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Polygenic Score Complements Family History and Lynch Syndrome Genes for Predicting Colorectal Cancer Risk.

Talia Y Helfand1, Jun Wei1, Ashley J Mulford2

  • 1Program for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, IL.

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Summary
This summary is machine-generated.

Polygenic scores (PGSs) enhance colorectal cancer (CRC) risk prediction by complementing family history (FH) and pathogenic variants (PVs) in Lynch syndrome genes. This combined approach improves predictive accuracy across diverse populations.

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Area of Science:

  • Genetics and Genomics
  • Cancer Epidemiology
  • Risk Prediction Modeling

Background:

  • Family history (FH) and pathogenic variants (PVs) in Lynch syndrome (LS) genes are established risk factors for colorectal cancer (CRC).
  • The predictive utility of polygenic scores (PGSs) for CRC risk, particularly in conjunction with traditional risk factors, requires further investigation.

Purpose of the Study:

  • To evaluate whether newly published polygenic scores (PGSs) improve colorectal cancer (CRC) risk prediction.
  • To assess the combined predictive performance of PGSs with family history (FH) and pathogenic variants (PVs) in Lynch syndrome (LS) genes.

Main Methods:

  • Investigated associations of CRC risk with FH, PVs in LS genes (MSH2, MLH1, MSH6, PMS2), and PGS using population attributable risk percentage (PAR%) and Cox regression in the UK Biobank (UKB).
  • Assessed model performance using Concordance Index (C-index) in UKB and validated findings in the Genomic Health Initiative (GHI) cohort, which includes diverse ancestry populations.

Main Results:

  • In UKB, PGS, FH, and PVs were present in 18.99%, 11.43%, and 0.42% of participants, respectively, with corresponding PAR% of 29.97%, 6.27%, and 1.25%.
  • Each genetic factor independently predicted CRC risk (P < .001). Significant interactions were found between PVs and FH (P < .001), and PVs and PGS (P = .04).
  • The combined genetic model demonstrated a significantly higher C-index (0.677) compared to models using PVs (0.573), FH (0.578), or PGS (0.669) alone (P < .001), with validation across ancestries in GHI.

Conclusions:

  • Polygenic scores (PGSs) complement family history (FH) and pathogenic variants (PVs) in Lynch syndrome (LS) genes for colorectal cancer (CRC) risk prediction.
  • The integration of PGSs enhances prediction performance beyond traditional genetic factors, demonstrating utility across diverse ancestral populations.