Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma.

ABSTRACT: 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. 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. Overall, 282 somatic mutations were identified in

SUBMITTER: Onodera S 

PROVIDER: S-EPMC8529737 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature