Polygenic risk scores for cervical HPV infection, neoplasia and cancer show potential for personalised screening: comparison of two methods.

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State: Public
Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_2F36ADE09E9C
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Polygenic risk scores for cervical HPV infection, neoplasia and cancer show potential for personalised screening: comparison of two methods.
Journal
Infectious agents and cancer
Author(s)
Tisler A., Uusküla A., Ojavee S.E., Läll K., Laisk T.
Working group(s)
Estonian Biobank research team
Contributor(s)
Metspalu A., Milani L., Esko T., Mägi R., Nelis M., Hudjashov G.
ISSN
1750-9378 (Print)
ISSN-L
1750-9378
Publication state
Published
Issued date
07/12/2023
Peer-reviewed
Oui
Editor
Metspalu A Milani L. Esko T. Magi R. Nelis M. Hudjashov G., Estonian Biobank research team
Volume
18
Number
1
Pages
82
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
The era of precision medicine requires the achievement of accurate risk assessment. Polygenic risk scores (PRSs) have strong potential for increasing the benefits of nationwide cancer screening programs. The current pool of evidence on the role of a PRS as a risk stratification model in actual practice and implementation is limited. To better understand the impact of possible method-induced variance, we constructed and validated two PRSs for cervical cancer (CC) using the Estonian Biobank female population (691 CC cases and 13,820 controls) and evaluated their utility in predicting incident cervical neoplasia (CIN), cancer, and human papillomavirus (HPV) infection using two methods (LDPred and BayesRR-RC). This study demonstrated that two genetic risk scores were significantly associated with CIN, CC, and HPV infection incidence. Independent of the method, we demonstrated that women with elevated PRS values reached the observed cumulative risk levels of CIN or CC much earlier. Our results indicated that the PRS-based discrimination rules could differ substantially when the PRSs contain similar predictive information. In summary, our analysis indicated that PRSs represent a personalized genetic component that could be an additional tool for cervical cancer risk stratification, and earlier detection of abnormalities provides invaluable information for those at high risk.
Keywords
Cervical cancer, Cervical intraepithelial neoplasia, HPV, Polygenic risk score, Screening
Pubmed
Open Access
Yes
Create date
12/12/2023 9:28
Last modification date
09/08/2024 14:57
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