Next‐generation sequencing assay in salivary gland cytology: A pilot study

2020 ◽  
Vol 49 (10) ◽  
pp. 1037-1043
Author(s):  
Shuhei Yamamoto ◽  
Yuma Sakamoto ◽  
Satsuki Nakano ◽  
Keiichiro Fujii ◽  
Kaori Ueda ◽  
...  
Keyword(s):  
Salivary Gland ◽  
Next Generation Sequencing ◽  
Pilot Study ◽  
Next Generation ◽  
Generation Sequencing

Targeted Next-Generation Sequencing in Men with Metastatic Prostate Cancer: a Pilot Study

2018 ◽  
Vol 13 (4) ◽  
pp. 495-500 ◽  
Author(s):  
Pedro C. Barata ◽  
Prateek Mendiratta ◽  
Brandie Heald ◽  
Stefan Klek ◽  
Petros Grivas ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Next Generation Sequencing ◽  
Pilot Study ◽  
Metastatic Prostate Cancer ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals A Pilot Study Using Next-Generation Sequencing in Advanced Cancers: Feasibility and Challenges

PLoS ONE ◽  
2013 ◽  
Vol 8 (10) ◽  
pp. e76438 ◽  
Author(s):  
Glen J. Weiss ◽  
Winnie S. Liang ◽  
Michael J. Demeure ◽  
Jeff A. Kiefer ◽  
Galen Hostetter ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Pilot Study ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Next Generation Sequencing in Molecular Diagnosis of Lynch Syndrome – a Pilot Study Using New Stratification Criteria

2018 ◽  
Vol 61 (3) ◽  
pp. 98-102 ◽  
Author(s):  
Ivana Kašubová ◽  
Veronika Holubeková ◽  
Katarína Janíková ◽  
Barbora Váňová ◽  
Zuzana Sňahničanová ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Next Generation Sequencing ◽  
Pilot Study ◽  
Lynch Syndrome ◽  
New Technologies ◽  
Braf V600e ◽  
Sporadic Colorectal Cancer ◽  
Next Generation ◽  
Gene Panel Testing ◽  
Generation Sequencing

The development of the new technologies such as the next-generation sequencing (NGS) makes more accessible the diagnosis of genetically heterogeneous diseases such as Lynch syndrome (LS). LS is one of the most common hereditary form of colorectal cancer. This autosomal dominant inherited disorder is caused by deleterious germline mutations in one of the mismatch repair (MMR) genes – MLH1, MSH2, MSH6 or PMS2, or the deletion in the EPCAM gene. These mutations eventually result in microsatellite instability (MSI), which can be easily tested in tumor tissue. According to the actual recommendations, all patients with CRC that are suspect to have LS, should be offered the MSI testing. When the MSI is positive, these patients should be recommended to genetic counseling. Here we report a pilot study about the application of NGS in the LS diagnosis in patients considered to have sporadic colorectal cancer. The inclusion criteria for the NGS testing were MSI positivity, BRAF V600E and MHL1 methylation negativity. We have used 5 gene amplicon based massive parallel sequencing on MiSeq platform. In one patient, we have identified a new pathogenic mutation in the exon 4 of the MSH6 gene that was previously not described in ClinVar, Human Gene Mutation Database, Ensembl and InSight databases. This mutation was confirmed by the Sanger method. We have shown that the implementation of new criteria for colorectal patients screening are important in clinical praxis and the NGS gene panel testing is suitable for routine laboratory settings.

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