Transformer-based AI technology improves early ovarian cancer diagnosis using cfDNA methylation markers.
Cell Rep Med
; 5(8): 101666, 2024 Aug 20.
Article
en En
| MEDLINE
| ID: mdl-39094578
ABSTRACT
Epithelial ovarian cancer (EOC) is the deadliest women's cancer and has a poor prognosis. Early detection is the key for improving survival (a 5-year survival rate in stage I/II is over 70% compared to that of 25% in stage III/IV) and can be achieved through methylation markers from circulating cell-free DNA (cfDNA) using a liquid biopsy. In this study, we first identify top 500 EOC markers differentiating EOC from healthy female controls from 3.3 million methylome-wide CpG sites and validated them in 1,800 independent cfDNA samples. We then utilize a pretrained AI transformer system called MethylBERT to develop an EOC diagnostic model which achieves 80% sensitivity and 95% specificity in early-stage EOC diagnosis. We next develop a simple digital droplet PCR (ddPCR) assay which archives good performance, facilitating early EOC detection.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neoplasias Ováricas
/
Biomarcadores de Tumor
/
Metilación de ADN
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Detección Precoz del Cáncer
/
Ácidos Nucleicos Libres de Células
Límite:
Female
/
Humans
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Middle aged
Idioma:
En
Revista:
Cell Rep Med
Año:
2024
Tipo del documento:
Article
Pais de publicación:
Estados Unidos