Polygenic Risk Scores in Breast Cancer

Lida A. Mina, Banu Arun

Research output: Contribution to journalReview articlepeer-review

Abstract

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. Summary: 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: NCT03688204.

Original languageEnglish (US)
Pages (from-to)117-122
Number of pages6
JournalCurrent Breast Cancer Reports
Volume11
Issue number3
DOIs
StatePublished - Sep 15 2019

Keywords

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

ASJC Scopus subject areas

  • Oncology

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