ArticleScientific reports2020
Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 23 citations in OpenAlex.
- Correlation between ocular tumor distribution and age based on analysis of pathological specimens.American journal of translational research · 2026Article
- The significance of DNA methylation pattern in the etiology of basal cell carcinoma.Archives of dermatological research · 2025Article
- Integrative analysis of the role of theTranslational cancer research · 2024Article
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- Detecting recurrent passenger mutations in melanoma by targeted UV damage sequencing.Nature communications · 2023Article
- Review
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- Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma.Orphanet journal of rare diseases · 2021Article
- Molecular profiling of basal cell carcinomas in young patients.BMC medical genomics · 2021Article
- Review
- Molecular alterations in basal cell carcinoma subtypes.Scientific reports · 2021Article
- Profile of Basal Cell Carcinoma Mutations and Copy Number Alterations - Focus on Gene-Associated Noncoding Variants.Frontiers in oncology · 2021Article
- Basal Cell Carcinoma: From Pathophysiology to Novel Therapeutic Approaches.Biomedicines · 2020Review
- TERT-Regulation and Roles in Cancer Formation.Frontiers in immunology · 2020Review
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Basal cell carcinoma (BCC) represents the most commonly diagnosed human cancer among persons of European ancestry with etiology mainly attributed to sun-exposure. In this study we investigated mutations in coding and flanking regions of PTCH1 and TP53 and noncoding alterations in the TERT and DPH3 promoters in 191 BCC tumors. In addition, we measured CpG methylation within the TERT hypermethylated oncological region (THOR) and transcription levels of the reverse transcriptase subunit. We observed mutations in PTCH1 in 58.6% and TP53 in 31.4% of the tumors. Noncoding mutations in TERT and DPH3 promoters were detected in 59.2% and 38.2% of the tumors, respectively. We observed a statistically significant co-occurrence of mutations at the four investigated loci. While PTCH1 mutations tended to associate with decreased patient age at diagnosis; TP53 mutations were associated with light skin color and increased number of nevi; TERT and DPH3 promoter with history of cutaneous neoplasms in BCC patients. Increased reverse transcriptase subunit expression was observed in tumors with TERT promoter mutations and not with THOR methylation. Our study signifies, in addition to the protein altering mutations in the PTCH1 and TP53 genes, the importance of noncoding mutations in BCC, particularly functional alterations in the TERT promoter.
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