Literature DB >> 24886963

Copy number variants in clinical next-generation sequencing data can define the relationship between simultaneous tumors in an individual patient.

Jennifer K Sehn1, Haley J Abel2, Eric J Duncavage3.   

Abstract

Targeted next-generation sequencing (NGS) cancer panels have become a popular method for the identification of clinically predictive mutations in cancer. Such methods typically detect single nucleotide variants (SNVs) and small insertions/deletions (indels) in known cancer genes and can provide further information regarding diagnosis in challenging surgical pathology cases, as well as identify therapeutic targets and prognostically significant mutations. However, in addition to SNVs and indels, other mutation classes, including copy number variants (CNVs) and translocations, can be simultaneously detected from targeted NGS data. Here, as proof of methods, we present clinical data which demonstrate that targeted NGS panels can separate synchronous liver tumors based on CNV status, in the absence of distinct SNVs and indels. Such CNV-based analysis can be performed without additional cost using existing targeted cancer panel data and publically available software.
Copyright © 2014 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Cancer; Copy number change; Deep sequencing; Metastasis; Molecular diagnostics

Mesh:

Year:  2014        PMID: 24886963     DOI: 10.1016/j.yexmp.2014.05.008

Source DB:  PubMed          Journal:  Exp Mol Pathol        ISSN: 0014-4800            Impact factor:   3.362


  6 in total

1.  Hybrid Capture-Based Tumor Sequencing and Copy Number Analysis to Confirm Origin of Metachronous Metastases in BRCA1-Mutant Cholangiocarcinoma Harboring a Novel YWHAZ-BRAF Fusion.

Authors:  Huat C Lim; Meagan Montesion; Thomas Botton; Eric A Collisson; Sarah E Umetsu; Spencer C Behr; John D Gordan; Phil J Stephens; Robin K Kelley
Journal:  Oncologist       Date:  2018-04-05

2.  Comprehensive Genomic Profiling Aids in Distinguishing Metastatic Recurrence from Second Primary Cancers.

Authors:  Benjamin A Weinberg; Kyle Gowen; Thomas K Lee; Sai-Hong Ignatius Ou; Robert Bristow; Lauren Krill; M Isabel Almira-Suarez; Siraj M Ali; Vincent A Miller; Stephen V Liu; Samuel J Klempner
Journal:  Oncologist       Date:  2017-02-13

3.  A wide spectrum of EGFR mutations in glioblastoma is detected by a single clinical oncology targeted next-generation sequencing panel.

Authors:  Patrick J Cimino; Andy Bredemeyer; Haley J Abel; Eric J Duncavage
Journal:  Exp Mol Pathol       Date:  2015-04-22       Impact factor: 3.362

4.  Protein residues that control the reaction trajectory in S-adenosylmethionine radical enzymes: mutagenesis of asparagine 153 and aspartate 155 in Escherichia coli biotin synthase.

Authors:  Christine E Farrar; Joseph T Jarrett
Journal:  Biochemistry       Date:  2009-03-24       Impact factor: 3.162

5.  affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling.

Authors:  Carles Hernandez-Ferrer; Ines Quintela Garcia; Katharina Danielski; Ángel Carracedo; Luis A Pérez-Jurado; Juan R González
Journal:  BMC Bioinformatics       Date:  2015-05-20       Impact factor: 3.169

6.  A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5.

Authors:  Brian S White; Irena Lanc; Julie O'Neal; Harshath Gupta; Robert S Fulton; Heather Schmidt; Catrina Fronick; Edward A Belter; Mark Fiala; Justin King; Greg J Ahmann; Mary DeRome; Elaine R Mardis; Ravi Vij; John F DiPersio; Joan Levy; Daniel Auclair; Michael H Tomasson
Journal:  Blood Cancer J       Date:  2018-03-21       Impact factor: 11.037

  6 in total

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