ArticleScientific reports2017
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 56 citations in OpenAlex.
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- DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.World journal of gastroenterology · 2025Article
- Lynch syndrome caused by SINE-VNTR-Alu-F retrotransposon insert in MSH6 confirmed after 20 years of testing: a case report and literature review.Hereditary cancer in clinical practice · 2025Article
- TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.Genome medicine · 2025Article
- Detection of germline CNVs from gene panel data: benchmarking the state of the art.Briefings in bioinformatics · 2024Article
- A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments.Journal of community genetics · 2024Article
- Unbalancing cAMP and Ras/MAPK pathways as a therapeutic strategy for cutaneous neurofibromas.JCI insight · 2024Article
- The polygenic implication of clopidogrel responsiveness: Insights from platelet reactivity analysis and next-generation sequencing.PloS one · 2024Article
- Verrucous epidermal nevus as a manifestation of a type 2 mosaic PTEN mutation in Cowden syndrome.Pediatric dermatology · 2023Article
- Evaluation and Comparison of Multi-Omics Data Integration Methods for Subtyping of Cutaneous Melanoma.Biomedicines · 2022Article
- Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotypeMolecular therapy. Nucleic acids · 2022Article
- Skin lesions in neurofibromatosis type 2: diagnostic and prognostic significance of cutaneous (plexiform) schwannomas.Journal of the European Academy of Dermatology and Venereology : JEADV · 2022Article
- RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant.Scientific reports · 2021Article
- Genomic Sub-Classification of Ovarian Clear Cell Carcinoma Revealed by Distinct Mutational Signatures.Cancers · 2021Article
- Clinical Quality in Cancer Research: Strategy to Assess Data Integrity of Germline Variants Inferred from Tumor-Only Testing Sequencing Data.Pharmaceutical medicine · 2021Article
- Article
- Diagnostics of Mutations in MMR/Diagnostics (Basel, Switzerland) · 2020Review
- A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.Journal of translational medicine · 2020Article
- Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.Cancers · 2020Article
- Development and validation of a targeted gene sequencing panel for application to disparate cancers.Scientific reports · 2019Article
Corrections and comments
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Authors and funding
18 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We wanted to implement an NGS strategy to globally analyze hereditary cancer with diagnostic quality while retaining the same degree of understanding and control we had in pre-NGS strategies. To do this, we developed the I2HCP panel, a custom bait library covering 122 hereditary cancer genes. We improved bait design, tested different NGS platforms and created a clinically driven custom data analysis pipeline. The I2HCP panel was developed using a training set of hereditary colorectal cancer, hereditary breast and ovarian cancer and neurofibromatosis patients and reached an accuracy, analytical sensitivity and specificity greater than 99%, which was maintained in a validation set. I2HCP changed our diagnostic approach, involving clinicians and a genetic diagnostics team from panel design to reporting. The new strategy improved diagnostic sensitivity, solved uncertain clinical diagnoses and identified mutations in new genes. We assessed the genetic variation in the complete set of hereditary cancer genes, revealing a complex variation landscape that coexists with the disease-causing mutation. We developed, validated and implemented a custom NGS-based strategy for hereditary cancer diagnostics that improved our previous workflows. Additionally, the existence of a rich genetic variation in hereditary cancer genes favors the use of this panel to investigate their role in cancer risk.
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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.