Article
Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas.
Cancer research - 15 Apr 2018
Buffet Alexandre, Morin Aurélie, Castro-Vega Luis-Jaime, Habarou Florence, Lussey-Lepoutre Charlotte, Letouzé Eric, Lefebvre Hervé, Guilhem Isabelle, Haissaguerre Magalie, Raingeard Isabelle, Padilla-Girola Mathilde, Tran Thi, Tchara Lucien, Bertherat Jérôme, Amar Laurence, Ottolenghi Chris, Burnichon Nelly, Gimenez-Roqueplo Anne-Paule, Favier Judith
Abstract excerpt
Comprehensive genetic analyses have identified germline SDHB and FH gene mutations as predominant causes of metastatic paraganglioma and pheochromocytoma. However, some suspicious cases remain unexplained. In this study, we performed whole-exome sequencing of a paraganglioma exhibiting an SDHx-like molecular profile in the absence of SDHx or FH mutations and identified a germline mutation in the SLC25A11 gene,...
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