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Relationship Between Somatic Mutations and Risk of Skin Cancer Under Investigation

By: Joshua D. Madera, MD
Posted: Wednesday, April 17, 2024

The presence of somatic mutations in patients with healthy-appearing, sun-exposed skin may be positively associated with an increased risk of developing skin cancer, according to a study presented at the 2024 American Academy of Dermatology Association (AAD) Annual Meeting (Poster 52828). Additional investigative efforts are warranted to quantify the efficacy of the DNA-Skin Cancer Assessment of Risk (DNA-SCAR) as a clinical utility tool in this patient population, suggested Maral Skelsey, MD, of Georgetown University Medical School, Washington, DC, and colleagues.

A total of 1,038 patients with healthy-appearing, sun-exposed skin were included in the study. Using the quantity of somatic mutations and other well-established risk factors of skin cancer, the investigators created the DNA-SCAR model. This model enabled the researchers to predict the patient’s personal history of skin cancer from the person’s age, skin tone, number of somatic mutations, and family history of skin cancer.

The study authors reported the presence of at least one mutation in 39% of subjects. The presence of mutations was positively associated with increased age, a personal or family history of skin cancer, and a lighter skin tone. In addition, the DNA-SCAR model demonstrated an improved performance when the number of mutations was incorporated into the model (odds ratio = 1.3). Furthermore, using the DNA-SCAR model revealed a significantly increased risk of skin cancer for subjects with both light and dark skin tones. Moreover, the risk of skin cancer in White, non-Hispanic subjects was equivalent to the established U.S. prevalence.

Disclosure: For full disclosures of the study authors, visit eposters.aad.org.


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