Evolving significance of tumor-normal sequencing in cancer care Review


Authors: Mandelker, D.; Ceyhan-Birsoy, O.
Review Title: Evolving significance of tumor-normal sequencing in cancer care
Abstract: Molecular tests assist at various stages of cancer patient management, including providing diagnosis, predicting prognosis, identifying therapeutic targets, and determining hereditary cancer risk. The current testing paradigm involves germline testing in a subset of patients determined to be at high risk for having a hereditary cancer syndrome, and tumor-only sequencing for treatment decisions in advanced cancer patients. A major limitation of tumor-only sequencing is its inability to distinguish germline versus somatic mutations. Tumor-normal sequencing has emerged as a comprehensive analysis for both hereditary cancer predisposition and somatic profiling. Here, we review recent studies involving tumor-normal sequencing, discuss its benefits in clinical care, challenges for its implementation, and novel insights it has provided regarding tumor biology and germline contribution to cancer. © 2019 Elsevier Inc.
Keywords: tumor sequencing; tumor-normal sequencing; hereditary cancer predisposition
Journal Title: Trends in Cancer
Volume: 6
Issue: 1
ISSN: 2405-8025
Publisher: Cell Press  
Date Published: 2020-01-01
Start Page: 31
End Page: 39
Language: English
DOI: 10.1016/j.trecan.2019.11.006
PUBMED: 31952779
PROVIDER: scopus
DOI/URL:
Notes: Source: Scopus
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  1. Diana Lauren Mandelker
    178 Mandelker
  2. Ozge Birsoy
    69 Birsoy