Replication and Predictive Value of SNPs Associated with Melanoma and Pigmentation Traits in a Southern European Case-Control Study

Authors: Irene Stefanaki, Orestis A. Panagiotou, Elisavet Kodela, Helen Gogas, Katerina P. Kypreou, Foteini Chatzinasiou, Vasiliki Nikolaou, Michaela Plaka, Iro Kalfa, Christina Antoniou, John P. A. Ioannidis, Evangelos Evangelou, Alexander J. Stratigos

DOI: 10.1371/journal.pone.0055712

Abstract Summary

This Greek study validated genetic variants linked to melanoma susceptibility by testing 34 SNPs in 284 patients and controls. Eight variants showed significantly different frequencies compared to European populations, suggesting distinct genetic risk profiles. The strongest associations involved CLPTM1L, SLC45A2, and MC1R genes. However, adding genetic markers to clinical risk models didn’t significantly improve melanoma prediction beyond traditional factors.

Why Brain? 🧠

Study validates genetic markers for melanoma risk in Greeks, finding different susceptibility patterns than Northern Europeans, though adding genetic testing to clinical assessment didn’t improve prediction.

License: CC BY.

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