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Implementing the Risk Stratification and Clinical Management of Breast Cancer Families Using Polygenic Risk Score

Barbara Rizzacasa1, Vanessa Nicolì1, Chantal Tancredi1

  • 1Department of Biomedicine and Prevention, University of Rome "Tor Vergata", 00133 Rome, Italy.

Journal of Personalized Medicine
|October 25, 2024
PubMed
Summary
This summary is machine-generated.

Polygenic risk scores (PRS) help stratify breast cancer (BC) risk in families. PRS improves risk assessment for non-carriers of high-risk genes and complements variant status in moderate-risk families.

Keywords:
ATMBRCA1BRCA2PALB2PRSbreast cancerpolygenic risk score

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Area of Science:

  • Genetics and Genomics
  • Oncology
  • Personalized Medicine

Background:

  • Accurate identification of women at high risk for breast cancer (BC) is essential for tailoring screening protocols.
  • Genetic factors, including pathogenic/likely pathogenic variants (PVs/LPVs) in susceptibility genes and a polygenic background (polygenic risk score, PRS), contribute to BC risk.
  • PRS may modify BC risk in individuals within families with known genetic predispositions.

Purpose of the Study:

  • To evaluate the utility of PRS in assessing breast cancer (BC) risk within high- and moderate-risk families.
  • To determine how PRS impacts risk stratification for both carriers and non-carriers of known BC susceptibility variants.

Main Methods:

  • Retrospective pilot study involving women from high-risk (BRCA1/BRCA2) and moderate-risk (PALB2, ATM) breast cancer families.
  • Evaluation of a polygenic risk score (PRS) derived from 577,113 BC-associated variants.
  • Calculation of adjusted lifetime BC risk using the BOADICEA model, considering PVs/LPVs carrier status and PRS.

Main Results:

  • In BRCA1/BRCA2 carriers, PVs/LPVs were primary risk stratifiers, whereas PRS enhanced risk estimation for non-carriers.
  • For PALB2 and ATM families, the combination of PRS and PV/LPV carrier status provided a more comprehensive lifetime risk assessment.
  • PRS demonstrated value in quantifying the genetic familial background for improved individual risk stratification.

Conclusions:

  • Polygenic risk scores (PRS) can quantify the genetic familial component of breast cancer (BC) risk.
  • Integrating PRS with variant carrier status improves individual risk stratification in BC families.
  • These findings support the use of PRS in personalized clinical management strategies for women in BC families.