucasiens atteints d'un cancer colorectal, cette étude identifie notamment deux gènes, EPHA6 et FLCN, dont les mutations sont spécifiquement associées à une origine ethnique afro-américaine
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.