High-depth sequencing of over 750 genes supports linear progression of primary tumors and metastases in most patients with liver-limited metastatic colorectal cancer

摘要: Background: Colorectal cancer with metastases limited to the liver (liver-limited mCRC) is a distinct clinical subset characterized by possible cure surgery. We performed high-depth sequencing of over 750 cancer-associated genes and copy number profiling in matched primary, metastasis normal tissues characterize genomic progression 18 patients liver-limited mCRC. Results: High depth Illumina use three different variant callers enable comprehensive accurate identification somatic variants down 2.5% allele frequency. identify median 11 single nucleotide (SNVs) per tumor. Across patients, 79.3% SNVs present primary are 81.7% all alterations primary. Private found at lower frequencies; mutational signature shared private variants, suggesting processes. Using B-allele frequencies heterozygous germline SNPs profiling, we find that broad regions allelic imbalance focal changes, respectively, generally between tumor metastasis. Conclusions: Our analyses point high concordance metastasis, thick common trunk smaller branches general support linear model most More extensive studies warranted further this important population.