Copy Number Analysis in Cancer Diagnostic Testing

Tara Spence; Adrian M Dubuc

doi:10.1016/j.cll.2022.05.003

Copy Number Analysis in Cancer Diagnostic Testing

Clin Lab Med. 2022 Sep;42(3):451-468. doi: 10.1016/j.cll.2022.05.003. Epub 2022 Aug 22.

Authors

Tara Spence¹, Adrian M Dubuc²

Affiliations

¹ Cytogenomics Laboratory, Vancouver General Hospital, Jim Pattison South, 899 12th Avenue West, Vancouver, British Columbia, V5Z 1M9, Canada. Electronic address: tara.spence@vch.ca.
² Brigham and Women's Hospital, BWH Center for Advanced Molecular Diagnostics (CAMD), 75 Francis Street, BWH Shapiro Bldg 5th Floor, Boston MA 02115, USA.

PMID: 36150823
DOI: 10.1016/j.cll.2022.05.003

Abstract

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.

Keywords: Clinical oncology; Copy number analysis; Cytogenomics; Genome diagnostics.

Publication types

Review

MeSH terms

DNA Copy Number Variations*
High-Throughput Nucleotide Sequencing
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Neoplasms* / diagnosis
Neoplasms* / genetics