التفاصيل البيبلوغرافية
| العنوان: |
Understanding the Molecular Genetics of Basal Cell Carcinoma. |
| المؤلفون: |
Pellegrini, Cristina1 cristina.pellegrini@cc.univaq.it, Maturo, Maria Giovanna1 mariagiovanna.maturo@graduate.univaq.it, Di Nardo, Lucia1 luciadinardo@hotmail.it, Ciciarelli, Valeria1 valeria.ciciarelli@hotmail.it, García-Rodrigo, Carlota Gutiérrez1 carlota.gutierrez.gr@gmail.com, Fargnoli, Maria Concetta1 mariaconcetta.fargnoli@univaq.it |
| المصدر: |
International Journal of Molecular Sciences. Nov2017, Vol. 18 Issue 11, p2485. 16p. |
| مصطلحات موضوعية: |
*BASAL cell carcinoma, *MOLECULAR genetics, *CANCER, *PUBLIC health, *CARCINOGENESIS |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
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