This paper identifies 116 risk loci for melanoma through GWAS, links susceptibility to immunity and Wnt signaling, and develops a PRS improving risk prediction.

medRxiv · Oct 15, 2026 · PreprintGenetic & Genomic Medicine

Large distant deletion disrupts CDKN2A enhancer and predisposes to melanoma

Peter A. Johansson, Kelly M. Brooks, Jane M. Palmer, Vaishnavi Nathan, Mai Xu, Jessica L. Scales, Rebecca Hennessey, E. Holland, Mark Harland, S Hutchison, Pui Ying Chan, Aravind Sankar, Sophie Papiernik, Abigail Dennis, Rohit Thakur, , Antonia L. Pritchard

The paper identifies a large distant deletion in DMRTA1 upstream of CDKN2A that predisposes to melanoma by disrupting regulatory sequences and reducing p16 expression.

medRxiv · May 18, 2026 · PreprintGenetic & Genomic Medicine

A large-scale genome-wide association meta-analysis for nevus count provides direct insights into the genetics of melanoma

G J M Shanika R Jayasinghe, Gu Zhu, Nirmala Pandeya, Catherine M. Olsen, Nicholas G. Martin, Penelope A. Lind, Sarah Elizabeth Medland, Scott D. Gordon, Santiago Díaz‐Torres, Gareth Lingham, Samantha S Y Lee, Tamar E. C. Nijsten, Manfred Kayser, Luba Milena Pardo, Grant W. Montgomery, , Matthew H. Law

This study conducts a large-scale GWAS meta-analysis of nevus count, identifying 29 new loci and highlighting immune-related pathways relevant to melanoma risk.

Nature Communications · Mar 10, 2026Peer-reviewedGenetic & Genomic Medicine