Hereditary Cancer Gene Panel Analysis

DNA extracted from peripheral blood was analyzed using a capture-based approach with custom-designed probes (KAPA HyperExplore Max 3 Mb T1, NimbleGen, Roche) targeting all coding exons and 20 bp of flanking intronic regions of 52 genes involved in hereditary predisposition to cancer. Sample preparation was performed according to the SeqCap EZ HyperCap Workflow (Roche NimbleGen, Pleasanton, CA) as previously described.^{19 (link)} Sequencing was performed on the DNBSEQ-G400 NGS platform (MGI Tech, Beishan Industrial Zone, Shenzhen, PR China).

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Papadopoulou E., Rigas G., Fountzilas E., Boutis A., Giassas S., Mitsimponas N., Daliani D., Ziogas D.C., Liontos M., Ramfidis V., Christophilakis C., Matthaios D., Floros T., Florou-Chatzigiannidou C., Agiannitopoulos K., Meintani A., Tsantikidi A., Katseli A., Potska K., Tsaousis G., Metaxa-Mariatou V, & Nasioulas G. (2024). Microsatellite Instability Is Insufficiently Used as a Biomarker for Lynch Syndrome Testing in Clinical Practice. JCO Precision Oncology, 8, e2300332.

Publication 2024

SeqCap EZ HyperCap Workflow

Corresponding Organization :

Other organizations : Athens Medical Center, Agios Pavlos General Hospital, Euromedica, Theageneio General Hospital, LETO Maternity Hospital, Hygeia Hospital, Athens Euroclinic, National and Kapodistrian University of Athens, Alexandra Hospital, Hellenic Air Force, Metropolitan Hospital, General Hospital of Rhodes, Athens Naval & Veterans Hospital

Top 5 similar protocols

Variable analysis

independent variables

DNA extraction from peripheral blood

dependent variables

Genetic variants in 52 genes involved in hereditary predisposition to cancer

control variables

Capture-based approach with custom-designed probes (KAPA HyperExplore Max 3 Mb T1, NimbleGen, Roche) targeting all coding exons and 20 bp of flanking intronic regions of 52 genes
Sample preparation according to the SeqCap EZ HyperCap Workflow (Roche NimbleGen, Pleasanton, CA)
Sequencing on the DNBSEQ-G400 NGS platform (MGI Tech, Beishan Industrial Zone, Shenzhen, PR China)

positive controls

Not specified

negative controls

Not specified

Annotations

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