Noninvasive Cell-Free DNA-Based Detection of Copy Number Variations in Breast and Ovarian Cancer Samples Using Single Nucleotide Polymorphism-Targeted Massively Multiplexed PCR

摘要

C-class cancers, such as breast and ovarian cancers, typically have a mutation profile that is predominated by copy number variations (CNVs), therefore, diagnostic methods incorporating CNV analysis may have significantly greater coverage than those using single nucleotide variations (SNVs) alone. Here, we employed a single nucleotide polymorphism (SNP)-based massively multiplexed PCR (mmPCR) assay for CNVs in plasma circulating tumor DNA (ctDNA) from 31 breast cancer patients (seven stage I, eighteen stage II, and six stage III) and five ovarian cancer patients (four stage III and one stage IV).