Understanding the molecular genetics of basal cell carcinoma

Lucia Di Nardo, Cristina Pellegrini, Maria Giovanna Maturo, Valeria Ciciarelli, Carlota Gutiérrez García-Rodrigo, Maria Concetta Fargnoli

Risultato della ricerca: Contributo in rivistaArticolo in rivista

60 Citazioni (Scopus)


Basal cell carcinoma (BCC) is the most common human cancer and represents a growing public health care problem. Several tumor suppressor genes and proto-oncogenes have been implicated in BCC pathogenesis, including the key components of the Hedgehog pathway, PTCH1 and SMO, the TP53 tumor suppressor, and members of the RAS proto-oncogene family. Aberrant activation of the Hedgehog pathway represents the molecular driver in basal cell carcinoma pathogenesis, with the majority of BCCs carrying somatic point mutations, mainly ultraviolet (UV)-induced, and/or copy-loss of heterozygosis in the PTCH1 gene. Recent advances in sequencing technology allowed genome-scale approaches to mutation discovery, identifying new genes and pathways potentially involved in BCC carcinogenesis. Mutational and functional analysis suggested PTPN14 and LATS1, both effectors of the Hippo-YAP pathway, and MYCN as new BCC-associated genes. In addition, emerging reports identified frequent non-coding mutations within the regulatory promoter sequences of the TERT and DPH3-OXNAD1 genes. Thus, it is clear that a more complex genetic network of cancer-associated genes than previously hypothesized is involved in BCC carcinogenesis, with a potential impact on the development of new molecular targeted therapies. This article reviews established knowledge and new hypotheses regarding the molecular genetics of BCC pathogenesis.
Lingua originaleEnglish
pagine (da-a)2485-N/A
RivistaInternational Journal of Molecular Sciences
Stato di pubblicazionePubblicato - 2017


  • Animals
  • Basal cell carcinoma
  • Biomarkers
  • Carcinoma, Basal Cell
  • Cell Transformation, Neoplastic
  • DPH3 promoter
  • Gene Expression Regulation, Neoplastic
  • Genetic Predisposition to Disease
  • Genetic Therapy
  • Humans
  • LATS1
  • Loss of Heterozygosity
  • MYCN
  • Molecular genetics
  • Mutation
  • PTCH1
  • PTPN14
  • Signal Transduction
  • Skin Neoplasms
  • TERT promoter
  • TP53


Entra nei temi di ricerca di 'Understanding the molecular genetics of basal cell carcinoma'. Insieme formano una fingerprint unica.

Cita questo