Intratumor Heterogeneity Analysis Using High-Throughput DNA Sequencing

• Activity Number: 348
• Type: Topic Contributed
• Date/Time: Tuesday, August 11, 2015 : 10:30 AM to 12:20 PM
• Sponsor: WNAR
• Author(s): Ronglai Shen* and Venkatraman Seshan
• Companies: Memorial Sloan Kettering Cancer Center and Memorial Sloan Kettering Cancer Center
• Keywords: Intratumor heterogeneity ; DNA sequencing data analysis

Abstract

Intratumor heterogeneity is characterized by the presence of genetically and phenotypically distinct subclones of tumor cells within an individual tumor. Such genetic diversity within a tumor is increasingly recognized as a driver of rapid disease progression, resistance to targeted therapies, and poor survival outcome. It also has important implications in defining "actionable" driver genes in the cancer genome. Inferring subclonal genetic alterations is often confounded by tumor sample purity (normal cell contamination) and local copy number states. We present a statistical framework for inferring intratumor heterogeneity using whole-exome and whole-genome sequencing data. We demonstrate its performance in lung and breast cancer sequencing datasets.