Four Single Nucleotide Polymorphisms May Predict Non-Melanoma Skin Cancer Risk

Investigators sought to determine whether the presence of single nucleotide polymorphisms is a risk factor for non-melanoma skin cancer.

A new study suggests that Chr1, PAD16, PIGU, TDG are 4 single nucleotide polymorphisms (SNPs) that may be predictive of non-melanoma skin cancer (NMSC) risk. The findings from this study were published in the Journal of Drugs and Dermatology.

Patients with NMSC who were seen in a southern California surgical practice were recruited (n=19) for the study. Another 19 age-matched spouses with no skin cancer history were also included in the study. The researchers obtained participants’ medical history and patients provided information regarding propensity to burn in the sun, race, smoking history, familial skin cancer history, and number of years spent living in California. Each participant also provided a buccal swab sample and genomic DNA was extracted from cheek swabs. A total of 7 SNPs were identified, including Chr1, MC1R, TP53, PADI6, PIGU, TDG, and XRCC1.

Of the 7 total SNPs, 4 had an “as expected” and positive trend toward association with NMSC in this cohort, including Chr1 (odds ratio [OR] 0.81; 95% CI, 0.32-2.01; P =.64), PADI6 (OR 0.62; 95% CI, 0.19-1.88; P =.4), PIGU (OR 0.34; 95% CI, 0.05-1.46; P =.19), and TDG (OR 0.77; 95% CI, 0.18-3.18; P =.72). No conclusive associations were found for MC1R (monomorphic P value), TP53 (OR 1; 95% CI, 0.4-2.48; P =1), or XRCC1 (OR 1.08; 95% CI, 0.5-2.33; P =.85).

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Study limitations include the small sample size, as well as the inclusion of only patients from southern California, which may limit the generalizability of the results.

“Our findings provide support for continued study of what the impact of these polymorphisms have on the development of skin cancer in the population,” the researchers concluded.

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Moy L, Lyons AB, Fox W, et al. Non-invasive buccal swab gene testing for skin cancer risk. J Drugs Dermatol. 2019;18(5):448-453.