IRCCS Humanitas Research Hospital & Humanitas University
Published October 17, 2023 | Version v1
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Dataset related to article "Genomic instability analysis in DNA from Papanicolaou test provides proof-of-principle early diagnosis of high-grade serous ovarian cancer"

Authors/Creators

  • 1. ROR icon Humanitas University
  • 2. ROR icon IRCCS Humanitas Research Hospital
  • 3. Università di Padova
  • 4. Università di Torino
  • 5. ROR icon University of Milano-Bicocca
  • 6. ROR icon Centro di Riferimento Oncologico
  • 7. Università degli Studi di Trieste
  • 8. Centro di Riferimento Oncologico IRCCS
  • 9. ROR icon IRCCS Ospedale San Raffaele
  • 10. Fondazione Policlinico Universitario Agostino Gemelli IRCCS
  • 11. ROR icon Mario Negri Institute for Pharmacological Research
  • 12. Fondazione IRCCS Istituto Nazionale dei Tumori
  • 13. Clinica San Carlo
  • 14. Istituto Di Ricerche Farmacologiche Mario Negri

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".

Abstract

Late 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.

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