Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories
作者： Victoria M Raymond , Stacy W Gray , Sameek Roychowdhury , Steve Joffe , Arul M Chinnaiyan
DOI: 10.1093/JNCI/DJV351
关键词:
摘要: Abstract 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 availability targeted increase. Analysis most informative when paired with germline genomic DNA delineate inherited somatic variants. Although tumor-only analysis remains common methodology for numerous reasons, it identify clinically significant Here, we provide anticipatory guidance points consider laboratories clinicians regarding findings in tumor sequencing.
oup.com
elsevier.com
oxfordjournals.org
sci-hub.se 参考文章(25)
Antonio C Wolff, M Elizabeth H Hammond, David G Hicks, Mitch Dowsett, Lisa M McShane, Kimberly H Allison, Donald C Allred, John MS Bartlett, Michael Bilous, Patrick Fitzgibbons, Wedad Hanna, Robert B Jenkins, Pamela B Mangu, Soonmyung Paik, Edith A Perez, Michael F Press, Patricia A Spears, Gail H Vance, Giuseppe Viale, Daniel F Hayes, None, Recommendations for Human Epidermal Growth Factor Receptor 2 Testing in Breast Cancer: American Society of Clinical Oncology/College of American Pathologists Clinical Practice Guideline Update Journal of Clinical Oncology. ,vol. 31, pp. 3997- 4013 ,(2013) , 10.1200/JCO.2013.50.9984
Armand De Gramont, Sarah Watson, Lee M Ellis, Jordi Rodón, Josep Tabernero, Aimery De Gramont, Stanley R Hamilton, None, Pragmatic issues in biomarker evaluation for targeted therapies in cancer Nature Reviews Clinical Oncology. ,vol. 12, pp. 197- 212 ,(2015) , 10.1038/NRCLINONC.2014.202
Eliezer M. Van Allen, Nikhil Wagle, Mia A. Levy, Clinical Analysis and Interpretation of Cancer Genome Data Journal of Clinical Oncology. ,vol. 31, pp. 1825- 1833 ,(2013) , 10.1200/JCO.2013.48.7215
A. McKenna, M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis, A. Kernytsky, K. Garimella, D. Altshuler, S. Gabriel, M. Daly, M. A. DePristo, The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data Genome Research. ,vol. 20, pp. 1297- 1303 ,(2010) , 10.1101/GR.107524.110
M. Elizabeth H. Hammond, Daniel F. Hayes, Mitch Dowsett, D. Craig Allred, Karen L. Hagerty, Sunil Badve, Patrick L. Fitzgibbons, Glenn Francis, Neil S. Goldstein, Malcolm Hayes, David G. Hicks, Susan Lester, Richard Love, Pamela B. Mangu, Lisa McShane, Keith Miller, C. Kent Osborne, Soonmyung Paik, Jane Perlmutter, Anthony Rhodes, Hironobu Sasano, Jared N. Schwartz, Fred C.G. Sweep, Sheila Taube, Emina Emilia Torlakovic, Paul Valenstein, Giuseppe Viale, Daniel Visscher, Thomas Wheeler, R. Bruce Williams, James L. Wittliff, Antonio C. Wolff, American Society of Clinical Oncology/College of American Pathologists Guideline Recommendations for Immunohistochemical Testing of Estrogen and Progesterone Receptors in Breast Cancer Journal of Clinical Oncology. ,vol. 28, pp. 2784- 2795 ,(2010) , 10.1200/JCO.2009.25.6529
Kristian Cibulskis, Michael S Lawrence, Scott L Carter, Andrey Sivachenko, David Jaffe, Carrie Sougnez, Stacey Gabriel, Matthew Meyerson, Eric S Lander, Gad Getz, Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples Nature Biotechnology. ,vol. 31, pp. 213- 219 ,(2013) , 10.1038/NBT.2514
Yaping Yang, Donna M. Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay, Narayanan Veeraraghavan, Alicia Hawes, Theodore Chiang, Magalie Leduc, Joke Beuten, Jing Zhang, Weimin He, Jennifer Scull, Alecia Willis, Megan Landsverk, William J. Craigen, Mir Reza Bekheirnia, Asbjorg Stray-Pedersen, Pengfei Liu, Shu Wen, Wendy Alcaraz, Hong Cui, Magdalena Walkiewicz, Jeffrey Reid, Matthew Bainbridge, Ankita Patel, Eric Boerwinkle, Arthur L. Beaudet, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng, Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing JAMA. ,vol. 312, pp. 1870- 1879 ,(2014) , 10.1001/JAMA.2014.14601
Siân Jones, Valsamo Anagnostou, Karli Lytle, Sonya Parpart-Li, Monica Nesselbush, David R. Riley, Manish Shukla, Bryan Chesnick, Maura Kadan, Eniko Papp, Kevin G. Galens, Derek Murphy, Theresa Zhang, Lisa Kann, Mark Sausen, Samuel V. Angiuoli, Luis A. Diaz, Victor E. Velculescu, Personalized genomic analyses for cancer mutation discovery and interpretation Science Translational Medicine. ,vol. 7, ,(2015) , 10.1126/SCITRANSLMED.AAA7161
Robert C Green, Jonathan S Berg, Wayne W Grody, Sarah S Kalia, Bruce R Korf, Christa L Martin, Amy L McGuire, Robert L Nussbaum, Julianne M O’Daniel, Kelly E Ormond, Heidi L Rehm, Michael S Watson, Marc S Williams, Leslie G Biesecker, None, ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing Genetics in Medicine. ,vol. 15, pp. 565- 574 ,(2013) , 10.1038/GIM.2013.73
Christopher T. Saunders, Wendy S. W. Wong, Sajani Swamy, Jennifer Becq, Lisa J. Murray, R. Keira Cheetham, Strelka: accurate somatic small-variant calling from sequenced tumor–normal sample pairs Bioinformatics. ,vol. 28, pp. 1811- 1817 ,(2012) , 10.1093/BIOINFORMATICS/BTS271