ArticleBrain pathology (Zurich, Switzerland)2018
CASP9 germline mutation in a family with multiple brain tumors.
Article in Brain pathology (Zurich, Switzerland), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
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- Effects and mechanisms of puerarin against neuroblastoma: insights from bioinformatics and in vitro experiments.BMC complementary medicine and therapies · 2024Article
- SNIP1 and PRC2 coordinate cell fates of neural progenitors during brain development.Nature communications · 2023Article
- Computational insights into missense mutations in HTT gene causing Huntington's disease and its interactome networks.Irish journal of medical science · 2023Article
- A Novel Classification Model for Lower-Grade Glioma Patients Based on Pyroptosis-Related Genes.Brain sciences · 2022Article
- Germline ALK variations are associated with a poor prognosis in glioma and IDH-wildtype glioblastoma.Journal of neuro-oncology · 2021Article
- Caspase-9: A Multimodal Therapeutic Target With Diverse Cellular Expression in Human Disease.Frontiers in pharmacology · 2021Review
- Germline cancer predisposition variants and pediatric glioma: a population-based study in California.Neuro-oncology · 2020Article
- Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.Breast cancer research : BCR · 2018Article
- Immune factors preceding diagnosis of glioma: a Prostate Lung Colorectal Ovarian Cancer Screening Trial nested case-control study.Neuro-oncology advancesArticle
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Authors and funding
16 authors at 5 institutions in 3 countries.
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Abstract
We report a novel CASP9 germline mutation that may increase susceptibility to the development of brain tumors. We identified this mutation in a family in which three brain tumors had developed within three generations, including two anaplastic astrocytomas occurring in cousins. The cousins were diagnosed at similar ages (29 and 31 years), and their tumors showed similar histological features. Genetic analysis revealed somatic IDH1 and TP53 mutations in both tumors. However, no germline TP53 mutations were detected, despite the fact that this family fulfills the criteria of Li-Fraumeni-like syndrome. Whole exome sequencing revealed a germline stop-gain mutation (R65X) in the CASP9 gene, which encodes caspase-9, a key molecule for the p53-dependent mitochondrial death pathway. This mutation was also detected in DNA extracted from blood samples from the two siblings who were each a parent of one of the affected cousins. Caspase-9 immunohistochemistry showed the absence of caspase-9 immunoreactivity in the anaplastic astrocytomas and normal brain tissues of the cousins. These observations suggest that CASP9 germline mutations may have played a role at least in part to the susceptibility of development of gliomas in this Li-Fraumeni-like family lacking a TP53 germline mutation.
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