What is the role of genetics in the etiology of basal cell carcinoma (BCC)?

Updated: Mar 02, 2020
  • Author: Robert S Bader, MD; Chief Editor: William D James, MD  more...
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Answer

Studies have demonstrated a high incidence of TP53 gene mutations in BCC. Researchers speculate that ultraviolet sunlight may play an important role in the genesis of this mutation; yet, genetic involvement has been demonstrated on chromosome 9 only in patients with familial basal cell nevus syndrome (Gorlin syndrome). Such mutation involves the patched (PTCH) gene, a tumor suppressor gene.

Inappropriate activation of the hedgehog signaling pathway is found in both sporadic and familial cases of BCC. This results in loss-of-function mutations in tumor-suppressor protein patched homologue 1 (PTCH1) and gain-of-function mutations in sonic hedgehog (SHH), smoothened (SMO), and Gli.


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