scholarly journals Next Generation Sequencing a Method for Identifying Genetic Mutations Associated with Spina Bifida Disorder

2019 ◽  
Vol 17 (2) ◽  
pp. 37-44
Author(s):  
Hanieh Naddaf ◽  
Arash Sattari ◽  
Sina Mirzaahmadi ◽  
◽  
◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Spina Bifida ◽  
Genetic Mutations ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Power and Promise of Next-Generation Sequencing in Liquid Biopsies and Cancer Control

2020 ◽  
Vol 27 (3) ◽  
pp. 107327482093480
Author(s):  
Ting-Miao Wu ◽  
Ji-Bin Liu ◽  
Yu Liu ◽  
Yi Shi ◽  
Wen Li ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Treatment Plan ◽  
Genetic Mutations ◽  
Specific Gene ◽  
Specific Situation ◽  
Next Generation ◽  
Early Screening ◽  
Liquid Biopsies ◽  
Cancer Management ◽  
Generation Sequencing

Traditional methods of cancer treatment are usually based on the morphological and histological diagnosis of tumors, and they are not optimized according to the specific situation. Precision medicine adjusts the existing treatment regimen based on the patient’s genomic information to make it most suitable for patients. Detection of genetic mutations in tumors is the basis of precise cancer medicine. Through the analysis of genetic mutations in patients with cancer, we can tailor the treatment plan for each patient with cancer to maximize the curative effect, minimize damage to healthy tissues, and optimize resources. In recent years, next-generation sequencing technology has developed rapidly and has become the core technology of precise targeted therapy and immunotherapy for cancer. From early cancer screening to treatment guidance for patients with advanced cancer, liquid biopsy is increasingly used in cancer management. This is as a result of the development of better noninvasive, repeatable, sensitive, and accurate tools used in early screening, diagnosis, evaluation, and monitoring of patients. Cell-free DNA, which is a new noninvasive molecular pathological detection method, often carries tumor-specific gene changes. It plays an important role in optimizing treatment and evaluating the efficacy of different treatment options in clinical trials, and it has broad clinical applications.

Genomic analysis for potential targetable mutations in relapsed and refractory germ cell tumors.

2020 ◽  
Vol 38 (6_suppl) ◽  
pp. 407-407
Author(s):  
Sean Q. Kern ◽  
Lawrence H. Einhorn ◽  
Nabil Adra
Keyword(s):  
Next Generation Sequencing ◽  
Germ Cell ◽  
Germ Cell Tumors ◽  
Genetic Mutations ◽  
High Dose ◽  
Cell Transplant ◽  
Next Generation ◽  
Genomic Alterations ◽  
Platinum Based Chemotherapy ◽  
Generation Sequencing

407 Background: A large number of metastatic germ cell tumors (GCTs) are cured with platinum-based chemotherapy. Patients that have relapsed or refractory disease can be cured with salvage therapy including salvage surgery, standard dose or high-dose chemotherapy with stem-cell transplant. However, 15-20% of patients with metastatic GCT are incurable with current therapeutic options. We sought to perform a genetic analysis on a cohort of these incurable patients to determine the presence of therapeutically targetable genetic mutations. Methods: After obtaining IRB approval, patients treated at Indiana University for refractory or relapsed GCT from 2016-2019 were analyzed with a next-generation sequencing (NGS) platform. Clinically relevant genomic alterations were reviewed to determine the potential for targeted therapies. Results: 10 patients with testicular (9) or ovarian (1) GCT underwent an analysis of tissue (7), blood (1), or both (2) with a mean 2.9 potential targetable mutations per patient. Four patients had NGS from preserved gonadal tissue removed prior to chemotherapy while 6/10 sample specimens were obtained post standard (1) or high-dose (5) chemotherapy. Potential known therapeutic targets were found in 80% (8/10). Of the platforms that tested biomarkers, high microsatellite instability (MSI) (1/5), intermediate tumor mutational burden (1/4), and high PD-L1 expression of 90% (1/3) was appreciated. The MSI-high patient did not respond to pembrolizumab. A patient with a KIT only mutation did not achieve a response to imatinib. One patient with KRAS, KIT, RAF1, CCND2, MET, AR, CDK6, PDGFRA, EGFR, and BRAF mutations was treated with brentuximab and was progression free for 2.5 months. Common mutations were CCND2 (4/10), RAF1 (2/10), KIT (2/10), and KRAS (2/10). Other mutations actionable in non-GCT tumors included ERCC1, TUBB3, RRMI, PIK3CA, TOPO1 and TP53. Conclusions: NGS identifies potential clinically relevant genomic alterations. Genetic mutations may enable future effective therapies as our understanding of platinum-resistant disease evolves. To our knowledge, this is among the first reports utilizing next-generation sequencing in GCT to direct potential therapeutic agents.

scholarly journals Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis

2018 ◽  
Vol 10 (5) ◽  
pp. 2618-2630 ◽  
Author(s):  
Wei-Jie Guan ◽  
Jia-Cheng Li ◽  
Fang Liu ◽  
Jian Zhou ◽  
Ya-Ping Liu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Mutations ◽  
Next Generation ◽  
Generation Sequencing

The role of screening MRI in the era of next generation sequencing and moderate-risk genetic mutations

2017 ◽  
Vol 17 (1) ◽  
pp. 167-173 ◽  
Author(s):  
Sarah Macklin ◽  
Jennifer Gass ◽  
Ghada Mitri ◽  
Paldeep S. Atwal ◽  
Stephanie Hines
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Mutations ◽  
Next Generation ◽  
Moderate Risk ◽  
Generation Sequencing

scholarly journals Mixed phenotype acute leukemia contains heterogeneous genetic mutations by next-generation sequencing

Oncotarget ◽  
2018 ◽  
Vol 9 (9) ◽  
pp. 8441-8449 ◽  
Author(s):  
Andrés E. Quesada ◽  
Zhihong Hu ◽  
Mark J. Routbort ◽  
Keyur P. Patel ◽  
Rajyalakshmi Luthra ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Acute Leukemia ◽  
Genetic Mutations ◽  
Next Generation ◽  
Mixed Phenotype Acute Leukemia ◽  
Mixed Phenotype ◽  
Generation Sequencing

Next-Generation Sequencing Screening Reveals Novel Genetic Variants for Dilated Cardiomyopathy in Pediatric Chinese Patients

2021 ◽  
Author(s):  
yan wang ◽  
bo han ◽  
youfei fan ◽  
yingchun yi ◽  
jianli lv ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Dilated Cardiomyopathy ◽  
Clinical Outcomes ◽  
Genetic Alterations ◽  
Left Ventricular ◽  
Cytoskeletal Proteins ◽  
Genetic Mutations ◽  
Next Generation ◽  
Pathogenic Mutations ◽  
Generation Sequencing

Abstract Dilated cardiomyopathy (DCM) is a myocardial disease characterized by bilateral or left ventricular cardiac dilation and systolic dysfunction leading to heart failure and sudden cardiac death in children. Most studies focus on the genetic alterations in DCM-related genes in adult populations; however, it remains enigmatic about the mutational landscape in pediatric DCM patients, especially in the Chinese population. We exploited the next-generation sequencing (NGS) technologies to genetically analyze 46 pediatric patients and to decipher the genotype-phenotype correlation in these patients’ clinical outcomes. Our results indicated DCM-associated pathogenic mutations in 10 genes related to the structure or function of the sarcomere, desmosomal and cytoskeletal proteins. We also identified 6 pathogenic mutations (5 novel) in the titin (TTN) gene leading to the formation of truncated TTN protein variants in 6 (13%) out of 46 patients each. Furthermore, we investigated the correlations between TTN gene mutation and clinical outcomes in these patients. Conclusion: Our data suggest that one-third of cases of pediatric DCM are caused by genetic mutations. The role of TTN variants should not be underestimated in pediatric DCM and age-dependent pathogenic penetrance of these genetic mutations needs to be considered in the case of familial DCM. Thus, NGS analysis can be applied to decode the yet unknown DCM etiological genetic factors in pediatric as well as adult patients.

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