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What is tumour heterogeneity?

Tumors are composed of many different cell types, ranging from the normal tissue micro-environment, infiltrating immune cells and tumour cells. And this group of tumour cells is itself intrinsically highly heterogeneous, driven by the rapid mutation rate of cancer cells to become a mixture of different sub-populations. Critically, these sub-populations have distinct clinical outcomes: some are more resistant to treatment, some are more likely to metastasize. These different types of cells, called subclones, have different sets of mutations in their DNA. Because some subclones evolve from others, many subclones share mutations. While it is increasingly easy to determine what mutations are present in the tumor, it remains very difficult to determine which subclones have which mutations. The task of assigning mutations to subclones is called subclonal reconstruction.


The ICGC-TCGA DREAM Somatic Mutation Calling – Tumour Heterogeneity Challenge (SMC-Het) is an international effort to improve standard methods for subclonal reconstruction: to quantify and genotype each individual cell population present within a tumor. Leaders of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA) cancer genomics projects are joining with Sage Bionetworks and IBM-DREAM to initiate this innovative open crowd-sourced Challenge [1-3].

The goal of this challenge is to identify the best subclonal reconstruction algorithms and to identify the conditions that affect their performance. By running an unbiased, comprehensive evaluation, the most appropriate method(s) will be identified.