ArticleJournal of molecular medicine (Berlin, Germany)2015
Functional and in silico assessment of MAX variants of unknown significance.
Article in Journal of molecular medicine (Berlin, Germany), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes.European journal of human genetics : EJHG · 2025Article
- Genotype and clinical phenotype characteristics ofFrontiers in endocrinology · 2024Article
- Gene biomarkers and classifiers for various subtypes of HTLV-1-caused ATLL cancer identified by a combination of differential gene co‑expression and support vector machine algorithms.Medical microbiology and immunology · 2023Article
- Computed cancer interactome explains the effects of somatic mutations in cancers.Protein science : a publication of the Protein Society · 2022Article
- A CTNNB1-altered medulloblastoma shows the immunophenotypic, DNA methylation and transcriptomic profiles of SHH-activated, and not WNT-activated, medulloblastoma.Neuropathology and applied neurobiology · 2022Article
- MYCN and MAX alterations in Wilms tumor and identification of novel N-MYC interaction partners as biomarker candidates.Cancer cell international · 2021Article
- Article
- A Novel MAX Gene Mutation Variant in a Patient With Multiple and "Composite" Neuroendocrine-Neuroblastic Tumors.Frontiers in endocrinology · 2020Article
- Construction of a model to predict the prognosis of patients with cholangiocarcinoma using alternative splicing events.Oncology letters · 2019Article
- Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Role of PLK1 signaling pathway genes in gastrointestinal stromal tumors.Oncology letters · 2018Article
- MAX Mutations in Endometrial Cancer: Clinicopathologic Associations and Recurrent MAX p.His28Arg Functional Characterization.Journal of the National Cancer Institute · 2018Article
- Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.JAMA oncology · 2017Article
- PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics.The Journal of molecular diagnostics : JMD · 2017Article
- A case study of an integrative genomic and experimental therapeutic approach for rare tumors: identification of vulnerabilities in a pediatric poorly differentiated carcinoma.Genome medicine · 2016Article
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Authors and funding
22 authors at 11 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledThe presence of germline mutations affecting the MYC-associated protein X (MAX) gene has recently been identified as one of the now 11 major genetic predisposition factors for the development of hereditary pheochromocytoma and/or paraganglioma. Little is known regarding how missense variants of unknown significance (VUS) in MAX affect its pivotal role in the regulation of the MYC/MAX/MXD axis. In the present study, we propose a consensus computational prediction based on five "state-of-the-art" algorithms. We also describe a PC12-based functional assay to assess the effects that 12 MAX VUS may have on MYC's E-box transcriptional activation. For all but two of these 12 VUS, the functional assay and the consensus computational prediction gave consistent results; we classified seven variants as pathogenic and three as nonpathogenic. The introduction of wild-type MAX cDNA into PC12 cells significantly decreased MYC's ability to bind to canonical E-boxes, while pathogenic MAX proteins were not able to fully repress MYC activity. Further clinical and molecular evaluation of variant carriers corroborated the results obtained with our functional assessment. In the absence of clear heritability, clinical information, and molecular data, consensus computational predictions and functional models are able to correctly classify VUS affecting MAX. KEY MESSAGES: A functional assay assesses the effects of MAX VUS over MYC transcriptional activity. A consensus computational prediction and the functional assay show high concordance. Variant carriers' clinical and molecular data support the functional assessment.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.