Concordance of Targeted Sequencing from Circulating Tumor DNA and Paired Tumor Tissue for Early Breast Cancer

In this study, we evaluated the concordance of targeted sequencing between paired ctDNA and matched tumor samples from early breast cancers treated with curative intention. Molecular profiling was performed using the Oncomine Comprehensive Assay v3 and the Oncomine Breast cfDNA Assay v2. The liquid...

Full description

Bibliographic Details
Main Authors: Chi-Cheng Huang, Yi-Fang Tsai, Chun-Yu Liu, Pei-Ju Lien, Yen-Shu Lin, Ta-Chung Chao, Chin-Jung Feng, Yen-Jen Chen, Jiun-I Lai, Han-Fang Cheng, Bo-Fang Chen, Chih-Yi Hsu, Jen-Hwey Chiu, Ling-Ming Tseng
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:Cancers
Subjects:
Online Access:https://www.mdpi.com/2072-6694/15/18/4475
Description
Summary:In this study, we evaluated the concordance of targeted sequencing between paired ctDNA and matched tumor samples from early breast cancers treated with curative intention. Molecular profiling was performed using the Oncomine Comprehensive Assay v3 and the Oncomine Breast cfDNA Assay v2. The liquid biopsy detection rate was 39% (all-stage breast cancers, n = 612). Among 246 early-stage patients assayed for both ctDNA and matched tumor, the cfDNA assay detected 73 (29.6%) and the comprehensive assay detected 201 (81.7%) breast cancers with at least one alteration (χ<sup>2</sup> test, <i>p</i> = 0.001). In total, 67 (25.6%) cases tested positive on both platforms, while the cfDNA and comprehensive assays detected an additional 10 (4%) and 138 (56%) cases, respectively. The most prevalent mutant genes were <i>TP53</i> (68.3%) and <i>KRAS</i> (53.5%), while the <i>PIK3CA</i> (39.4%), <i>AKT1</i> (45.9%), and <i>ERBB2</i> (17.1%) mutations constituted biomarkers for FDA-approved therapeutics. Our study showed that tumor tissue should be the source of actionable mutation detection for early breast cancers, considering that the concordance rate between tumor and liquid biopsy was only one-quarter.
ISSN:2072-6694