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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<jats:italic>PTCH1<\/jats:italic>in Gorlin syndrome has not been explored. This study aimed to identify common gene mutations other than<jats:italic>PTCH1<\/jats:italic>in simultaneously occurring basal cell carcinomas in patients with Gorlin syndrome via exome sequencing analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Overall, 282 somatic mutations were identified in the neoplasms. No additional somatic mutations in<jats:italic>PTCH1<\/jats:italic>,<jats:italic>PTCH2<\/jats:italic>,<jats:italic>TP53<\/jats:italic>, and<jats:italic>SMO<\/jats:italic>were identified. However, enrichment analysis showed that multiple genes, such as<jats:italic>IFT172<\/jats:italic>and<jats:italic>KIFAP3,<\/jats:italic>could regulate ciliary functions important for Hedgehog signaling.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The development of BCCs in patients with Gorlin syndrome may be triggered by mutations that cause substantial dysfunction of cilia.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s13023-021-02033-7","type":"journal-article","created":{"date-parts":[[2021,10,21]],"date-time":"2021-10-21T09:02:42Z","timestamp":1634806962000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma"],"prefix":"10.1186","volume":"16","author":[{"given":"Shoko","family":"Onodera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nana","family":"Morita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuriko","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinichi","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhiko","family":"Hashimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Nomura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Katakura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0673-3400","authenticated-orcid":false,"given":"Toshifumi","family":"Azuma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,10,21]]},"reference":[{"issue":"882","key":"2033_CR1","first-page":"884","volume":"5","author":"J-L Bulliard","year":"2009","unstructured":"Bulliard J-L, Panizzon RG, Levi F. 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The study was approved by the ethics committee for clinical research at the Tokyo Dental College Suidoubashi Hospital and Ichikawa General Hospital (Tokyo, Japan) (no. 527, no. 575, and I 15-78RII). Furthermore, it complies with the tenets of the declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The datasets generated and analyzed during the current study are available in the DDBJ databank of Japan (accession number: JGA 000099).","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Availability of data and materials"}},{"value":"The authors declare that they have no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"443"}}