scholarly journals P2.02-002 Digital Multiplexed Detection of Single Nucleotide Variants (SNV) in Non-Small Cell Lung Cancer Using NanoString Technology

2017 ◽  
Vol 12 (11) ◽  
pp. S2099 ◽  
Author(s):  
B. Parris ◽  
G. Meredith ◽  
P.M. Ross ◽  
M. Krouse ◽  
A. Mashadi-Hossein ◽  
...  
Diagnostics ◽  
2020 ◽  
Vol 10 (11) ◽  
pp. 902
Author(s):  
Elba Marin ◽  
Roxana Reyes ◽  
Ainara Arcocha ◽  
Nuria Viñolas ◽  
Laura Mezquita ◽  
...  

Targeted therapies are a new paradigm in lung cancer management. Next-generation sequencing (NGS) techniques have allowed for simultaneous testing of several genes in a rapid and efficient manner; however, there are other molecular diagnostic tools such as the nCounter® Vantage 3D single nucleotide variants (SNVs) solid tumour panel which also offer important benefits regarding sample input and time-to-response, making them very attractive for daily clinical use. This study aimed to test the performance of the Vantage panel in the routine workup of advanced non-squamous non-small cell lung cancer (NSCLC) patients and to validate and compare its outputs with the Oncomine Solid Tumor (OST) panel DNA kit, the standard technique in our institution. Two parallel multiplexed approaches were performed based on DNA NGS and direct digital detection of DNA with nCounter® technology to evaluate SNVs. A total of 42 advanced non-squamous NSCLC patients were prospectively included in the study. Overall, 95% of samples were successfully characterized by both technologies. The Vantage panel accounted for a sensitivity of 95% and a specificity of 82%. In terms of predictive values, the probability of truly presenting the SNV variant when it is detected by the nCounter panel was 82%, whereas the probability of not presenting the SNV variant when it is not detected by the platform was 95%. Finally, Cohen’s Kappa coefficient was 0.76, indicating a substantial correlation grade between OST and Vantage panels. Our results make nCounter an analytically sensitive, practical and cost-effective tool.


2018 ◽  
Vol 120 (2) ◽  
pp. 1924-1931 ◽  
Author(s):  
Mohsen Nikseresht ◽  
Maryam Shahverdi ◽  
Mehdi Dehghani ◽  
Hassan Abidi ◽  
Reza Mahmoudi ◽  
...  

2020 ◽  
Vol 19 ◽  
pp. 117693512094221
Author(s):  
Shahab Bakhtiari ◽  
Sadegh Sulaimany ◽  
Mehrdad Talebi ◽  
Kabmiz Kalhor

Genetic variations such as single nucleotide polymorphisms (SNPs) can cause susceptibility to cancer. Although thousands of genetic variants have been identified to be associated with different cancers, the molecular mechanisms of cancer remain unknown. There is not a particular dataset of relationships between cancer and SNPs, as a bipartite network, for computational analysis and prediction. Link prediction as a computational graph analysis method can help us to gain new insight into the network. In this article, after creating a network between cancer and SNPs using SNPedia and Cancer Research UK databases, we evaluated the computational link prediction methods to foresee new SNP-Cancer relationships. Results show that among the popular scoring methods based on network topology, for relation prediction, the preferential attachment (PA) algorithm is the most robust method according to computational and experimental evidence, and some of its computational predictions are corroborated in recent publications. According to the PA predictions, rs1801394-Non-small cell lung cancer, rs4880-Non-small cell lung cancer, and rs1805794-Colorectal cancer are some of the best probable SNP-Cancer associations that have not yet been mentioned in any published article, and they are the most probable candidates for additional laboratory and validation studies. Also, it is feasible to improve the predicting algorithms to produce new predictions in the future.


Sign in / Sign up

Export Citation Format

Share Document