ArticleJournal for immunotherapy of cancer2026
Predicting immune-related thyroiditis using polygenic risk scores in patients with advanced melanoma.
Article in Journal for immunotherapy of cancer, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundInherited genetic variation may impact patient response and risk of toxicity following immune checkpoint inhibitor (ICI) therapy.
methodsWe conducted an agnostic genome-wide analysis study for inherited genetic variants that may predict thyroiditis in patients with melanoma treated with ipilimumab and investigated Polygenic Risk Scores (PRSs) previously reported to be associated with thyroid disease. Germline DNA from 744 participants in a phase 3 adjuvant trial was analyzed following genome-wide genotyping.
resultsAn agnostic genome-wide cohort-level analysis identified top associated single nucleotide polymorphisms (SNPs), and a custom 10-SNP PRS was significantly associated with thyroiditis risk and severity. Among the SNPs identified, five mapped to intronic, four intergenic and one exonic regions. The latter was the lead SNP and mapped to
conclusionsThese findings indicate that inherited genetic background contributes to thyroid immune toxicity risk following ICI and support PRS-based approaches for risk-adapted monitoring during immunotherapy.
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