ArticlePloS one2018
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 42 citations in OpenAlex.
- Mutational landscape in the precancerous stages of sporadic colorectal cancer.Oncology letters · 2026Article
- Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.Nature communications · 2026Article
- In-frame germline TP53 variant impairs p53 oligomerization and predisposes to cancer.Scientific reports · 2025Article
- Genetic characterization of Lynch syndrome germline variants in a LATAM cohort using a customized NGS gene panel.Frontiers in oncology · 2025Article
- A retrospective single-center pilot study of the genetic background of the transplanted kidney.PloS one · 2025Article
- RAD51 recruitment but not replication fork stability associates with PARP inhibitor response in ovarian cancer patient-derived xenograft models.NAR cancer · 2024Article
- A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer.Cancer medicine · 2024Article
- RAD18 directs DNA double-strand break repair by homologous recombination to post-replicative chromatin.Nucleic acids research · 2024Article
- A comprehensive analysis of germline predisposition to early-onset ovarian cancer.Scientific reports · 2024Article
- A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.Breast (Edinburgh, Scotland) · 2024Article
- Lynch syndrome-associated upper tract urothelial carcinoma frequently occurs in patients older than 60 years: an opportunity to revisit urology clinical guidelines.Virchows Archiv : an international journal of pathology · 2023Article
- Germline multigene panel testing of patients with endometrial cancer.Oncology letters · 2023Article
- DNA Repair Pathway in Ovarian Cancer Patients Treated with HIPEC.International journal of molecular sciences · 2023Article
- Article
- Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma.Cancers · 2022Article
- Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.Cancers · 2021Article
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- Article
- Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.Biomedicines · 2020Article
- A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.Journal of translational medicine · 2020Article
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Authors and funding
17 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCarriers of mutations in hereditary cancer predisposition genes represent a small but clinically important subgroup of oncology patients. The identification of causal germline mutations determines follow-up management, treatment options and genetic counselling in patients' families. Targeted next-generation sequencing-based analyses using cancer-specific panels in high-risk individuals have been rapidly adopted by diagnostic laboratories. While the use of diagnosis-specific panels is straightforward in typical cases, individuals with unusual phenotypes from families with overlapping criteria require multiple panel testing. Moreover, narrow gene panels are limited by our currently incomplete knowledge about possible genetic dispositions.
methodsWe have designed a multi-gene panel called CZECANCA (CZEch CAncer paNel for Clinical Application) for a sequencing analysis of 219 cancer-susceptibility and candidate predisposition genes associated with frequent hereditary cancers.
resultsThe bioanalytical and bioinformatics pipeline was validated on a set of internal and commercially available DNA controls showing high coverage uniformity, sensitivity, specificity and accuracy. The panel demonstrates a reliable detection of both single nucleotide and copy number variants. Inter-laboratory, intra- and inter-run replicates confirmed the robustness of our approach.
conclusionThe objective of CZECANCA is a nationwide consolidation of cancer-predisposition genetic testing across various clinical indications with savings in costs, human labor and turnaround time. Moreover, the unified diagnostics will enable the integration and analysis of genotypes with associated phenotypes in a national database improving the clinical interpretation of variants.
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