Prevalence of pathogenic germline variants in adult-type diffuse glioma.

Malcolm F McDonald,Lyndsey L Prather,Cassandra R Helfer,Ethan B Ludmir,Alfredo E Echeverria,Shlomit Yust-Katz,Akash J Patel,Benjamin Deneen,Ganesh Rao,Ali Jalali,Shweta U Dhar,Chris I Amos,Jacob J Mandel

Neuro-oncology practice（2023）

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摘要

These findings suggest a possible overlooked opportunity for determination of hereditary cancer syndromes with impact on surveillance as well as potential broader treatment options. Further studies that can determine the role of variants in gliomagenesis and confirm the occurrence and types of pathogenic germline variants in patients with wild type compared to mutant tumors are necessary.

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diffuse glioma, glioblastoma, pathogenic germline variants

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