Advances in basic research in oncology in 2020: Bridging basic science and clinical care
- Cancer research is advancing with an understanding of the disease at the genetic level, facilitated by massive parallel sequencing.
- The pan-cancer analysis of the whole genome (PCAWG) in 2020 documented genomic changes across 38 cancer types, involving 2658 cancer genomes.
- An average of four to five driver mutations are present in most cancer types, indicating a significant role for translational oncology.
- Approximately 5% of samples, particularly in pancreatic neuroendocrine tumors and chromophobe renal cell carcinoma, showed no mutations, highlighting the need for further research.
- PCAWG data is accessible for interactive browsing and download at http://docs.icgc.org/pcawg.
- Chromothripsis, a significant genomic event, has been identified in various cancers such as sarcomas, glioblastomas, and melanomas.
- The data emphasizes the role of genes such as ATRX and DAXX, alongside the TERT gene, in cancer development.
- Integration of genomic data with clinical information is crucial for advancing precision medicine.
- The year witnessed a focus on cancer diagnostics through "liquid biopsies," involving circulating tumoral factors like cell-free DNA and tumor cells.
- Liquid biopsies are promising for early detection and monitoring of cancer, with protein biomarkers gaining attention for their potential utility.
Cancer has now become a disease that can be understood and interpreted even at the genetic level, and the advent of massive parallel sequencing has ushered in an era of systematic documentation of these genomic changes encompassing the whole genome. The year 2020 had a dramatic start in this area with the pan-cancer analysis of the whole genome (PCAWG), a consortium of the International Cancer Genome Consortium and The Cancer Genome Atlas providing data of the integrative analysis of 2658 whole cancer genomes across 38 cancer types. While the presence of an average of four to five driver mutations among most cancer types indicates a larger role for translational oncology, the absence of mutations in up to 5% of samples (particularly in pancreatic neuroendocrine tumors and chromophobe renal cell carcinoma) also emphasizes the need to explore these tumors in larger cohorts. The data reflected by the PCAWG and its companion publications is now available as an open resource at http://docs.icgc.org/pcawg [last accessed on 28 December 2020 that allows interactive browsing and download of PCAWG data.
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