Mar 19, 2020 - Research

New Genetic Research on Skin Cancer


In the largest genetic study of its kind, researchers at Indiana University have identified new genetic associations with squamous cell skin cancer.

The study, involving data from more than 680,000 individuals, including 20,000 people with squamous cell carcinoma, identified new genetic variants associated with the condition.

The study was a meta-analysis, meaning it included data from many different studies, including data from about 280,000 23andMe customers who consented to participate in research.

Skin Pigmentation

While confirming previous findings that genes associated with skin pigmentation are associated with squamous cell cancers, the study also found some additional genes that are associated with cancer progression and immune response, among other things.

The study identified eight new genetic variants associated with squamous cell cancer, bringing the total known variants associated with this type of non-melanoma skin cancer to 22.

“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 that are specific for squamous cell carcinoma,” said Jiali Han, Ph. D, the lead author of the paper, and a professor and researcher at Indiana University’s School of Medicine.


Squamous cells and basal cells are also known as non-melanoma skin cancers. Both usually respond to treatment and rarely spread to other parts of the body, according to the National Cancer Institute. Melanoma is more aggressive, however, and can spread to other parts of the body if it’s not diagnosed early. Having fair skin, freckles, blue eyes, and brown hair are also risk factors for squamous cell skin cancer.

The research is published online in Nature Communications.


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