ArticleMedicine2018
Germline mutation of CHEK2 in neurofibromatosis 1 and 2: Two case reports.
Article in Medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Generation of a zebrafish neurofibromatosis model via inducible knockout of nf2a/b.Disease models & mechanisms · 2024Article
- Generation of a zebrafish neurofibromatosis model via inducible knockout ofbioRxiv : the preprint server for biology · 2024Article
- Case report: Two sisters with a germlineFrontiers in endocrinology · 2022Article
- MUTYH: Not just polyposis.World journal of clinical oncology · 2020Review
- Comparative genomic analysis of driver mutations in matched primary and recurrent meningiomas.Oncotarget · 2019Article
- Case Report of an Adrenocortical Carcinoma Associated With GermlineJournal of the Endocrine Society · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationaleNeurofibromatosis, including type 1 and type 2, is inherited dominant disease that causes serious consequences. The genetic mechanism of these diseases has been described, but germline mutation of checkpoint 2 kinase gene, together with other DNA repair related genes, has not been fully elucidated in the context of neurofibromatosis. PATIENT CONCERNS: In this article, we reported identical germline mutation of CHEK2 gene (p.R180C) in a 7-year-old Tibetan boy with NF1, and in a 12-year-old Chinese girl with NF2. DIAGNOSES: Neurofibromatosis 1 and 2 with CHECK2 gene germline mutation.
interventionsBoth patients underwent operation to obtain tumor tissue, and peripheral blood of their family was tested. OUTCOMES: Identical germline mutation of CHEK2 gene (p.R180C) was detected in both patients, and germline mutations of POLE, MUTYH and ATR were also detected. LESSONS: This is the first article to describe CHEK2 mutation in both NF1 and NF2. This article highlights a possible role of CHEK2, in association with other germline genetic mutations, in tumorigenesis of NF1 and NF2.
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Registered trials
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