The thrills and agonies of using next-generation sequencing for somatic mutation detection in cancer.

Abstract

Personalized MedicineVol. 11, No. 4 EditorialThe thrills and agonies of using next-generation sequencing for somatic mutation detection in cancerGregory J TsongalisGregory J TsongalisDepartment of Pathology, Geisel School of Medicine at Dartmouth, Hanover, NH, USAandThe Dartmouth Hitchcock Medical Center & Norris Cotton Cancer Center, Lebanon, NH, USAE-mail Address: gregory.j.tsongalis@hitchcock.orgSearch for more papers by this authorPublished Online:18 Aug 2014https://doi.org/10.2217/pme.14.20AboutSectionsView ArticleView Full TextPDF/EPUB ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareShare onFacebookTwitterLinkedInRedditEmail View articleKeywords: cancerclinical testingnext generation sequencingsomatic mutationReferences1 Katsanis SH, Katsanis N. Molecular genetic testing and the future of clinical genomics. Nat. Rev. Genet. 14, 415–426 (2013).Crossref, Medline, CAS, Google Scholar2 Rehm HL, Bale SJ, Bayrak-Toydemir P et al. ACMG clinical laboratory standards for next-generation sequencing. Genet. Med. 15, 733–747 (2013).Crossref, Medline, Google Scholar3 Sims D, Sudbery I, Ilott NE, Heger A, Pontig CP. Sequencing depth and coverage: key considerations in genomic analyses. Nat. Rev. Genet. 15, 121–132 (2014).Crossref, Medline, CAS, Google Scholar4 Goldstein DB, Allen A, Keebler J et al. Sequencing studies in human genetics: design and interpretation. Nat. Rev. Genet. 14, 460–470 (2013).Crossref, Medline, CAS, Google Scholar5 Dondorp WJ, de Wert GM. The thousand dollar genome: an ethical exploration. Eur. J. Hum. Genet. 21, S6–S26 (2013).Crossref, Medline, Google Scholar6 Tsongalis GJ, Peterson JD, de Abreu F et al. Routine use of the ion torrent AmpliSeq™ cancer hotspot panel for identification of clinically actionable somatic mutations. Clin. Chem. Lab. Med. 13, 1–18 (2013).Google Scholar7 Lawrence MS, Stojanov P, Mermel CH et al.Discovery and saturation analysis of cancer genes across 21 tumor types. Nature 505, 495–501 (2014).Crossref, Medline, CAS, Google Scholar8 Beadling C, Neff TL, Heinrich MC et al. Combining highly multiplexed PCR with semi-conductor based sequencing for rapid cancer genotyping. J. Mol. Diagn. 15, 171–176 (2013).Crossref, Medline, CAS, Google Scholar9 Putra J, Kim J, Peterson JD et al. Metastatic alveolar rhabdomyosarcoma to the breast: case report and literature review. J. Pediatric Oncol. (2014) (In Press).Google Scholar10 Stadler ZK, Schrader KA, Vijai J, Robson ME, Offitt K. Cancer genomics and inherited risk. J. Clin. Oncol. 32, 687–698 (2014).Crossref, Medline, CAS, Google Scholar11 Janku F. Tumor heterogeneity in the clinic: is it a real problem? Ther. Adv. Med. Oncol. 6, 43–51 (2014).Crossref, Medline, Google Scholar12 Ricketts CJ, Linehan WM. Intratumoral heterogeneity in kidney cancer. Nat. Genet. 46, 214–215 (2014).Crossref, Medline, CAS, Google Scholar13 Smits AJJ, Kummer JA, de Bruin PC et al. The estimation of tumor cell percentage for molecular testing by pathologists is not accurate. Mod. Pathol. 27, 168–174 (2014).Crossref, Medline, Google ScholarFiguresReferencesRelatedDetails Vol. 11, No. 4 Follow us on social media for the latest updates Metrics Downloaded 75 times History Published online 18 August 2014 Published in print June 2014 Information© Future Medicine LtdKeywordscancerclinical testingnext generation sequencingsomatic mutationFinancial & competing interests disclosureThe author has no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.No writing assistance was utilized in the production of this manuscript.PDF download