Bibliographic Details
| Title: |
Nucleosome footprinting in plasma cell-free DNA for the pre-surgical diagnosis of ovarian cancer |
| Authors: |
Adriaan Vanderstichele, Pieter Busschaert, Chiara Landolfo, Siel Olbrecht, An Coosemans, Wouter Froyman, Liselore Loverix, Nicole Concin, Elena Ioana Braicu, Pauline Wimberger, Els Van Nieuwenhuysen, Sileny N. Han, Toon Van Gorp, Tom Venken, Ruben Heremans, Patrick Neven, Tom Bourne, Ben Van Calster, Dirk Timmerman, Diether Lambrechts, Ignace Vergote |
| Source: |
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022) |
| Publisher Information: |
Nature Portfolio, 2022. |
| Publication Year: |
2022 |
| Collection: |
LCC:Medicine
LCC:Genetics |
| Subject Terms: |
Medicine, Genetics, QH426-470 |
| More Details: |
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, however, more reliable to predict non-high-grade serous ovarian tumors, which are characterized by low chromosomal instability. These data highlight that compared to chromosomal instability, nucleosome footprinting provides a complementary and more generic read-out for pre-surgical diagnosis of invasive disease in women with adnexal masses. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2056-7944 |
| Relation: |
https://doaj.org/toc/2056-7944 |
| DOI: |
10.1038/s41525-022-00300-5 |
| Access URL: |
https://doaj.org/article/6571537f895e4d2b8a539a4af5fd1176 |
| Accession Number: |
edsdoj.6571537f895e4d2b8a539a4af5fd1176 |
| Database: |
Directory of Open Access Journals |
