Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories

Precision oncology holds great potential to improve patient therapies and outcomes. Tumor sequencing is rapidly moving into clinical care as our understanding of the cancer genome and the availability of targeted therapies increase. Analysis of the cancer genome is most informative when paired with...

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Bibliographic Details
Published in:JNCI : Journal of the National Cancer Institute 2016-04, Vol.108 (4), p.1
Main Authors: Raymond, Victoria M, Gray, Stacy W, Roychowdhury, Sameek, Joffe, Steve, Chinnaiyan, Arul M, Parsons, D Williams, Plon, Sharon E
Format: Article
Language:English
Subjects:
Algorithms
Cancer
Deoxyribonucleic acid
DNA
DNA, Neoplasm - analysis
Genetic Predisposition to Disease
Genomes
Genomics
Germ-Line Mutation
High-Throughput Nucleotide Sequencing
Humans
Neoplasms - genetics
Oncology
Tumors
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Summary:Precision oncology holds great potential to improve patient therapies and outcomes. Tumor sequencing is rapidly moving into clinical care as our understanding of the cancer genome and the availability of targeted therapies increase. Analysis of the cancer genome is most informative when paired with germline genomic DNA to delineate inherited and somatic variants. Although tumor-only analysis remains the most common methodology for numerous reasons, it holds the potential to identify clinically significant germline variants. Here, we provide anticipatory guidance and points to consider for laboratories and clinicians regarding the potential for germline findings in tumor sequencing.
ISSN:0027-8874
1460-2105
DOI:10.1093/jnci/djv351