George Kumar, Senior Director at AstraZeneca, shared a post on LinkedIn:
“Beyond Pigmentation: What Moles (Nevi) Can Teach Us About Melanoma Risk
A better understanding of the biology of moles is key to unlocking the mysteries of melanoma. A massive new meta-analysis—analyzing over 85,000 individuals across 14 genome-wide association studies (GWAS)—has just shed new light on the genetic architecture of nevi.
Here are the key takeaways from the study:
- Massive Genetic Discovery: Researchers identified 29 nevus-associated loci—24 of which are brand new—along with 255 candidate genes.
- It’s About Immunity, Not Just Pigment: The findings highlight the critical role of immune response regulation, specifically pointing to the SIKE1 gene. Surprisingly, gene-set analyses prioritized immune pathways and non-pigmented cancers (like breast, prostate, and glioma), proving that melanoma risk goes far beyond skin pigmentation.
- The Gender Gap: While females generally have a higher total-body mole count than males, their genetic architecture is remarkably similar. This suggests the difference in mole counts is likely driven by environmental and behavioral factors, rather than just DNA.
- Improving Clinical Prediction: A newly developed nevus polygenic risk score explains 5% of the variance in mole count. This offers a promising new tool to significantly enhance future melanoma risk prediction models.
These findings represent a major step forward in dermatology and oncology, reminding us that the biological pathways underlying skin cancer are deeply complex and interconnected with our immune system.”
Title: A large-scale genome-wide association meta-analysis for nevus count provides direct insights into the genetics of melanoma
Authors: G. J. M. Shanika R. Jayasinghe, Gu Zhu, Nirmala Pandeya, Catherine M. Olsen, Nicholas G. Martin, Penelope A. Lind, Sarah E. Medland, Scott D. Gordon, Santiago Diaz-Torres, Gareth Lingham, Samantha S. Y. Lee, Tamar Nijsten, Manfred Kayser, Luba M. Pardo, Grant W. Montgomery, Nicholas K. Hayward, Jane M. Palmer, David J. Hunter, Jiali Han, Alex W. Hewitt, Mario Falchi, D. Timothy Bishop, Kevin M. Brown, Veronique Bataille, Matthew H. Law
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