ArticleHereditary cancer in clinical practice2009
The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.
Article in Hereditary cancer in clinical practice, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 44 citations in OpenAlex.
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- Clinicopathologic and genetic analysis of invasive breast carcinomas in women with germline CHEK2 variants.Breast cancer research and treatment · 2024Article
- Increased frequency ofGenetics in medicine open · 2024Article
- Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors.International journal of molecular sciences · 2023Article
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- Identification of New Potential Prognostic and Predictive Markers in High-Grade Osteosarcoma Using Whole Exome Sequencing.International journal of molecular sciences · 2023Article
- Case report: Tisagenlecleucel for treatment of relapsed B- acute lymphoblastic leukemia in a patient withFrontiers in pediatrics · 2023Article
- Distinct p53 isoforms code for opposing transcriptional outcomes.Developmental cell · 2022Article
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- Whole exome sequencing identified a novelFrontiers in oncology · 2022Article
- Germline risk of clonal haematopoiesis.Nature reviews. Genetics · 2021Review
- Review: Ewing Sarcoma Predisposition.Pathology oncology research : POR · 2020Review
- Li-Fraumeni syndrome heterogeneity.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2020Review
- What's new in bone forming tumours of the skeleton?Virchows Archiv : an international journal of pathology · 2020Review
- Article
- Case Report of an Adrenocortical Carcinoma Associated With GermlineJournal of the Endocrine Society · 2019Article
- [Soft tissue tumors in hereditary tumor syndromes].Der Pathologe · 2017Review
- Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2.Medicine · 2016Article
- Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCHEK2 has previously been excluded as a major cause of Li-Fraumeni syndrome (LFS). One particular CHEK2 germline mutation, c.1100delC, has been shown to be associated with elevated breast cancer risk. The prevalence of CHEK2*1100delC differs between populations and has been found to be relatively high in the Netherlands. The question remains nevertheless whether CHEK2 germline mutations contribute to the Li-Fraumeni phenotype.
methodsWe have screened 65 Dutch TP53-negative LFS/LFL candidate patients for CHEK2 germline mutations to determine their contribution to the LFS/LFL phenotype.
resultsWe identified six index patients with a CHEK2 sequence variant, four with the c.1100delC variant and two sequence variants of unknown significance, p.Phe328Ser and c.1096-?_1629+?del.
conclusionOur data show that CHEK2 is not a major LFS susceptibility gene in the Dutch population. However, CHEK2 might be a factor contributing to individual tumour development in TP53-negative cancer-prone families.
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