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

British Journal of Dermatology Jul 11, 2019

Roberts MR, et al. - Via PubMed and the National Human Genome Research Institute–European Bioinformatics Institute genome-wide association studies (GWAS) catalogue, researchers found and analyzed published GWAS and polygenic risk scores (PRS) studies for melanoma, cutaneous squamous cell carcinoma (cSCC) and basal cell carcinoma (BCC) to review their potential clinical usefulness. Results are summarized from 21 GWAS (11 melanoma, 3 cSCC, 7 BCC) and 11 PRS studies. Findings suggested that PRS can deliver minor (2% increase), but potentially meaningful, improvements to the prediction of risk. To clarify the potential utility of PRS in cutaneous carcinomas, further study is required. Translation to clinical utility will require well-powered validation studies that include known risk factors in assessing PRS as screening tools.

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