ArticleCancer immunology, immunotherapy : CII2019
Autoimmune genetic risk variants as germline biomarkers of response to melanoma immune-checkpoint inhibition.
Article in Cancer immunology, immunotherapy : CII, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed.
- A meta-analysis based on propensity analysis studies comparing neoadjuvant immunochemotherapy and neoadjuvant chemoradiotherapy for esophageal squamous cell carcinoma.Discover oncology · 2025Article
- Genetic Landscape of Familial Melanoma.Genes · 2025Review
- Inherited mitochondrial genetics as a predictor of immune checkpoint inhibition efficacy in melanoma.Nature medicine · 2025Article
- Mapping the genetic landscape establishing a tumor immune microenvironment favorable for anti-PD-1 response.Cell reports · 2025Article
- Advances in the understanding and therapeutic manipulation of cancer immune responsiveness: a Society for Immunotherapy of Cancer (SITC) review.Journal for immunotherapy of cancer · 2025Review
- Lag3 and PD-1 pathways preferentially regulate NFAT-dependent TCR signalling programmes during early CD4Immunotherapy advances · 2025Article
- Mutations Associated With High-Grade irAEs in NSCLC Patients Receiving Immunotherapies.Clinical lung cancer · 2024Article
- PCCA variant rs16957301 is a novel AKI risk genotype-specific for patients who receive ICI treatment: Real-world evidence from all of us cohort.European journal of cancer (Oxford, England : 1990) · 2024Article
- Dendritic cell-intrinsic PTPN22 negatively regulates antitumor immunity and impacts anti-PD-L1 efficacy.Journal for immunotherapy of cancer · 2024Article
- Germline polygenic risk scores are associated with immune gene expression signature and immune cell infiltration in breast cancer.American journal of human genetics · 2024Article
- Exploration of Germline Correlates and Risk of Immune-Related Adverse Events in Advanced Cancer Patients Treated with Immune Checkpoint Inhibitors.Current oncology (Toronto, Ont.) · 2024Article
- Decoupling FcRn and tumor contributions to elevated immune checkpoint inhibitor clearance in cancer cachexia.Pharmacological research · 2024Article
- Kinase Insert Domain Receptor Q472H Pathogenic Germline Variant Impacts Melanoma Tumor Growth and Patient Treatment Outcomes.Cancers · 2023Article
- Germline immunomodulatory expression quantitative trait loci (ieQTLs) associated with immune-related toxicity from checkpoint inhibition.European journal of cancer (Oxford, England : 1990) · 2023Article
- Autoimmune alleles at the major histocompatibility locus modify melanoma susceptibility.American journal of human genetics · 2023Article
- Preconditioning of the immune system modulates the response of papillary thyroid cancer to immune checkpoint inhibitors.Journal for immunotherapy of cancer · 2022Article
- The Immune Landscape of Papillary Thyroid Cancer in the Context of Autoimmune Thyroiditis.Cancers · 2022Review
- 'Know thyself' - host factors influencing cancer response to immune checkpoint inhibitors.The Journal of pathology · 2022Review
- Biomarkers of response to PD-1 pathway blockade.British journal of cancer · 2022Review
- Overview of Research on Germline Genetic Variation in Immune Genes and Cancer Outcomes.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
Corrections and comments
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Authors and funding
15 authors.
Funding
Abstract
Immune-checkpoint inhibition (ICI) treatments improve outcomes for metastatic melanoma; however, > 60% of treated patients do not respond to ICI. Current biomarkers do not reliably explain ICI resistance. Given the link between ICI and autoimmunity, we investigated if genetic susceptibility to autoimmunity modulates ICI efficacy. In 436 patients with metastatic melanoma receiving single line ICI or combination treatment, we tested 25 SNPs, associated with > 2 autoimmune diseases in recent genome-wide association studies, for modulation of ICI efficacy. We found that rs17388568-a risk variant for allergy, colitis and type 1 diabetes-was associated with increased anti-PD-1 response, with significance surpassing multiple testing adjustments (OR 0.26; 95% CI 0.12-0.53; p = 0.0002). This variant maps to a locus of established immune-related genes: IL2 and IL21. Our study provides first evidence that autoimmune genetic susceptibility may modulate ICI efficacy, suggesting that systematic testing of autoimmune risk loci could reveal personalized biomarkers of ICI response.
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