Development and validation of next generation sequencing based 35-gene hereditary cancer panel.

Development and validation of next generation sequencing based 35-gene hereditary cancer panel.

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Understanding the genetic basis of cancer risk is an international effort. The advent of next-generation sequencing (NGS) in late 2000 has further accelerated the discovery of many cancer susceptibility genes. The use of targeted NGS-panel multigene testing to provide a comprehensive analysis of cancer susceptibility genes has proven to be a viable option, with accurate and robust detection of clinically relevant variants in targeted gene into crucial.We has been developed and validated tests are targeted based NGS for risk assessment of hereditary cancer using Illumina NGS Platform by analyzing the protein-coding regions of 35 genes hereditary cancer with bioinformatics pipeline that utilize standard practice in the field. 35-offspring cancer panel is designed to identify the gene germline mutations cause cancer to 8 different cancers: breast, ovary, prostate, uterus, colon, pancreatic, gastric cancer and melanoma. Panel validated using DNA specimens were characterized [NIGMS Human Genetic Cell Repository], where the DNA was extracted using the blood of individual genetic variants had previously been characterized by the Genome Project in 1000 and Coriell Catalog.The 35-gene panel hereditary cancer showed high sensitivity (99.9%) and specificity (100%) in 4820 variants including single nucleotide variants (SNVs) and small insertions and deletions (INDEL; up to 25 bp). Reproducibility and repeatability is 99.8 and 100%, respectively.The use of NGS targeted based multigene test panel to provide a comprehensive analysis of cancer susceptibility genes has been considered as a viable option. In this study, we developed and validated a 35-gene panel for testing eight common cancers using next-generation sequencing (NGS). Our descent cancer panel performance rated on the board of numerous variants in 35 genes to support the clinical use.

Understanding the genetic basis of cancer risk is an international effort. The advent of next-generation sequencing (NGS) in late 2000 has further accelerated the discovery of many cancer susceptibility genes. The use of targeted NGS-panel multigene testing to provide a comprehensive analysis of cancer susceptibility genes has proven to be a viable option, with accurate … Read more