Article
Dual PTCH2 mutation [Ser391*, Leu104Pro]: unveiling a potential new genetic susceptibility factor for glioma development.
Investigational new drugs - 1 Feb 2025
Li Xiang, Wu Yingting, Han Tiantian, Ding Ran, Kong Rongrong, Chen Siqi, Luo Ningning, Jin Mingji, Chen Dongsheng, Zhang Ping
Abstract excerpt
Gliomas are a heterogeneous type of central nervous system tumor. The etiology of glioma formation remains elusive, with approximately 5% of gliomas being familial, underscoring the significance of understanding genetic susceptibility in glioma development. In this study, a dual germline PTCH2 mutation [Ser391*, Leu104Pro] was identified in a family with a history of glioma, and sequencing data from WES/SimcereDx...
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