Polygenic Risk Scores in Breast Cancer
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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.
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.
KeywordsBreast 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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