Whole exome sequencing of primary colorectal cancers, brain metastases and associated brain metastasis derived stem cell cultures

To identify ubiquitous and shared variations as well as new variations of interest in primary tumors, brain metastases (BM) and derived cell lines (BM-SC-CRC), we performed a whole exome sequencing. We found that variant classification and type were mainly represented by missense mutations and single nucleotide polymorphism in primary tumors, BM, and derived BM-SC-CRC for all patients. Separate patient analysis showed shared and specific variations between sample types whereas combined analysis showed that KMT2C c.2961C>G /p.(Tyr987ter) variant was the only one common from primary tumor to metastasis and cell lines, clinically actionable, and described as pathogenic by generating a stop codon in Zinc finger domain of the protein.