What is the role of genetics in the etiology of cutaneous squamous cell carcinoma (cSCC)?

Updated: Jul 08, 2020
  • Author: Talib Najjar, DMD, MDS, PhD; Chief Editor: Arlen D Meyers, MD, MBA  more...
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Answer

A rare genetic defect that affects the repair mechanism for UVR-induced DNA damage, resulting in xeroderma pigmentosum, has been causally linked to UVR-induced cSCC. Xeroderma pigmentosum is characterized by severe sensitivity to UVR and premature development of cSCC.

A genetic study by Schwaerderle et al using next-generation sequencing indicated that seven genes (TP53, PIK3CA, CCND1, CDKN2A, SOX2, NOTCH 1, FBXW7) are altered more frequently in various types of SCC (including cSCC) than in non-SCC, while an eighth gene, KRAS, is altered less frequently in SCC. [8]


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