Whole genome sequencing of metastatic colorectal cancer reveals prior treatment effects and specific metastasis features.

ABSTRACT: In contrast to primary colorectal cancer (CRC) little is known about the genomic landscape of metastasized CRC. Here we present whole genome sequencing data of metastases of 429 CRC patients participating in the pan-cancer CPCT-02 study (NCT01855477). Unsupervised clustering using mutational signature patterns highlights three major patient groups characterized by signatures known from primary CRC, signatures associated with received prior treatments, and metastasis-specific signatures. Compared to primary CRC, we identify additional putative (non-coding) driver genes and increased frequencies in driver gene mutations. In addition, we identify specific genes preferentially affected by microsatellite instability. CRC-specific 1kb-10Mb deletions, enriched for common fragile sites, and LINC00

SUBMITTER: Mendelaar PAJ 

PROVIDER: S-EPMC7835235 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature