Synapse - Whole-genome single-cell copy number profiling from formalin-fixed paraffin-embedded samples

Whole-genome single-cell copy number profiling from formalin-fixed paraffin-embedded samples Journal Article

Authors:	Martelotto, L. G.; Baslan, T.; Kendall, J.; Geyer, F. C.; Burke, K. A.; Spraggon, L.; Piscuoglio, S.; Chadalavada, K.; Nanjangud, G.; Ng, C. K. Y.; Moody, P.; D'Italia, S.; Rodgers, L.; Cox, H.; Da Cruz Paula, A.; Stepansky, A.; Schizas, M.; Wen, H. Y.; King, T. A.; Norton, L.; Weigelt, B.; Hicks, J. B.; Reis-Filho, J. S.
Article Title:	Whole-genome single-cell copy number profiling from formalin-fixed paraffin-embedded samples
Abstract:	A substantial proportion of tumors consist of genotypically distinct subpopulations of cancer cells. This intratumor genetic heterogeneity poses a substantial challenge for the implementation of precision medicine. Single-cell genomics constitutes a powerful approach to resolve complex mixtures of cancer cells by tracing cell lineages and discovering cryptic genetic variations that would otherwise be obscured in tumor bulk analyses. Because of the chemical alterations that result from formalin fixation, single-cell genomic approaches have largely remained limited to fresh or rapidly frozen specimens. Here we describe the development and validation of a robust and accurate methodology to perform whole-genome copy-number profiling of single nuclei obtained from formalin-fixed paraffin-embedded clinical tumor samples. We applied the single-cell sequencing approach described here to study the progression from in situ to invasive breast cancer, which revealed that ductal carcinomas in situ show intratumor genetic heterogeneity at diagnosis and that these lesions may progress to invasive breast cancer through a variety of evolutionary processes. © 2017 The Author(s).
Journal Title:	Nature Medicine
Volume:	23
Issue:	3
ISSN:	1078-8956
Publisher:	Nature Publishing Group
Date Published:	2017-03-01
Start Page:	376
End Page:	385
Language:	English
DOI:	10.1038/nm.4279
PROVIDER:	scopus
PUBMED:	28165479
PMCID:	PMC5608257
DOI/URL:	https://www.scopus.com/inward/record.uri?eid=2-s2.0-85011661149&doi=10.1038%2fnm.4279&partnerID=40&md5=1217669a903efcd606bc1dba3b144b62
Notes:	Article -- Export Date: 4 April 2017 -- Source: Scopus