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Genome-wide association studies and polygenic risk scores for skin cancer: Clinically useful yet?

British Journal of Dermatology Mar 29, 2019

Roberts MR, et al. - For skin cancers like melanoma, cutaneous squamous cell carcinoma (cSCC), and basal cell carcinoma (BCC), investigators reviewed the clinical usefulness of genome-wide association studies (GWAS) as well as polygenic risk scores (PRS). They summarized the results from 21 GWAS (11 melanoma, 3 cSCC, 7 BCC) and 11 PRS studies and found an overlap of six loci in pigmentation genes (ASIP/RALY, IRF4, MC1R, OCA2, SLC45A2, and TYR) between the aforementioned three cancers. They reported no sharing of loci between cSCC and melanoma. An approximate increase of 2-to-3-fold in the risk and modest improvements in risk prediction (2-7% increases) with PRS for melanoma. They recorded an association of PRS with 2-fold and 3-fold increases in risk of cSCC and BCC, respectively, with small improvements (2% increase) in predictive value.

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