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