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

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

Clinical application and evaluation of metagenomic next-generation sequencing in suspected adult central nervous system infection.

accurate etiologic diagnosis is essential for infection of the central nervous system (CNS infections). The diagnostic value of metagenomic sequencing generation (mNGS), a powerful platform that appears, remains to be studied in the CNS infections.We conduct a prospective cohort study comparing single-center for mNGS with conventional methods including culture, smear and others 248 suspected CNS infectious patients were enrolled and clinical data were recorded. RESULTS mNGS reported a sensitivity of 90.00% (9/10) in patients with culture-positive without empirical treatment and 66.67% (6/9) in patients treated empirically. Detected addition of 48 bacteria and fungi in culture-negative patients, mNGS provide higher detection rate compared with culture in patients with (34.45% vs. 7.56%, McNemar test, p 0.0083). Compared with the conventional method, the positive percent agreement and negative percent agreement was 75.00% and 69.11% separately. mNGS detection rate was significantly higher in patients with cerebrospinal fluid (CSF) WBC> 300 * 106 / L, CSF protein> 500 mg / L or glucose ratio ≤ 0.3. mNGS sequencing reads correlated with CSF WBC, the ratio of glucose and the development of clinical disease. mNGS showed satisfactory diagnostic performance in CNS infections and has a superior detection rate overall culture. mNGS probably held diagnostic benefit, especially in patients treated empirically. CSF laboratory results are statistically relevant mNGS detection rate, and mNGS can dynamically monitor the progression of the disease.

accurate etiologic diagnosis is essential for infection of the central nervous system (CNS infections). The diagnostic value of metagenomic sequencing generation (mNGS), a powerful platform that appears, remains to be studied in the CNS infections. We conduct a prospective cohort study comparing single-center for mNGS with conventional methods including culture, smear and others 248 suspected … Read more

Efficacy of platinum in advanced triple-negative breast cancer with germline BRCA mutation determined by next generation sequencing.

objectiveTo compare the efficacy of platinum and non-platinum-based regimens as first-line treatment for triple-negative breast cancer is advanced (TNBC) and analyze the relationship between their success and status of the BRCA genes. methodRetrospectively analyzed clinical data from 220 patients diagnosed with advanced pathological TNBC and treated in the Department of Breast Oncology, Peking University Cancer … Read more