Copy number aberrations in circulating tumor DNA enables prognosis prediction and molecular characterization of breast cancer.

ABSTRACT:

Background

Low-pass whole-genome sequencing (LP-WGS)-based circulating tumor DNA (ctDNA) analysis is a versatile tool for somatic copy number aberration (CNA) detection, and this study aims to explore its clinical implication in breast cancer.

Methods

We analyzed LP-WGS ctDNA data from 207 metastatic breast cancer (MBC) patients to explore prognostic value of ctDNA CNA burden and validated it in 465 stage II-III triple-negative breast cancer (TNBC) patients who received neoadjuvant chemotherapy in phase III PEARLY trial (NCT02441933). The clinical implication of locus level LP-WGS ctDNA profiling was further evaluated.

Results

We found that a high baseline ctDNA CNA burden predicts poor overall survival and progression-free survival of MBC patients. The post hoc analy

SUBMITTER: Kim MH 

PROVIDER: S-EPMC10483335 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature