Faculty Opinions recommendation of High-throughput dynamic BH3 profiling may quickly and accurately predict effective therapies in solid tumors.

Author(s):  
Noam Harpaz ◽  
Alexandros Polydorides
Keyword(s):  
2010 ◽  
Vol 70 (6) ◽  
pp. 2165-2170 ◽  
Author(s):  
Nabil Arrach ◽  
Pui Cheng ◽  
Ming Zhao ◽  
Carlos A. Santiviago ◽  
Robert M. Hoffman ◽  
...  

2017 ◽  
Vol 77 (9) ◽  
pp. 2464-2475 ◽  
Author(s):  
Ryan J. Hartmaier ◽  
Lee A. Albacker ◽  
Juliann Chmielecki ◽  
Mark Bailey ◽  
Jie He ◽  
...  

Author(s):  
М.А. Спектор ◽  
Л.А. Ясько ◽  
А.Е. Друй

Активное внедрение высокопроизводительного секвенирования в клиническую практику требует общего подхода к интерпретации обнаруженных генетических вариантов, в частности, вариантов с соматическим статусом. В 2017 году Ассоциация молекулярной патологии США (AMP), Американская коллегия медицинской генетики и геномики (ACMG), Американское общество клинической онкологии (ASCO) и Коллегия американских патологов (CAP) опубликовали руководство по интерпретации соматических генетических вариантов и выдаче заключений по результатам высокопроизводительного секвенирования опухолевой ДНК. Данный обзор посвящен специфике применения руководства AMP/ACMG/ASCO/CAP для интерпретации результатов генетических исследований детских солидных опухолей. В статье приводятся критерии, на которых основана классификация соматических генетических вариантов, обсуждаются проблемы оценки клинической значимости генетических находок и приводятся примеры классификации генетических вариантов, выявленных в различных типах детских солидных опухолей. Active clinical implementation of high-throughput DNA sequencing requires a common approach to the interpretation of detected genetic variants, including variants with somatic status. In 2017, the United States Association of Molecular Pathology (AMP), the American College of Medical Genetics and Genomics (ACMG), the American Society of Clinical Oncology (ASCO), and the College of American Pathologists (CAP) published the guidelines for interpreting and reporting the somatic genetic variants in cancer identified using high-throughput sequencing analysis. This review focuses on the specific application of the AMP/ACMG/ASCO/CAP guidelines in the field of genetic research on paediatric solid tumors. In particular, the review provides the criteria for classification of somatic genetic variants, discusses the problems of evaluating the clinical significance of genetic findings in paediatric tumors, and provides examples of classification of genetic variants specific for certain types of childhood solid malignancies.


2019 ◽  
Author(s):  
Patrick D. Bhola ◽  
Eman Ahmed ◽  
Jennifer Guerriero ◽  
Ewa Sicinska ◽  
Emily Su ◽  
...  

2009 ◽  
Vol 2 ◽  
pp. BII.S2222 ◽  
Author(s):  
David E. Axelrod ◽  
Naomi Miller ◽  
Judith-Anne W. Chapman

Information about tumors is usually obtained from a single assessment of a tumor sample, performed at some point in the course of the development and progression of the tumor, with patient characteristics being surrogates for natural history context. Differences between cells within individual tumors (intratumor heterogeneity) and between tumors of different patients (intertumor heterogeneity) may mean that a small sample is not representative of the tumor as a whole, particularly for solid tumors which are the focus of this paper. This issue is of increasing importance as high-throughput technologies generate large multi-feature data sets in the areas of genomics, proteomics, and image analysis. Three potential pitfalls in statistical analysis are discussed (sampling, cut-points, and validation) and suggestions are made about how to avoid these pitfalls.


2017 ◽  
Vol 19 (2) ◽  
pp. 255-264 ◽  
Author(s):  
Rajyalakshmi Luthra ◽  
Keyur P. Patel ◽  
Mark J. Routbort ◽  
Russell R. Broaddus ◽  
Jonathan Yau ◽  
...  

2014 ◽  
Vol 14 (2-3) ◽  
pp. 103-117 ◽  
Author(s):  
Rosamaria Pinto ◽  
Simona De Summa ◽  
Daniela Petriella ◽  
Oana Tudoran ◽  
Katia Danza ◽  
...  

2019 ◽  
Author(s):  
Patrick D. Bhola ◽  
Eman Ahmed ◽  
Jennifer Guerriero ◽  
Ewa Sicinska ◽  
Emily Su ◽  
...  

PLoS ONE ◽  
2021 ◽  
Vol 16 (12) ◽  
pp. e0260089
Author(s):  
Jeffrey M. Conroy ◽  
Sarabjot Pabla ◽  
Sean T. Glenn ◽  
R. J. Seager ◽  
Erik Van Roey ◽  
...  

Timely and accurate identification of molecular alterations in solid tumors is essential for proper management of patients with advanced cancers. This has created a need for rapid, scalable comprehensive genomic profiling (CGP) systems that detect an increasing number of therapeutically-relevant variant types and molecular signatures. In this study, we assessed the analytical performance of the TruSight Oncology 500 High-Throughput assay for detection of somatic alterations from formalin-fixed paraffin-embedded tissue specimens. In parallel, we developed supporting software and automated sample preparation systems designed to process up to 70 clinical samples in a single NovaSeq 6000TM sequencing run with a turnaround time of <7 days from specimen receipt to report. The results demonstrate that the scalable assay accurately and reproducibly detects small variants, copy number alterations, microsatellite instability (MSI) and tumor mutational burden (TMB) from 40ng DNA, and multiple gene fusions, including known and unknown partners and splice variants from 20ng RNA. 717 tumor samples and reference materials with previously known alterations in 96 cancer-related genes were sequenced to evaluate assay performance. All variant classes were reliably detected at consistent and reportable variant allele percentages with >99% overall accuracy and precision. Our results demonstrate that the high-throughput CGP assay is a reliable method for accurate detection of molecular alterations in support of precision therapeutics in oncology. The supporting systems and scalable workflow allow for efficient interpretation and prompt reporting of hundreds of patient cancer genomes per week with excellent analytical performance.


Sign in / Sign up

Export Citation Format

Share Document