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Genetic Variability and Risk for Basal Cell Carcinoma in Men and Women

By: Cordi Craig
Posted: Tuesday, January 14, 2020

Polygenic risk scores are significantly associated with the risk of basal cell carcinoma, and the incidence of basal cell carcinoma appears to be higher among men than women; however, according to Michelle R. Roberts, PhD, of Massachusetts General Hospital, Boston, and colleagues, sex-stratified polygenic risk scores have not been previously reported. Findings from their study suggest that polygenic risk scores may be a valuable tool for clinicians to determine risk stratification among patients with basal cell carcinoma. The study was published in the Journal of Investigative Dermatology.

Using 29 published single-nucleotide polymorphisms, the research team derived a polygenic risk score and estimated the relative risk distribution between men and women. The investigators sought to quantify how genetic variability and the risk of basal cell carcinoma varied by sex.

According to the results, the relative risk of cancer increased with higher percentiles of polygenic risk score. The risk of developing basal cell carcinoma appeared to be much higher for men than for women. Among men, the estimated risk of cancer is twice the average population risk, at the 88th percentile. As for women, this increased risk of cancer occurs at the 99th percentile. 

“Polygenic risk scores may be clinically useful tools for risk stratification, particularly in combination with other known risk factors for basal cell carcinoma development,” the researchers concluded.

Disclosure: For full disclosures of the study authors, visit

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