PMID- 36150823
OWN - NLM
STAT- MEDLINE
DCOM- 20220928
LR  - 20221018
IS  - 1557-9832 (Electronic)
IS  - 0272-2712 (Linking)
VI  - 42
IP  - 3
DP  - 2022 Sep
TI  - Copy Number Analysis in Cancer Diagnostic Testing.
PG  - 451-468
LID - S0272-2712(22)00032-4 [pii]
LID - 10.1016/j.cll.2022.05.003 [doi]
AB  - Accurate detection of copy number alterations (CNAs) has become increasingly 
      important in clinical oncology for the purpose of diagnosis, prognostication, and 
      disease management. Cytogenetic approaches for the detection of CNAs, including 
      karyotype, fluorescence in situ hybridization (FISH), and chromosomal microarray, 
      remain mainstays in clinical laboratories. Yet, with rapidly decreasing costs and 
      improved accuracy of CNA detection using emerging technologies such as 
      next-generation sequencing and optical genome mapping, we are approaching a new 
      era of cytogenomics and molecular oncology. The aim of this review is to describe 
      the benefits and limitations associated with the routine clinical application of 
      available classic, emerging, and projected future technologies for the detection 
      of CNAs in oncology.
CI  - Crown Copyright (c) 2022. Published by Elsevier Inc. All rights reserved.
FAU - Spence, Tara
AU  - Spence T
AD  - Cytogenomics Laboratory, Vancouver General Hospital, Jim Pattison South, 899 12th 
      Avenue West, Vancouver, British Columbia, V5Z 1M9, Canada. Electronic address: 
      tara.spence@vch.ca.
FAU - Dubuc, Adrian M
AU  - Dubuc AM
AD  - Brigham and Women's Hospital, BWH Center for Advanced Molecular Diagnostics 
      (CAMD), 75 Francis Street, BWH Shapiro Bldg 5th Floor, Boston MA 02115, USA.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20220822
PL  - United States
TA  - Clin Lab Med
JT  - Clinics in laboratory medicine
JID - 8100174
SB  - IM
MH  - *DNA Copy Number Variations
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - *Neoplasms/diagnosis/genetics
OTO - NOTNLM
OT  - Clinical oncology
OT  - Copy number analysis
OT  - Cytogenomics
OT  - Genome diagnostics
COIS- Disclosure The authors have nothing to disclose.
EDAT- 2022/09/24 06:00
MHDA- 2022/09/28 06:00
CRDT- 2022/09/23 21:06
PHST- 2022/09/23 21:06 [entrez]
PHST- 2022/09/24 06:00 [pubmed]
PHST- 2022/09/28 06:00 [medline]
AID - S0272-2712(22)00032-4 [pii]
AID - 10.1016/j.cll.2022.05.003 [doi]
PST - ppublish
SO  - Clin Lab Med. 2022 Sep;42(3):451-468. doi: 10.1016/j.cll.2022.05.003. Epub 2022 
      Aug 22.