ArticleOncotarget2016
Clustered somatic mutations are frequent in transcription factor binding motifs within proximal promoter regions in melanoma and other cutaneous malignancies.
Article in Oncotarget, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 24 citations in OpenAlex.
- Hidden secrets of the cancer genome: unlocking the impact of non-coding mutations in gene regulatory elements.Cellular and molecular life sciences : CMLS · 2024Review
- Utility of UV Signature Mutations in the Diagnostic Assessment of Metastatic Head and Neck Carcinomas of Unknown Primary.Head and neck pathology · 2024Article
- Cyclobutane Pyrimidine Dimer Hyperhotspots as Sensitive Indicators of Keratinocyte UV ExposurePhotochemistry and photobiology · 2022Article
- Non-coding driver mutations in human cancer.Nature reviews. Cancer · 2021Review
- Article
- Genomic sites hypersensitive to ultraviolet radiation.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Intragenomic variability and extended sequence patterns in the mutational signature of ultraviolet light.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Recurrent Noncoding Mutations in Skin Cancers: UV Damage Susceptibility or Repair Inhibition as Primary Driver?BioEssays : news and reviews in molecular, cellular and developmental biology · 2019Review
- Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers.PLoS genetics · 2018Article
- Roles of UVA radiation and DNA damage responses in melanoma pathogenesis.Environmental and molecular mutagenesis · 2018Review
- Dissecting the sources of gene expression variation in a pan-cancer analysis identifies novel regulatory mutations.Nucleic acids research · 2018Article
- Cell death-based treatments of melanoma:conventional treatments and new therapeutic strategies.Cell death & disease · 2018Review
- Recurrent promoter mutations in melanoma are defined by an extended context-specific mutational signature.PLoS genetics · 2017Article
- Integrated analysis of promoter mutation, methylation and expression of AKT1 gene in Chinese breast cancer patients.PloS one · 2017Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Most cancer DNA sequencing studies have prioritized recurrent non-synonymous coding mutations in order to identify novel cancer-related mutations. Although attention is increasingly being paid to mutations in non-coding regions, standard approaches to identifying significant mutations may not be appropriate and there has been limited analysis of mutational clusters in functionally annotated non-coding regions. We sought to identify clustered somatic mutations (hotspot regions across samples) in functionally annotated regions in melanoma and other cutaneous malignancies (cutaneous squamous cell carcinoma, basal cell carcinoma and Merkel cell carcinoma). Sliding window analyses revealed numerous recurrent clustered hotspot mutations in proximal promoters, with some specific clusters present in up to 25% of cases. Mutations in melanoma were clustered within ETS and Sp1 transcription factor binding motifs, had a UV signature and were identified in other cutaneous malignancies. Clinicopathologic correlation and mutation analysis support a causal role for chronic UV irradiation generating somatic mutations in transcription factor binding motifs of proximal promoters.
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