Clinical cancer genomic profiling Review


Authors: Chakravarty, D.; Solit, D. B.
Review Title: Clinical cancer genomic profiling
Abstract: Technological innovation and rapid reduction in sequencing costs have enabled the genomic profiling of hundreds of cancer-associated genes as a component of routine cancer care. Tumour genomic profiling can refine cancer subtype classification, identify which patients are most likely to benefit from systemic therapies and screen for germline variants that influence heritable cancer risk. Here, we discuss ongoing efforts to enhance the clinical utility of tumour genomic profiling by integrating tumour and germline analyses, characterizing allelic context and identifying mutational signatures that influence therapy response. We also discuss the potential clinical utility of more comprehensive whole-genome and whole-transcriptome sequencing and ultra-sensitive cell-free DNA profiling platforms, which allow for minimally invasive, serial analyses of tumour-derived DNA in blood. © 2021, Springer Nature Limited.
Keywords: treatment response; human cell; review; germ line; dna fingerprinting; human; protein fingerprinting; whole transcriptome sequencing
Journal Title: Nature Reviews Genetics
Volume: 22
Issue: 8
ISSN: 1471-0056
Publisher: Nature Publishing Group  
Date Published: 2021-08-01
Start Page: 483
End Page: 501
Language: English
DOI: 10.1038/s41576-021-00338-8
PUBMED: 33762738
PROVIDER: scopus
DOI/URL:
Notes: Review -- Export Date: 1 September 2021 -- Source: Scopus
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  1. David Solit
    779 Solit