Estimating Tumor Purity/Ploidy and Subclone Structure Using Multiple Types of Omic Data

• Activity Number: 103
• Type: Invited
• Date/Time: Monday, August 1, 2016 : 8:30 AM to 10:20 AM
• Sponsor: ENAR
• Author(s): Chong Jin and Wei Sun* and Mengjie Chen and Danyu Lin
• Companies: The University of North Carolina at Chapel Hill and Fred Hutchinson Cancer Research Center and The University of North Carolina at Chapel Hill and The University of North Carolina at Chapel Hill
• Keywords: Intra-tumor heterogeneity ; cancer genomics ; genomics ; copy number ; gene expression ; DNA methylation

Abstract

Intra-tumor heterogeneity (ITH) refers to the fact that tumor cells of one patient are composed of multiple subclones and the tumor cells within each subclone share the same set of somatic mutations. Due to ITH, a targeted cancer drug may kill part of the tumor cells harboring the target but leave other tumor cells untouched. Precision medicine aims to treat cancer patients based on their genomic lesions and a fundamental hurdle to this goal is to discern ITH based on genomic data. To precisely characterize somatic mutations within each subclone, one has to account for somatic copy number changes which in turn relies on unknown purity and ploidy of each tumor. We propose to estimate purity, ploidy, and sublcone structures using multiple types of omic data, including somatic copy number abberation, gene expression, and DNA methylation.