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Updated: Mar 9, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics
Elisabeth Castellanos1, Bernat Gel1, Inma Rosas1
1Hereditary Cancer Group, Program on Predictive and Personalized Medicine of Cancer (PMPPC), Germans Trias i Pujol Research Institute (IGTP), Can Ruti Campus, Badalona, Barcelona, Spain.
A new custom next-generation sequencing (NGS) panel, I2HCP, enhances hereditary cancer diagnostics. This validated strategy improves accuracy and identifies new mutations, aiding clinical decisions and cancer risk assessment.
Area of Science:
- Genetics
- Oncology
- Molecular Diagnostics
Background:
- Hereditary cancers require precise diagnostic tools.
- Previous strategies lacked comprehensive genomic analysis.
- Next-generation sequencing (NGS) offers potential for improved diagnostics.
Purpose of the Study:
- To develop and validate a custom NGS strategy for hereditary cancer diagnostics.
- To improve diagnostic sensitivity and accuracy compared to pre-NGS methods.
- To investigate genetic variation in hereditary cancer genes.
Main Methods:
- Development of the I2HCP panel, a custom bait library targeting 122 hereditary cancer genes.
- Optimization of bait design, NGS platform testing, and creation of a custom data analysis pipeline.
- Validation using training and validation sets of hereditary cancer patients.
Main Results:
- The I2HCP panel achieved >99% accuracy, analytical sensitivity, and specificity.
- The strategy improved diagnostic sensitivity, resolved uncertain diagnoses, and identified novel mutations.
- A complex landscape of genetic variation in hereditary cancer genes was revealed.
Conclusions:
- A custom NGS-based strategy (I2HCP) was successfully developed, validated, and implemented for hereditary cancer diagnostics.
- This approach significantly improved diagnostic workflows and clinical decision-making.
- The panel's utility extends to investigating the role of genetic variation in cancer risk.
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