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Massive Study Identifies Genetic Indicators for Skin Cancer Risk

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A massive, two-stage, genome-wide association study of cutaneous squamous cell carcinoma (SCC), totaling 7,404 cases and 292,076 controls, was published in Nature Communications. In it, researchers identified genetic risk indicators for potentially developing this second-most common form of skin cancer.

According to the 23andMe and Stanford University School of Medicine researchers, SCC of the skin is the second most common cutaneous malignancy, behind basal cell carcinoma (BCC). In the United States, a 7-11% lifetime incidence has been reported in Caucasians and an estimated 6,000 deaths are attributed to it annually. 

Fair skin, male gender, UV exposure and prior organ transplants are associated with increased rates of SCC. However, unlike BCC, few genetic variants have previously been linked to SCC risk.

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In this study, eleven significant genetic points were identified, including seven previously confirmed pigmentation-related ones. For example, the predominance for SCC occurs in individuals carrying a specific gene for red hair; in those with a specified predisposition for actinic keratoses, independent of skin pigmentation; in those with a certain genetic variation subjecting them to photosensitivity, tanning, increased risk of BCC and melanoma; and to those with the genetic indicator related to facial pigmented spots, among others. 

Also identified were four genetic indicators related to susceptibility and a metastasis suppressor gene, which is involved in modifying tumor interactions with cell-mediated immunity. A receptor involved in anti-apoptotic (cell death) pathways and melanoma progression was observed, as was a putative "oncogene" with roles in secretion and cellular proliferation.

Taken together, these identifiers provide great insight into the pathogenesis of SCC, not only to aid in its treatment but for consideration in preventive measures. Considering these are merely scientific associations at this point, however, it may be a bit early for the development of sunscreens claiming "redhead" protection.

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