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Chunk #31 — Results — Multiplicity analysis of somatic point mutations

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Absolute quantification of somatic DNA alterations in human cancer.
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The distribution of multiplicities of the subclonal mutations was similar in the majority of samples (Fig. 4b) -- it rapidly increased at the sample-specific detection limit and then decreased in a manner approximated by an exponential decay in the multiplicity range of 0.05 to 0.5 when pooling across all samples (not shown). In contrast, the HGS-OvCa sample TCGA-24-1603 (Fig. 4d-f) showed evidence for discrete “ macroscopic subclones”. Rescaling of subclonal SCNAs (Fig. 4d) and point mutations (Fig. 4e) to units of cancer cell-fraction (Fig. 4f) revealed discrete clusters near fractions 0.2, 0.3, and 0.6 (Fig. 4f), implying the alterations within each cluster likely co-occurred in the same cells. We note that this combination of cell fractions sums to more than 1, implying that at least one of the detected subclones was nested inside another.