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Original Article Melanocytes/Melanoma
Open Access
Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies
Journal of Investigative Dermatology
Vol. 138Issue 12p2617–2624Published online: June 8, 2018
- Anne E. Cust
- Martin Drummond
- Peter A. Kanetsky
- Australian Melanoma Family Study Investigators
- Leeds Case-Control Study Investigators
- Alisa M. Goldstein
- and others
Cited in Scopus: 39
It is unclear to what degree genomic and traditional (phenotypic and environmental) risk factors overlap in their prediction of melanoma risk. We evaluated the incremental contribution of common genomic variants (in pigmentation, nevus, and other pathways) and their overlap with traditional risk factors, using data from two population-based case-control studies from Australia (n = 1,035) and the United Kingdom (n = 1,460) that used the same questionnaires. Polygenic risk scores were derived from 21 gene regions associated with melanoma and odds ratios from published meta-analyses.