Sensitive and specific multi-cancer detection and localization using methylation signatures in cell-free DNA.

ABSTRACT:

Background

Early cancer detection could identify tumors at a time when outcomes are superior and treatment is less morbid. This prospective case-control sub-study (from NCT02889978 and NCT03085888) assessed the performance of targeted methylation analysis of circulating cell-free DNA (cfDNA) to detect and localize multiple cancer types across all stages at high specificity.

Participants and methods

The 6689 participants [2482 cancer (>50 cancer types), 4207 non-cancer] were divided into training and validation sets. Plasma cfDNA underwent bisulfite sequencing targeting a panel of >100 000 informative methylation regions. A classifier was developed and validated for cancer detection and tissue of origin (TOO) localization.

Results

Performance was consistent in training

SUBMITTER: Liu MC 

PROVIDER: S-EPMC8274402 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature