Phylogenetic quantification of intratumor heterogeneity

Item Type:	Article
Title:	Phylogenetic quantification of intratumor heterogeneity
Creators Name:	Watkins, T.B.K. and Schwarz, R.F.
Abstract:	As sequencing efforts continue to reveal the extent of the intratumor heterogeneity (ITH) present in human cancers, the importance of evolutionary studies attempting to trace its etiology has increased. Sequencing multiple samples or tumor regions from the same patient has become affordable and is an effective way of tracing these evolutionary pathways, understanding selection, and detecting clonal expansions in ways impractical with single samples alone. In this article, we discuss and show the benefits of such multisample studies. We describe how multiple samples can guide tree inference through accurate phasing of germline variants and copy-number profiles. We show their relevance in detecting clonal expansions and deriving summary statistics quantifying the overall degree of ITH, and discuss how the relationship of metastatic clades might give us insight into the dominant mode of cancer progression. We further outline how multisample studies might help us better understand selective processes acting on cancer genomes and help to detect neutral evolution and mutator phenotypes.
Keywords:	Genetic Heterogeneity, Neoplasm Metastasis, Neoplasms, Neoplastic Processes, Phylogeny, Single Nucleotide,Polymorphism, Whole Genome Sequencing
Source:	Cold Spring Harbor Perspectives in Medicine
ISSN:	2157-1422
Publisher:	Cold Spring Harbor Laboratory Press
Volume:	8
Number:	4
Page Range:	a028316
Date:	April 2018
Official Publication:	https://doi.org/10.1101/cshperspect.a028316
PubMed:	View item in PubMed

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