World's largest genetic study of 'moliness' helps unravel mysteries of melanoma
QIMR Berghofer scientists have uncovered hundreds of genes that play a role in the growth of both moles and melanoma, in a discovery that could lead to new ways of preventing and treating the deadliest form of skin cancer.
A genome‑wide association meta‑analysis of over 85,000 European‑ancestry participants identified 24 loci influencing mole count, all but one of which are also associated with melanoma. The study prioritised more than 250 candidate genes, including SIKE1, and highlighted immune‑regulation and cell‑proliferation pathways that may contribute to melanocyte overgrowth and melanoma development. A polygenic risk score for mole count (moliness) was derived, offering a potential tool for improving melanoma screening and prevention.
Melanoma remains the deadliest form of skin cancer, and current prevention focuses primarily on sun protection and immunotherapies, which fail in many advanced cases. Identifying novel genetic drivers and biological pathways expands the repertoire of potential therapeutic targets and could enable earlier identification of high‑risk individuals, guiding surveillance and the development of drugs beyond sun protection.
Evidence level: Korai humán adat. Kis vagy feltáró emberi adat.
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