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Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk.

Iris Kramer1, Maartje J Hooning2, Nasim Mavaddat3

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Summary
This summary is machine-generated.

A polygenic risk score (PRS) using 313 variants (PRS313) effectively predicts contralateral breast cancer (CBC) risk in women. Higher PRS313 indicates increased risk, aiding in personalized surveillance and treatment strategies.

Keywords:
contralateral breast cancerepidemiologygeneticpolygenic risk score

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Area of Science:

  • Genetics and Genomics
  • Oncology
  • Epidemiology

Background:

  • Polygenic risk scores (PRSs) are established for primary breast cancer risk stratification.
  • Contralateral breast cancer (CBC) represents a significant concern for breast cancer survivors.

Purpose of the Study:

  • To evaluate the association between a 313-variant polygenic risk score (PRS313) and the risk of developing contralateral breast cancer (CBC).
  • To assess the PRS313's utility in predicting CBC risk across diverse populations and its independence from other risk factors.

Main Methods:

  • Utilized Cox regression for European ancestry (N=56,068) and logistic regression for Asian ancestry (N=13,473) to analyze metachronous CBC risk.
  • Quantified risk per standard deviation (SD) of PRS313 and calculated absolute lifetime risks, accounting for competing risks.
  • Assessed PRS313 interactions with clinical and pathological factors and evaluated model performance using the C-index.

Main Results:

  • Higher PRS313 was significantly associated with increased CBC risk in both European (HR per SD=1.25) and Asian (OR per SD=1.15) cohorts.
  • Absolute lifetime CBC risks varied substantially by PRS313 percentile (e.g., 10th percentile: 12.4%, 90th percentile: 20.5% in Europeans).
  • PRS313 demonstrated independence from individual characteristics, primary tumor features, and treatment, with a C-index of 0.563 for risk prediction.

Conclusions:

  • PRS313 is an independent predictor of contralateral breast cancer risk.
  • Incorporating PRS313 into risk models can enhance the stratification of women for optimized surveillance and treatment.
  • This genetic risk score offers a valuable tool for personalized breast cancer management post-diagnosis.