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Researchers Identify New Genomic Areas Potentially Linked to Increased Skin Cancer Risk

By: Jocelyn Solis-Moreira, MS
Posted: Tuesday, March 3, 2020

The total number of risk loci associated with squamous cell skin cancer has increased to 22, according to study findings published in Nature Communications. Jiali Han, PhD, of the Indiana University Melvin and Bren Simon Cancer Center, and colleagues have discovered eight novel genomic regions linked to an increased susceptibility to squamous cell carcinoma. They also identified molecular pathways potentially involved in modulating expression of these genes.

“We can certainly say there is some genetic overlap between squamous cell carcinoma, basal cell carcinoma, and melanoma—the three major types of skin cancer—but we also found some genes are specific for squamous cell carcinoma,” the researchers stated in an Indiana University press release.

The study was conducted through a genome-wide meta-analysis using 19,149 squamous cell skin cancer cases and 680,049 controls from the United States and Europe. The meta-analysis confirmed all 14 previously identified loci sites associated with cutaneous squamous cell skin cancer along with the 8 new sites. Pigmentation phenotypic traits were associated with 9 of 22 susceptibility loci sites. Although fair skin and sun exposure are well-known risk factors for squamous cell carcinoma, physical genomic features such as freckles, blue eyes, and brown hair were also linked with risk loci. Dr. Han and colleagues plan to expand their study results by increasing the population sample size to locate more risk loci.

Disclosure: For full disclosures of the study authors, visit nature.com.



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