Mutation signatures in melanocytic nevi reveal characteristics of defective DNA repair

Study ID Alternative Stable ID Type
EGAS00001004274 Other

Study Description

Nevi are common benign melanocytic neoplasms that can be found on any skin location and share many of the genomic hallmarks of melanoma. In our recent report involving whole-exome sequencing of acquired nevi (Stark et al., 2018), ultra-violet radiation (UVR) related somatic mutation signatures (“signature 7”) (Alexandrov et al., 2013) were frequently observed in all lesions that were located on sun-exposed sites. In the study presented herein, we sought to investigate whether an independent Spanish cohort (Valencia, Spain) of minimally sun exposed nevi had genomic features consistent with our previous findings.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
8 matched pair melanocytic nevi Agilent SureSelect Human All Exon V5 plus UTR
Illumina HiSeq 2500 16

Who archives the data?

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