A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing

2015 ◽  
Vol 60 (12) ◽  
pp. 769-776 ◽  
Author(s):  
Huiwen Zhang ◽  
Rui Yang ◽  
Yu Wang ◽  
Jun Ye ◽  
Lianshu Han ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Pilot Study ◽  
Bone Dysplasia ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Gene Testing ◽  
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 Targeted Next-Generation Sequencing on Hirschsprung Disease: A Pilot Study Exploits DNA Pooling

2014 ◽  
Vol 78 (5) ◽  
pp. 381-387 ◽  
Author(s):  
Hongsheng Gui ◽  
Jessie Yunjuan Bao ◽  
Clara Sze-Man Tang ◽  
Man-Ting So ◽  
Diem-Ngoc Ngo ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Pilot Study ◽  
Hirschsprung Disease ◽  
Next Generation ◽  
Dna Pooling ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

Analysis of a large cohort of non-small cell lung cancers submitted for somatic variant analysis demonstrates that targeted next-generation sequencing is fit for purpose as a molecular diagnostic assay in routine practice

2018 ◽  
Vol 71 (11) ◽  
pp. 1001-1006 ◽  
Author(s):  
David Allan Moore ◽  
Kevin Balbi ◽  
Alexander Ingham ◽  
Hendrik-Tobias Arkenau ◽  
Philip Bennett
Keyword(s):  
Next Generation Sequencing ◽  
Single Gene ◽  
Small Cell ◽  
Molecular Diagnostic ◽  
Next Generation ◽  
Small Cell Lung ◽  
Targeted Next Generation Sequencing ◽  
Gene Testing ◽  
The Impact ◽  
Generation Sequencing

AimsTargeted next-generation sequencing (tNGS) is increasingly being adopted as an alternative to single gene testing in some centres. Our aim was to assess the overall fitness and utility of tNGS as a routine clinical test in non-small cell lung cancer (NSCLC).MethodsAll NSCLC cases submitted to a single laboratory for tNGS analysis over a 3-year period were included. Rejection/failure rates and turnaround times were calculated. For reportable cases, data relating to observed genetic changes likely to be driving tumour growth and/or contributing to therapeutic resistance were extracted. The impact of varied referral site practices (tissue processing and sample format submitted) on analytical outcomes was also considered.ResultsA total of 2796 cases were submitted, of which 217 (7.8%) were rejected and 131 (5.1%) failed. The median turnaround time was seven working days. Of 2448 reported cases, KRAS, EGFR or other recognised driver mutations were observed in 35%, 17% and 5.4%, respectively. Of the remaining cases, 3.5% demonstrated significant incidental evidence of gene amplification. In 15% of EGFR-driven cases, evidence of an EGFR tyrosine kinase inhibitor resistance mechanism was observed. Potential concerns around the provision of slides or precut ‘rolls’ only (cf, formalin fixed paraffin embedded (FFPE) tissue blocks) as standard practice by certain referral sites were identified.ConclusionsA tNGS panel approach is practically achievable, with acceptable success rates and turnaround times, in the context of a routine clinical service. Furthermore, it provides additional clinically and analytically relevant information, which is not available from single gene testing alone.

Pilot study of clinical targeted next generation sequencing for prostate cancer: Consequences for treatment and genetic counseling.

2016 ◽  
Vol 34 (2_suppl) ◽  
pp. 251-251
Author(s):  
Heather H. Cheng ◽  
Nola Klemfuss ◽  
Robert B. Montgomery ◽  
Celestia S. Higano ◽  
Michael Thomas Schweizer ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Clinical Trial ◽  
Next Generation Sequencing ◽  
Pilot Study ◽  
Germline Mutations ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Targeted Ngs ◽  
High Penetrance ◽  
Generation Sequencing

251 Background: Targeted next generation sequencing (NGS) panels for identification of actionable mutations are increasingly used in oncology for therapeutic decision-making, but have yet to be widely used for prostate cancer.To determine the utility of applying a targeted next generation sequencing to prostate cancer management, we conducted a pilot study using the clinical molecular diagnostic assay, UW-OncoPlex, on primary and metastatic tumors from patients with prostate cancer. Methods: Patients receiving treatment for prostate cancer by a medical oncologist were eligible. After providing informed consent, tumor DNA was extracted from formalin-fixed, paraffin-embedded (FFPE)primary tumors and/or metastatic biopsies. Extracted DNA was analyzed using UW-OncoPlex, a targeted NGS panel designed to assess genomic alterations in 234 cancer-associated genes (PMID: 24189654). Results were discussed at a monthly multidisciplinary precision tumor board prior to communicating results to patients. Results: Forty patients consented to the study and 31 (78%) had reportable results. Findings included frequently observed prostate cancer genomic aberrations, including: TMPRSS2-ERG fusions and copy-number alterations of PTEN, TP53, FOXA1, AR, and SPOP. We also observed potentially actionable alterations in BRAF, MAP2K1 (MEK1), PIK3R1, MET, FGFR1, and FGFR3, which inform future treatment and clinical trial considerations. Notably, 8/31 (25%) patients had suspected high penetrance germline mutations, including in BRCA2 (N = 3), TP53 (N = 2), ATM (N = 1), and CHEK2 (N = 2). These 8 individuals were referred to medical genetics and 7 of 8 mutations were confirmed to be germline. One patient was found to have a hypermutated phenotype associated with bi-allelic MSH6 mutation and microsatellite instability. Conclusions: Targeted NGS panel testing may be useful in informing future treatment approaches and clinical trial selection for patients with prostate cancer. In addition, we observed a high proportion of cases with suspected high-penetrance germline mutations and immediate actionability through referral to medical genetics.

scholarly journals A Pilot Study of Clinical Targeted Next Generation Sequencing for Prostate Cancer: Consequences for Treatment and Genetic Counseling

The Prostate ◽  
2016 ◽  
Vol 76 (14) ◽  
pp. 1303-1311 ◽  
Author(s):  
Heather H. Cheng ◽  
Nola Klemfuss ◽  
Bruce Montgomery ◽  
Celestia S. Higano ◽  
Michael T. Schweizer ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Genetic Counseling ◽  
Next Generation Sequencing ◽  
Pilot Study ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals AB006. Molecular profiling of genetic alterations in thymic epithelial tumors by targeted next generation sequencing: a pilot study

Mediastinum ◽  
2021 ◽  
Vol 5 ◽  
pp. AB006-AB006
Author(s):  
Adam Szpechcinski ◽  
Malgorzata Szolkowska ◽  
Sebastian Winiarski ◽  
Urszula Lechowicz ◽  
Piotr Wisniewski ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Pilot Study ◽  
Molecular Profiling ◽  
Genetic Alterations ◽  
Next Generation ◽  
Thymic Epithelial Tumors ◽  
Targeted Next Generation Sequencing ◽  
Epithelial Tumors ◽  
Generation Sequencing
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