ArticleScientific reports2019
Immunomodulatory germline variation associated with the development of multiple primary melanoma (MPM).
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Concurrent Vulvar and Cutaneous Melanoma in a 40-Year-Old Woman: A Rare Case of Multiple Primary Melanomas.Gynecologic oncology reports · 2026Article
- Germline immunomodulatory expression quantitative trait loci (ieQTLs) associated with immune-related toxicity from checkpoint inhibition.European journal of cancer (Oxford, England : 1990) · 2023Article
- Multiple Primary Melanomas: Retrospective Review in a Tertiary Care Hospital.Journal of clinical medicine · 2022Article
- Melanoma susceptibility: an update on genetic and epigenetic findings.International journal of molecular epidemiology and genetics · 2021Review
- Ultra Low-Coverage Whole-Genome Sequencing as an Alternative to Genotyping Arrays in Genome-Wide Association Studies.Frontiers in genetics · 2021Article
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Authors and funding
14 authors.
Funding
Abstract
Multiple primary melanoma (MPM) has been associated with a higher 10-year mortality risk compared to patients with single primary melanoma (SPM). Given that 3-8% of patients with SPM develop additional primary melanomas, new markers predictive of MPM risk are needed. Based on the evidence that the immune system may regulate melanoma progression, we explored whether germline genetic variants controlling the expression of 41 immunomodulatory genes modulate the risk of MPM compared to patients with SPM or healthy controls. By genotyping these 41 variants in 977 melanoma patients, we found that rs2071304, linked to the expression of SPI1, was strongly associated with MPM risk reduction (OR = 0.60; 95% CI = 0.45-0.81; p = 0.0007) when compared to patients with SPM. Furthermore, we showed that rs6695772, a variant affecting expression of BATF3, is also associated with MPM-specific survival (HR = 3.42; 95% CI = 1.57-7.42; p = 0.0019). These findings provide evidence that the genetic variation in immunomodulatory pathways may contribute to the development of secondary primary melanomas and also associates with MPM survival. The study suggests that inherited host immunity may play an important role in MPM development.
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