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Review
. 2025 Mar 21;17(7):1056.
doi: 10.3390/cancers17071056.

Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Scores

Peeter Padrik  1   2 , Neeme Tõnisson  3   4 , Tone Hovda  5 , Kristine Kleivi Sahlberg  6   7 , Eivind Hovig  8 , Luís Costa  9   10   11 , Gonçalo Nogueira da Costa  9   11 , Inna Feldman  12 , Filipa Sampaio  12 , Sander Pajusalu  4   13 , Kristiina Ojamaa  1   2 , Kersti Kallak  1   2 , Ave-Triin Tihamäe  14 , Laura Roht  4 , Tiina Kahre  4   13 , Anni Lepland  4 , Siim Sõber  2 , Krista Kruuv-Käo  2 , Madli Tamm  3 , Jajini Varghese  15 , Dafydd Gareth Evans  16 ; AnteNOR and BRIGHT Research Consortia
Affiliations
Review

Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Scores

Peeter Padrik et al. Cancers (Basel). .

Abstract

Background/Objectives: Polygenic risk scores (PRSs) have been extensively studied and are increasingly applied in healthcare. One of the most studied and developed areas is predictive medicine for breast cancer, but there is no wider consensus on the indications for the clinical use of PRSs for breast cancer. This current guidance endeavours to articulate the scientific evidence underpinning the clinical utility of PRSs in stratifying breast cancer risk, with a particular emphasis on clinical application. Methods: This guidance has been prepared by a group of experts who have been active in breast cancer PRS research and development, combining a review of the evidence base with expert opinion for indications for clinical use. Results: Based on data from various studies and existing breast cancer prevention and screening services, the indications for clinical use of breast cancer PRSs can be divided into the following scenarios: (1) Management of cancer-free women with a family history of cancer; (2) individual personalised breast cancer prevention and screening in healthcare services; and (3) breast cancer screening programs for more personalised screening. Conclusions: The integration of PRSs into clinical practice enables healthcare providers to deliver more accurate risk assessments, personalised prevention strategies, and optimised screening programmes, thereby improving patient outcomes and enhancing the effectiveness of breast cancer care. PRS testing represents a novel component in clinical breast cancer risk assessment, supporting a personalised, risk-based approach to breast cancer prevention and screening.

Keywords: breast cancer; genetic predisposition; personalised medicine; polygenic risk score; prevention; screening.

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Conflict of interest statement

Peeter Padrik has ownership in OÜ Antegenes. D Gareth Evans is an advisor to OÜ Antegenes. Siim Sõber owns an option for shares in OÜ Antegenes. Krista Kruuv-Käo owns an option for shares in OÜ Antegenes. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
The 10-year risk of developing breast cancer according to a woman’s age and PRS2803 percentile [44]: 99th percentile—red, 90th percentile—blue, population average—green. Population background is from breast cancer incidence data for Norway 2018–2020 (from Nordcan 2.0).
Figure 2
Figure 2
Cumulative lifetime breast cancer risks of carriers of protein-truncating pathogenic variants in breast cancer risk genes compared to women in the PRS2803 upper decile (blue). Breast cancer risks of pathogenic variant carriers are from the analysis by the Breast Cancer Association Consortium [18]. Population background is from breast cancer incidence data for Norway 2018–2020 (from Nordcan 2.0).
See this image and copyright information in PMC

References

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