Polygenic Risk Scores in Breast Cancer

  • Lida A. Mina
  • Banu ArunEmail author
Risk and Prevention (ME Wood, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Risk and Prevention


Purpose of Review

Breast cancer is a complex disease that is fueled by genetic as well as non-genetic factors. As data risk estimates become better, stratifying a woman’s risk for breast cancer can lead to better prevention strategies. The purpose of this review is to introduce the polygenic risk score (PRS) and shed light on its clinical applications as well as shortcomings in the field of breast cancer prevention.

Recent Findings

A PRS combines relevant single-nucleotide polypeptides (SNPs) and generates an estimated risk of a specific cancer. It has the ability of questioning the whole genome and incorporating the added benefit of an individualized assessment. The PRS has become a part of the risk assessment evaluation without being officially approved.


The benefit of the PRS can be substantial and holds the promise of improved breast cancer prevention. However, more studies are needed to justify its routine use in our clinics.

Trial Registration



Breast cancer Single nucleotide polymorphism Polygenic risk score Risk models Genetic testing Tyrer-Cuzick 


Compliance with Ethical Standards

Conflict of Interest

Banu Arun reports contributing research support to and acting as a non-paid steering committee member for BROCADE trial with Abbvie; personal fees from and contributing research support to AstraZeneca; and contributing research support to PharmaMar and Invitae outside the submitted work. Lida Mina declares no conflicts of interest relevant to this manuscript.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Banner MD Anderson Cancer CenterGilbertUSA
  2. 2.Breast Medical Oncology, Clinical Cancer GeneticsUniversity of Texas MD Anderson Cancer CenterHoustonUSA

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