Sensitive detection of stage I lung adenocarcinoma using plasma cell-free DNA breakpoint motif profiling.

ABSTRACT:

Background

Early diagnosis benefits lung cancer patients with higher survival, but most patients are diagnosed after metastasis. Although cell-free DNA (cfDNA) analysis holds promise, its sensitivity for detecting early-stage lung cancer is unsatisfying. We leveraged cfDNA fragmentomics to develop a predictive model for invasive stage I lung adenocarcinoma (LUAD).

Methods

292 stage I LUAD patients from three medical centers were included together with 230 healthy controls whose plasma cfDNA samples were profiled by whole-genome sequencing (WGS). Multiple cfDNA fragmentomic motif features and machine learning models were compared in the training cohort to select the best model. Model performance was assessed in the internal and external validation cohorts and an additional da

SUBMITTER: Guo W 

PROVIDER: S-EPMC9251329 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature