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The Clinical Use of Polygenic Risk Scores in Breast Cancer Risk Prediction

13 Mar 2024
Venue: Metro Toronto Convention Center
Meeting Room: 714/16
Cancer Genetics and Therapeutics
  • Accredited:
    • Accredited
  • Primary Categories:
    • Cancer
  • Secondary Categories:
    • Cancer
  • Level of Learner:
    • Basic
Less than 10% of women with a family history of breast cancer are found to carry a pathogenic or likely pathogenic variant in a breast cancer susceptibility gene. Studies have shown that a substantial amount of heritability is explained by common variants that have individually modest risk of breast cancer but that, in aggregate, can dramatically increase or decrease risk. Breast cancer polygenic risk scores (PRSs) aim to capture this risk, providing important information about whether patients are at risk levels appropriate for guidelines-supported surveillance (such as yearly MRI) and prevention (such as risk-reducing medication).

Selected breast cancer PRSs have been shown to predict risk of breast cancer more accurately than traditional models of risk assessment that are based mainly on clinical factors (e.g., Tyrer-Cuzick). Evidence supports the use of PRSs in tailoring breast cancer surveillance and prevention measures. However, there has been widespread opposition to clinical implementation of PRSs. This opposition likely stems from the availability of PRSs with uncertain clinical value, the lack of accuracy in some PRSs for those of non-European ancestry, and, in some cases, their ethically dubious use. A lack of understanding about what PRSs are, how they are developed and validated, and current evidence that may support their use in selected clinical settings may also contribute to concerns about clinical implementation. The ACMG recently weighed in on the use of PRSs, stating in a Points to Consider document that it advocates against clinical implementation of PRS testing unless the provider and patient have a clear understanding of the limitations of the testing and applicability to the specific patient, including how the results will be used to guide evidence-based clinical care.

Learning Objectives

  1. Describe the function of a breast cancer polygenic risk score
  2. Describe how polygenic risk scores are developed and validated
  3. Discuss the current state of the evidence on breast cancer risk stratification by polygenic risk scores
  4. Identify examples of clinical implementation of breast cancer polygenic risk scores


  • Aya Abu-el-haija, MD, FACMG
  • Aya Abu-el-haija, MD, FACMG
    Introduction to session and description of clinical potential of polygenic risk scores in breast cancer
    1:30 PM – 1:50 PM
  • Jacques Simard, PhD
    How are Breast Cancer Polygenic Risk Scores Developed and Validated?
    1:50 PM – 2:10 PM
  • Sandhya Pruthi, MD
    Assessing the Evidence: Potential of Polygenic Risk Scores in Personalizing Breast Cancer Risk
    2:10 PM – 2:30 PM
  • Julie O. Culver, MS, LCGC
    Clinical Implementation of a Breast Cancer Polygenic Risk Score
    2:30 PM – 2:50 PM
  • Panel Discussion
    Panel Discussion and Q&A
    2:50 PM – 3:10 PM