Functional annotation with expression validation identifies novel metastasis-relevant genes from post-GWAS risk loci in sporadic colorectal carcinomas

Metastasis to distal organ is the major cause of cancer death. The underlying germline genetic factors for colorectal cancer (CRC) metastasis are currently unclear. This study identifies metastasis-relevant genes and pathways via a combinatorial strategy of genome-wide association study (GWAS) of clinically defined 1282 metastasis-positive vs 1395 metastasis-negative cases, in silico functional annotation and pathway analysis, followed by expression validation of candidate genes in overall and gender-, stage- and distal-organ specific CRC subtypes.  Validated metastasis-relevant genes can serve as features for developing sub-type specific signatures to better manage metastasis-prone stage I-III CRC patients instead of the current one-size-fits-all approach. (By Dr Peh Yean Cheah, https://jmg.bmj.com/content/61/3/276 )

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