Litcius/Paper detail

Ultradeep sequencing differentiates patterns of skin clonal mutations associated with sun-exposure status and skin cancer burden

Lei Wei, Sean R. Christensen, Megan E. Fitzgerald, James H. Graham, Nicholas Hutson, Chi Zhang, Ziyun Huang, Qiang Hu, Fenglin Zhan, Jun Xie, Jianmin Zhang, Song Liu, Éva Remenyik, Emese Gellén, Oscar R. Colegio, Michael J. Bax, Jinhui Xu, Haifan Lin, Wendy J. Huss, Barbara A. Foster, György Paragh

2021Science Advances57 citationsDOIOpen Access PDF

Abstract

where mutations were significantly associated with UV exposure. In the normal skin from patients with cutaneous squamous cell carcinoma, we found that the cancer burden was associated with the UV-induced mutations, with the difference mostly conferred by the low-frequency CMs. These findings provide previously unknown information on UV's carcinogenic effect and pave the road for future development of quantitative assessment of subclinical UV damage and skin cancer risk.

Topics & Concepts

Skin cancerSun exposureBiologyDNA sequencingMedicineCancerGeneticsDermatologyGeneCancer Genomics and DiagnosticsDNA Repair MechanismsSingle-cell and spatial transcriptomics