Article
Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin.
Acta neuropathologica - 1 Jul 2021
Förster Alisa, Brand Frank, Banan Rouzbeh, Hüneburg Robert, Weber Christine A M, Ewert Wiebke, Kronenberg Jessica, Previti Christopher, Elyan Natalie, Beyer Ulrike, Martens Helge, Hong Bujung, Bräsen Jan H, Erbersdobler Andreas, Krauss Joachim K, Stangel Martin, Samii Amir, Wolf Stephan, Preller Matthias, Aretz Stefan, Wiese Bettina, Hartmann Christian, Weber Ruthild G
Abstract excerpt
The genetic basis of brain tumor development is poorly understood. Here, leukocyte DNA of 21 patients from 15 families with ≥ 2 glioma cases each was analyzed by whole-genome or targeted sequencing. As a result, we identified two families with rare germline variants, p.(A592T) or p.(A817V), in the E-cadherin gene CDH1 that co-segregate with the tumor phenotype, consisting primarily of oligodendrogliomas, WHO...
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