Dataset related to article "Genomic instability analysis in DNA from Papanicolaou test provides proof-of-principle early diagnosis of high-grade serous ovarian cancer"
type: Item
instance of: data set
description: This record contains data related to the article "Genomic instability analysis in DNA from Papanicolaou test provides proof of principle early diagnosis of high-grade serous ovarian cancer".AbstractLate diagnosis and the lack of screening methods for early detection define high-grade serous ovarian cancer (HGSOC) as the gynecological malignancy with the highest mortality rate. In the work presented here, we investigated a retrospective and multicentric cohort of 250 archival Papanicolaou (Pap) test smears collected during routine gynecological screening. Samples were taken at different time points (from 1 month to 13.5 years before diagnosis) from 113 presymptomatic women who were subsequently diagnosed with HGSOC (pre-HGSOC) and from 77 healthy women. Genome instability was detected through low-pass whole-genome sequencing of DNA derived from Pap test samples in terms of copy number profile abnormality (CPA). CPA values of DNA extracted from Pap test samples from pre-HGSOC women were substantially higher than those in samples from healthy women. Consistently with the longitudinal analysis of clonal pathogenic TP53 mutations, this assay could detect HGSOC presence up to 9 years before diagnosis. This finding confirms the continual shedding of tumor cells from fimbriae toward the endocervical canal, suggesting a new path for the early diagnosis of HGSOC. We integrated the CPA score into the EVA (early ovarian cancer) test, the sensitivity of which was 75% (95% CI, 64.97 to 85.79), the specificity 96% (95% CI, 88.35 to 100.00), and the accuracy 81%. This proof-of-principle study indicates that the early diagnosis of HGSOC is feasible through the analysis of genomic alterations in DNA from endocervical smears.
publication date: 2023-10-17T00:00:00Z
author: Lara Paracchini
author: Laura Mannarino
author: Chiara Romualdi
author: Riccardo Zadro
author: Luca Beltrame
author: Ilaria Fuso Nerini
author: Paolo Zola
author: Maria Elena Laudani
author: Eva Pagano
author: Livia Giordano
author: Robert Fruscio
author: Fabio Landoni
author: Silvia Franceschi
author: Maria Luisa Dalessandro
author: Vincenzo Canzonieri
author: Luca Bocciolone
author: Domenica Lorusso
author: Cristina Bosetti
author: Francesco Raspagliesi
author: Isabella Garassino
author: the Towards Group
author: Maurizio D'Incalci
author: Sergio Marchini
Zenodo ID: 10013057
DOI: 10.5281/zenodo.10013057
copyright license: Creative Commons Attribution 4.0 International
MaRDI profile type: MaRDI dataset profile
description: Dataset published at Zenodo repository.