Whole-exome sequencing and clinical interpretation of FFPE tumor samples to guide precision cancer medicine

DSpace/Manakin Repository

Whole-exome sequencing and clinical interpretation of FFPE tumor samples to guide precision cancer medicine

Citable link to this page

 

 
Title: Whole-exome sequencing and clinical interpretation of FFPE tumor samples to guide precision cancer medicine
Author: Allen, Eliezer M. Van; Wagle, Nikhil; Stojanov, Petar; Perrin, Danielle L.; Cibulskis, Kristian; Marlow, Sara; Jane-Valbuena, Judit; Friedrich, Dennis C.; Kryukov, Gregory; Carter, Scott L.; McKenna, Aaron; Sivachenko, Andrey; Rosenberg, Mara; Kiezun, Adam; Voet, Douglas; Lawrence, Michael; Lichtenstein, Lee T.; Gentry, Jeff G.; Huang, Franklin W.; Fostel, Jennifer; Farlow, Deborah; Barbie, David; Gandhi, Leena; Lander, Eric S.; Gray, Stacy W.; Joffe, Steven; Janne, Pasi; Garber, Judy; MacConaill, Laura; Lindeman, Neal; Rollins, Barrett; Kantoff, Philip; Fisher, Sheila A.; Gabriel, Stacey; Getz, Gad; Garraway, Levi A.

Note: Order does not necessarily reflect citation order of authors.

Citation: Allen, E. M. V., N. Wagle, P. Stojanov, D. L. Perrin, K. Cibulskis, S. Marlow, J. Jane-Valbuena, et al. 2013. “Whole-exome sequencing and clinical interpretation of FFPE tumor samples to guide precision cancer medicine.” Nature medicine 20 (6): 682-688. doi:10.1038/nm.3559. http://dx.doi.org/10.1038/nm.3559.
Full Text & Related Files:
Abstract: Translating whole exome sequencing (WES) for prospective clinical use may impact the care of cancer patients; however, multiple innovations are necessary for clinical implementation. These include: (1) rapid and robust WES from formalin-fixed paraffin embedded (FFPE) tumor tissue, (2) analytical output similar to data from frozen samples, and (3) clinical interpretation of WES data for prospective use. Here, we describe a prospective clinical WES platform for archival FFPE tumor samples. The platform employs computational methods for effective clinical analysis and interpretation of WES data. When applied retrospectively to 511 exomes, the interpretative framework revealed a “long tail” of somatic alterations in clinically important genes. Prospective application of this approach identified clinically relevant alterations in 15/16 patients. In one patient, previously undetected findings guided clinical trial enrollment leading to an objective clinical response. Overall, this methodology may inform the widespread implementation of precision cancer medicine.
Published Version: doi:10.1038/nm.3559
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4048335/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:13581165
Downloads of this work:

Show full Dublin Core record

This item appears in the following Collection(s)

 
 

Search DASH


Advanced Search
 
 

Submitters