Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma

Maria Giovanna Maturo, Sivaramakrishna Rachakonda, Barbara Heidenreich, Cristina Pellegrini, Nalini Srinivas, Celia Requena, Carlos Serra-Guillen, Beatriz Llombart, Onofre Sanmartin, Carlos Guillen, Lucia Di Nardo, Ketty Peris, Maria Concetta Fargnoli, Eduardo Nagore, Rajiv Kumar

Research output: Contribution to journalArticle

3 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)8005-N/A
JournalScientific Reports
Publication statusPublished - 2020


  • Biomarkers, Tumor
  • Carcinoma, Basal Cell
  • DNA Methylation
  • Epigenesis, Genetic
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Mutation
  • Open Reading Frames
  • Promoter Regions, Genetic
  • Skin Neoplasms
  • Untranslated Regions


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