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J Natl Cancer Inst. 2015 Nov 20;108(4). pii: djv351. doi: 10.1093/jnci/djv351. Print 2016 Apr.

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

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Departments of Internal Medicine (VMR) and Pathology (AMC), University of Michigan, Ann Arbor, MI; Dana-Farber Cancer Institute, Boston, MA (SWG); Harvard Medical School, Boston, MA (SWG); The Ohio State University, Columbus, OH (SR); University of Pennsylvania Perelman School of Medicine, Philadelphia, PA (SJ); Texas Children's Cancer Center, Houston, TX (DWP, SEP); Baylor College of Medicine, Houston, TX (DWP, SEP).


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.

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