AUTHOR=Li Xueen , Xue Hao , Luo Ningning , Han Tiantian , Li Mengmeng , Jia Deze 

TITLE=The First Case Report of a Patient With Oligodendroglioma Harboring CHEK2 Germline Mutation

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.718689

DOI=10.3389/fgene.2022.718689

ISSN=1664-8021

ABSTRACT=<p><bold>Introduction:</bold><italic>CHEK2</italic> (Checkpoint kinase 2) germline mutations were associated with an elevated risk of breast cancer, colorectal cancer, and other familiar cancers. Loss-of-function variants in <italic>CHEK2</italic> are known to be pathogenic. Germline <italic>CHEK2</italic> mutations have also been observed in medulloblastoma and primary glioblastomas. Currently, there is no direct evidence supporting the relationship of <italic>CHEK2</italic> with central nervous system tumors.</p><p><bold>Case presentation:</bold> A case of an oligodendroglioma patient harboring the germline <italic>CHEK2</italic> p.R137* mutation was reported. <italic>CHEK2</italic> p.R137* mutation occurred in the forkhead-associated domain. Given the absence of other known genetic predisposing risk factors, we considered that oligodendroglioma might be associated with the <italic>CHEK2</italic> mutation. The patient in our case might have a high risk of breast cancer and other multiple primary tumors. Her siblings and offspring would have a 50% chance of having the same variant.</p><p><bold>Conclusion:</bold> We reported a case of an oligodendroglioma patient with a family history of gastrointestinal tumors harboring the germline <italic>CHEK2</italic> pathogenic variation. This is the first report of the association between the <italic>CHEK2</italic> pathogenic variation and brain tumors that warrants further validation in larger cohorts.</p>