Nucleosome footprinting in plasma cell-free DNA for the pre-surgical diagnosis of ovarian cancer.

ABSTRACT: Fragmentation patterns of plasma cell-free DNA (cfDNA) are known to reflect nucleosome positions of cell types contributing to cfDNA. Based on cfDNA fragmentation patterns, the deviation in nucleosome footprints was quantified between diagnosed ovarian cancer patients and healthy individuals. Multinomial modeling was subsequently applied to capture these deviations in a per sample nucleosome footprint score. Validation was performed in 271 cfDNAs pre-surgically collected from women with an adnexal mass. We confirmed that nucleosome scores were elevated in invasive carcinoma patients, but not in patients with benign or borderline disease. Combining nucleosome scores with chromosomal instability scores assessed in the same cfDNA improved prediction of malignancy. Nucleosome scores were, howe

SUBMITTER: Vanderstichele A 

PROVIDER: S-EPMC9050708 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature