ArticleMedicine2016
Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2.
Article in Medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Article
- Orthopedic manifestations of Li-Fraumeni syndrome: Prevention and treatment of a polymorphic spectrum of malignancies.World journal of clinical cases · 2024Article
- Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.Cancer research communications · 2023Article
- Whole exome sequencing identified a novelFrontiers in oncology · 2022Article
- Article
- Familial Lung Cancer: A Brief History from the Earliest Work to the Most Recent Studies.Genes · 2017Review
- Erratum: Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation inMedicine · 2016Article
Corrections and comments
- Erratum issued
Authors and funding
19 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCases of multiple tumors are rarely reported in China. In our study, a 57-year-old female patient had concurrent squamous cell carcinoma, mucoepidermoid carcinoma, brain cancer, bone cancer, and thyroid cancer, which has rarely been reported to date.
methodsTo determine the relationship among these multiple cancers, available DNA samples from the thyroid, lung, and skin tumors and from normal thyroid tissue were sequenced using whole exome sequencing.
resultsThe notable discrepancies of somatic mutations among the 3 tumor tissues indicated that they arose independently, rather than metastasizing from 1 tumor. A novel deleterious germline mutation (chr22:29091846, G->A, p.H371Y) was identified in CHEK2, a Li-Fraumeni syndrome causal gene. Examining the status of this novel mutation in the patient's healthy siblings revealed its de novo origin.
conclusionOur study reports the first case of Li-Fraumeni syndrome-like in Chinese patients and demonstrates the important contribution of de novo mutations in this type of rare disease.
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