Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma

Shoko Onodera, Nana Morita, Yuriko Nakamura, Shinichi Takahashi, Kazuhiko Hashimoto, Takeshi Nomura, Akira Katakura, Kenjiro Kosaki, Toshifumi Azuma

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


Background: Basal cell carcinoma (BCC) is the most commonly occurring neoplasm in patients with Gorlin syndrome. It is widely accepted that multiple basal cell carcinomas simultaneously develop in middle-aged patients with this syndrome. However, the presence of driver genes other than the PTCH1 in Gorlin syndrome has not been explored. This study aimed to identify common gene mutations other than PTCH1 in simultaneously occurring basal cell carcinomas in patients with Gorlin syndrome via exome sequencing analysis. Methods: Next-generation sequencing analysis was performed using four basal cell carcinoma samples, one dental keratinocyte sample, and two epidermoid cyst samples, which were surgically resected from one patient with Gorlin syndrome on the same day. Results: Overall, 282 somatic mutations were identified in the neoplasms. No additional somatic mutations in PTCH1, PTCH2, TP53, and SMO were identified. However, enrichment analysis showed that multiple genes, such as IFT172 and KIFAP3, could regulate ciliary functions important for Hedgehog signaling. Conclusion: The development of BCCs in patients with Gorlin syndrome may be triggered by mutations that cause substantial dysfunction of cilia.

Original languageEnglish
Article number443
JournalOrphanet journal of rare diseases
Issue number1
Publication statusPublished - 2021 Dec


  • Basal cell carcinoma
  • Exome sequence
  • Gene mutation
  • Gorlin syndrome
  • Hedgehog signaling
  • Nevoid basal cell carcinoma
  • Odontogenic keratocyst

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)


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