IntroductionIn recent years there have been increasing numbers of studies evaluating the clonal relatedness of distinct tumors in the same patient to determine whether the tumors arise from a common ancestral cell or if they developed entirely independently. Examples include studies that compared patterns of losses of heterozygosity (e.g., Imyanitov et al., ) and studies involving comparisons of genome‐wide copy number arrays (e.g., Bollet et al., ). Clonality testing of this nature seeks to determine if the tumors share somatic mutations or copy number changes, providing evidence that the tumors arose from the same precursor, clonal cell. The technology for conducting these investigations has changed as genetic technology has evolved, from studies of a few markers of loss of heterozygosity to genome‐wide studies of copy number profiling to, more recently, comparisons of mutational profiles from next generation sequencing. Based on such data, the determination of clonal relatedness is fundamentally statistical since many of the somatic changes in the tumors may have occurred after the tumors have evolved separately, so that the somatic fingerprints of the tumors may be quite different even if the tumors are truly clonal. Our group has developed statistical tests for clonal relatedness for use in
Biometrics – Wiley
Published: Jan 1, 2018
Keywords: ; ; ; ;
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