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Int. J. Mol. Sci. 2017, 18(11), 2485; https://doi.org/10.3390/ijms18112485

Understanding the Molecular Genetics of Basal Cell Carcinoma

Department of Dermatology, Department of Biotechnological and Applied Clinical Sciences, University of L’Aquila, 67100 L’Aquila, Italy
The authors contributed equally to this work.
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Received: 17 October 2017 / Revised: 12 November 2017 / Accepted: 21 November 2017 / Published: 22 November 2017
(This article belongs to the Special Issue Basal Cell Carcinoma)
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Abstract

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. View Full-Text
Keywords: basal cell carcinoma; molecular genetics; PTCH1; TP53; MYCN; PTPN14; LATS1; TERT promoter; DPH3 promoter basal cell carcinoma; molecular genetics; PTCH1; TP53; MYCN; PTPN14; LATS1; TERT promoter; DPH3 promoter
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Pellegrini, C.; Maturo, M.G.; Di Nardo, L.; Ciciarelli, V.; Gutiérrez García-Rodrigo, C.; Fargnoli, M.C. Understanding the Molecular Genetics of Basal Cell Carcinoma. Int. J. Mol. Sci. 2017, 18, 2485.

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