Fight hereditary cancer with Next Generation Sequencing
Introduction
Inherited cancer, particularly breast and ovarian cancer, pose significant diagnostic and therapeutic challenges. Recent advancements in next-generation sequencing (NGS) have opened new avenues for early detection and personalized treatment strategies. In Italy, the Teleton Foundation, guided by Professor Davide Cacchiarelli, is pioneering the application of these genomic tools to screen for mutations in key cancer-related genes. Their innovative approach holds promise for enhancing both basic research and clinical outcomes.
Targeted sequencing for Hereditary Breast and Ovarian Cancers
Central to the Teleton Foundation’s efforts is the development of a targeted screening panel focusing on the sequencing of five critical genes—BRCA1, BRCA2, CHEK2, PALB2, and ATM—all strongly linked to hereditary breast, ovarian, thyroid, pancreatic, and prostate cancers. By leveraging the power of amplicon sequencing, the Foundation has achieved coverage of 99% of the coding regions within these genes, ensuring higher diagnostic accuracy.
This optimally designed amplicon sequencing panel is paired with a refined computational pipeline. By automatically filtering and reporting clinically relevant variants from public databases, the workflow streamlines the interpretation process, enhancing efficiency for large-scale or population-level testing.
Explore whole genome sequencing with DNBSEQ technology
A standout feature in the Teleton Foundation’s strategy is the DNA Nanoball (DNB) sequencing technology, provided by MGI. DNB offers an orthogonal validation method—essentially a complementary platform to standard sequencing by synthesis (SBS)—enabling:
Confirmation of challenging variants: DNB can resolve complex genomic regions that other methods find difficult to sequence.
Cost-effectiveness: Competitive pricing allows broader adoption in both research and clinical settings.
Data accuracy: Orthogonal validation strengthens confidence in rare variant calls and reduces false positives.
According to Professor Cacchiarelli, “The DNB technology provides an orthogonal way to validate our findings and better refine difficult regions of our genome, ultimately enabling us to deliver more affordable, high-quality genomes.”
Beyond Cancer: Expanding the Scope of NGS with spatial transcriptomic
While hereditary breast and ovarian cancer research remains central, the Teleton Foundation also employs these advanced sequencing tools in multiple other domains:
1. Early Embryo Development
Researchers are delving into spatial transcriptomic sequencing to study artificial embryos, unraveling early developmental processes with unprecedented clarity.
2. Explore the transcriptome of challenging samples
RNA-seq in combination with the DNBSEQ technology efficiently monitor the expression of specific tumor cells or metastases present in challenging samples like FFPE or liquid biopsies
Translational and Population-Level Impact of genomics
A cornerstone of the Teleton Foundation’s mission is translating genomic insights into tangible patient benefits. Their vision extends to:
Population Genomics: Developing affordable, large-scale screening programs to identify carriers of hereditary cancer and other genetic disorders within the general population.
Comprehensive Patient Support: Beyond diagnosis, the Foundation is committed to guiding patients “in their journey towards an effective diagnosis,” emphasizing accessible genomic counseling and follow-up care.
By bridging basic research and clinical application, these programs aim to reduce healthcare burdens, enhance patient outcomes, and support individualized therapy decisions.
Conclusion
Professor Davide Cacchiarelli and the Teleton Foundation exemplify how NGS and DNB technologies can revolutionize hereditary cancer research. Through refined amplicon panels, robust informatic pipelines, and strategic integration of multi-omics methods the Foundation demonstrates:
High-coverage targeted sequencing screening for hereditary breast, ovarian, and other cancers.
Orthogonal validation using DNB technology for improved data accuracy.
Expansion of sequencing applications to early embryo development and liquid biopsy research.
Commitment to translational impact by supporting individuals with timely and precise genetic diagnoses.
These advances underscore the promise of genome-wide approaches in unraveling complex hereditary conditions, ultimately driving innovations that benefit patients, clinicians, and the broader scientific community.
References
BRCA1 and BRCA2
CHEK2
PALB2
ATM
Whole genome sequencing (WGS)
NGS
Hereditary Cancer
BRCA1
BRCA2
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