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Genetics + Environment: Evidence of Synergy in Increasing Skin Cancer Risk

By: Celeste L. Dixon
Posted: Friday, August 9, 2019

Study results that are “the first…to demonstrate that genetic predisposition and environmental insults could act together to increase the risk of developing skin cancer” appeared in the Journal of Translational Medicine, highlighting the authors’ work with germline E2F1 copy number variations in patients with melanoma. Because heat stress has been considered a potential contributing factor to skin cancer, the team also investigated its effect on E2F1 expression.

Corresponding author Carlo Foresta, MD, of the University of Padua, Italy, and co-investigators noted that germline copy number variations have been previously associated with increased susceptibility to different types of cancer. They measured E2F1 copy number variations in genomic DNA isolated from the blood of 552 patients diagnosed with melanoma and 520 healthy subjects using TaqMan Copy Number Assays. In addition, they evaluated E2F1 mRNA expression in the melanoma cell line, SK MEL 267, before and after exposure to heat stress.

Dr. Foresta and colleagues found that 9 of 552 patients (1.6%) diagnosed with melanoma harbored frequently altered germline E2F1 copies, whereas none of the healthy subjects did. “The difference among the two groups was statistically significant (P = .004),” they wrote. “Furthermore, we found that heat exposure alone can significantly induce E2F1 expression.”

Thus, they concluded that germline E2F1 gains could contribute to melanoma risk, possibly especially when exposed to heat. Additional research would be necessary, they noted, to determine whether the additional E2F1 copies in patients with melanoma were acquired de novo or inherited.

Disclosure: The study authors reported no conflicts of interest.



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