No Association Between Polygenic Risk Scores for Cancer and Development of Radiation Therapy Toxicity

Gillian C Barnett*, Sarah L Kerns, Leila Dorling, Laura Fachal, Miguel E Aguado-Barrera, Laura Martínez-Calvo, Harkeran K Jandu, Ceilidh Welsh, Jonathan Tyrer, Charlotte E Coles, Joanne S Haviland, Christopher Parker, Antonio Gómez-Caamaño, Patricia Calvo-Crespo, Paloma Sosa-Fajardo, Neil G Burnet, Holly Summersgill, Adam Webb, Dirk De Ruysscher, Petra SeiboldJenny Chang-Claude, Christopher J Talbot, Tim Rattay, Matthew Parliament, Kim De Ruyck, Barry S Rosenstein, Paul D P Pharoah, Alison M Dunning, Ana Vega, Catharine M L West

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Purpose: Our aim was to test whether updated polygenic risk scores (PRS) for susceptibility to cancer affect risk of radiation therapy toxicity. Methods and Materials: Analyses included 9,717 patients with breast (n=3,078), prostate (n=5,748) or lung (n=891) cancer from Radiogenomics and REQUITE Consortia cohorts. Patients underwent potentially curative radiation therapy and were assessed prospectively for toxicity. Germline genotyping involved genome-wide single nucleotide polymorphism (SNP) arrays with nontyped SNPs imputed. PRS for each cancer were generated by summing literature-identified cancer susceptibility risk alleles: 352 breast, 136 prostate, and 24 lung. Weighted PRS were generated using log odds ratio (ORs) for cancer susceptibility. Standardized total average toxicity (STAT) scores at 2 and 5 years (breast, prostate) or 6 to 12 months (lung) quantified toxicity. Primary analysis tested late STAT, secondary analyses investigated acute STAT, and individual endpoints and SNPs using multivariable regression. Results: Increasing PRS did not increase risk of late toxicity in patients with breast (OR, 1.000; 95% confidence interval [CI], 0.997-1.002), prostate (OR, 0.99; 95% CI, 0.98-1.00; weighted PRS OR, 0.93; 95% CI, 0.83-1.03), or lung (OR, 0.93; 95% CI, 0.87-1.00; weighted PRS OR, 0.68; 95% CI, 0.45-1.03) cancer. Similar results were seen for acute toxicity. Secondary analyses identified rs138944387 associated with breast pain (OR, 3.05; 95% CI, 1.86-5.01; P = 1.09 × 10 –5) and rs17513613 with breast edema (OR, 0.94; 95% CI, 0.92-0.97; P = 1.08 × 10 –5). Conclusions: Patients with increased polygenic predisposition to breast, prostate, or lung cancer can safely undergo radiation therapy with no anticipated excess toxicity risk. Some individual SNPs increase the likelihood of a specific toxicity endpoint, warranting validation in independent cohorts and functional studies to elucidate biologic mechanisms.

Original languageEnglish
Pages (from-to)494-501
Number of pages8
JournalInternational Journal of Radiation Oncology Biology Physics
Volume114
Issue number3
Early online date12 Jul 2022
DOIs
Publication statusPublished - 1 Nov 2022

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