{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T21:18:36Z","timestamp":1790716716012,"version":"4.1.0"},"publisher-location":"Cham","reference-count":99,"publisher":"Springer International Publishing","isbn-type":[{"value":"9783030240998","type":"print"},{"value":"9783030241001","type":"electronic"}],"license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019]]},"DOI":"10.1007\/978-3-030-24100-1_2","type":"book-chapter","created":{"date-parts":[[2019,11,11]],"date-time":"2019-11-11T11:03:33Z","timestamp":1573470213000},"page":"9-30","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":201,"title":["Next Generation Sequencing (NGS): A Revolutionary Technology in Pharmacogenomics and Personalized Medicine in Cancer"],"prefix":"10.1007","author":[{"given":"Stefania","family":"Morganti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Tarantino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Ferraro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"D\u2019Amico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno Achutti","family":"Duso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Curigliano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,11,12]]},"reference":[{"key":"2_CR1","doi-asserted-by":"publisher","first-page":"1546","DOI":"10.1126\/science.1235122","volume":"339","author":"B Vogelstein","year":"2013","unstructured":"Vogelstein B et al (2013) Cancer genome landscapes. Science (80-) 339:1546\u20131558","journal-title":"Science (80-)"},{"key":"2_CR2","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1038\/nrc1299","volume":"4","author":"PA Futreal","year":"2004","unstructured":"Futreal PA et al (2004) A census of human cancer genes. Nat Rev Cancer 4:177\u2013183","journal-title":"Nat Rev Cancer"},{"key":"2_CR3","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1016\/S0092-8674(00)81333-1","volume":"87","author":"KW Kinzler","year":"1996","unstructured":"Kinzler KW, Vogelstein B (1996) Lessons from hereditary colorectal cancer. Cell 87:159\u2013170","journal-title":"Cell"},{"key":"2_CR4","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1016\/S1367-5931(03)00082-6","volume":"7","author":"OM Fischer","year":"2003","unstructured":"Fischer OM, Streit S, Hart S, Ullrich A (2003) Beyond herceptin and gleevec. Curr Opin Chem Biol 7:490\u2013495","journal-title":"Curr Opin Chem Biol"},{"key":"2_CR5","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1038\/526029a","volume":"526","author":"ED Green","year":"2015","unstructured":"Green ED, Watson JD, Collins FS (2015) Human genome project: twenty-five years of big biology. Nature 526:29\u201331","journal-title":"Nature"},{"key":"2_CR6","doi-asserted-by":"publisher","first-page":"68","DOI":"10.5114\/wo.2014.47136","volume":"1A","author":"K Tomczak","year":"2015","unstructured":"Tomczak K, Czerwi\u0144ska P, Wiznerowicz M (2015) The Cancer Genome Atlas (TCGA): an immeasurable source of knowledge. Wsp\u00f3\u0142czesna Onkol 1A:68\u201377","journal-title":"Wsp\u00f3\u0142czesna Onkol"},{"key":"2_CR7","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1038\/nature08658","volume":"463","author":"ED Pleasance","year":"2010","unstructured":"Pleasance ED et al (2010) A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 463:191\u2013196","journal-title":"Nature"},{"key":"2_CR8","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1038\/s41698-017-0016-z","volume":"1","author":"SH Shin","year":"2017","unstructured":"Shin SH, Bode AM, Dong Z (2017) Precision medicine: the foundation of future cancer therapeutics. NPJ Precis Oncol 1:12","journal-title":"NPJ Precis Oncol"},{"key":"2_CR9","first-page":"38","volume":"81","author":"MCB Mendoza","year":"2010","unstructured":"Mendoza MCB (2010) HIM and the path to personalized medicine. J AHIMA 81:38\u201342.; quiz 43","journal-title":"J AHIMA"},{"key":"2_CR10","first-page":"689","volume":"62","author":"J Gao","year":"2016","unstructured":"Gao J et\u00a0al (2016) Comparison of next-generation sequencing, quantitative PCR, and sanger sequencing for mutation profiling of EGFR, KRAS, PIK3CA and BRAF in clinical lung tumors. Clin Lab 62:689\u2013696","journal-title":"Clin Lab"},{"key":"2_CR11","doi-asserted-by":"publisher","first-page":"2304","DOI":"10.1093\/annonc\/mdu480","volume":"25","author":"M Ignatiadis","year":"2014","unstructured":"Ignatiadis M, Dawson S-J (2014) Circulating tumor cells and circulating tumor DNA for precision medicine: dream or reality? Ann Oncol 25:2304\u20132313","journal-title":"Ann Oncol"},{"key":"2_CR12","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1093\/annonc\/mdx766","volume":"29","author":"M Yang","year":"2018","unstructured":"Yang M et al (2018) Incorporating blood-based liquid biopsy information into cancer staging: time for a TNMB system? Ann Oncol 29:311\u2013323","journal-title":"Ann Oncol"},{"key":"2_CR13","doi-asserted-by":"publisher","first-page":"5463","DOI":"10.1073\/pnas.74.12.5463","volume":"74","author":"F Sanger","year":"1977","unstructured":"Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci. U S A 74:5463\u20135467","journal-title":"Proc Natl Acad Sci. U S A"},{"key":"2_CR14","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1038\/nature03959","volume":"437","author":"M Margulies","year":"2005","unstructured":"Margulies M et al (2005) Genome sequencing in microfabricated high-density picolitre reactors. Nature 437:376\u2013380","journal-title":"Nature"},{"key":"2_CR15","unstructured":"Illumina | Sequencing and array-based solutions for genetic research. Available at: https:\/\/emea.illumina.com\/ . Accessed 15 Apr 2018"},{"key":"2_CR16","unstructured":"Ion Torrent. Available at: https:\/\/www.thermofisher.com\/it\/en\/home\/brands\/ion-torrent.html . Accessed 15 Apr 2018"},{"key":"2_CR17","unstructured":"SOLiD\u00ae Next-Generation Sequencing. Available at https:\/\/www.thermofisher.com\/it\/en\/home\/life-science\/sequencing\/next-generation-sequencing\/solid-next-generation-sequencing\/solid-next-generation-sequencing-systems-reagents-accessories.html . Accessed 15 Apr 2018"},{"key":"2_CR18","unstructured":"PacBio. Available at: https:\/\/www.pacb.com\/ . Accessed: 15 Apr 2018"},{"key":"2_CR19","unstructured":"Oxford Nanopore Technologies. Available at: https:\/\/nanoporetech.com\/ . Accessed: 15 Apr 2018"},{"key":"2_CR20","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1038\/nmeth.2642","volume":"10","author":"A Gonzalez-Perez","year":"2013","unstructured":"Gonzalez-Perez A et al (2013) Computational approaches to identify functional genetic variants in cancer genomes. Nat Methods 10:723\u2013729","journal-title":"Nat Methods"},{"key":"2_CR21","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/gm524","volume":"6","author":"BJ Raphael","year":"2014","unstructured":"Raphael BJ, Dobson JR, Oesper L, Vandin F (2014) Identifying driver mutations in sequenced cancer genomes: computational approaches to enable precision medicine. Genome Med 6:5","journal-title":"Genome Med"},{"key":"2_CR22","doi-asserted-by":"publisher","first-page":"556","DOI":"10.1038\/nrg3767","volume":"15","author":"L Ding","year":"2014","unstructured":"Ding L, Wendl MC, McMichael JF, Raphael BJ (2014) Expanding the computational toolbox for mining cancer genomes. Nat Rev Genet 15:556\u2013570","journal-title":"Nat Rev Genet"},{"key":"2_CR23","doi-asserted-by":"publisher","first-page":"1443","DOI":"10.1093\/annonc\/mdw192","volume":"27","author":"C Swanton","year":"2016","unstructured":"Swanton C et al (2016) Consensus on precision medicine for metastatic cancers: a report from the MAP conference. Ann Oncol 27:1443\u20131448","journal-title":"Ann Oncol"},{"key":"2_CR24","doi-asserted-by":"publisher","first-page":"1681","DOI":"10.1093\/annonc\/mdu145","volume":"25","author":"KM Kerr","year":"2014","unstructured":"Kerr KM et al (2014) Second ESMO consensus conference on lung cancer: pathology and molecular biomarkers for non-small-cell lung cancer. Ann Oncol 25:1681\u20131690","journal-title":"Ann Oncol"},{"key":"2_CR25","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1056\/NEJMoa1612674","volume":"376","author":"TS Mok","year":"2017","unstructured":"Mok TS et al (2017) Osimertinib or platinum-pemetrexed in EGFR T790M-positive lung cancer. N Engl J Med 376:629\u2013640","journal-title":"N Engl J Med"},{"key":"2_CR26","doi-asserted-by":"publisher","first-page":"313ra182","DOI":"10.1126\/scitranslmed.aac7551","volume":"7","author":"G Schiavon","year":"2015","unstructured":"Schiavon G et al (2015) Analysis of ESR1 mutation in circulating tumor DNA demonstrates evolution during therapy for metastatic breast cancer. Sci Transl Med 7:313ra182\u2013313ra182","journal-title":"Sci Transl Med"},{"key":"2_CR27","doi-asserted-by":"publisher","first-page":"1310","DOI":"10.1001\/jamaoncol.2016.1279","volume":"2","author":"S Chandarlapaty","year":"2016","unstructured":"Chandarlapaty S et al (2016) Prevalence of ESR1 mutations in cell-free DNA and outcomes in metastatic breast cancer: a secondary analysis of the BOLERO-2 clinical trial. JAMA Oncol 2:1310\u20131315","journal-title":"JAMA Oncol"},{"key":"2_CR28","doi-asserted-by":"publisher","first-page":"11579","DOI":"10.1038\/ncomms11579","volume":"7","author":"JM Spoerke","year":"2016","unstructured":"Spoerke JM et al (2016) Heterogeneity and clinical significance of ESR1 mutations in ER-positive metastatic breast cancer patients receiving fulvestrant. Nat Commun 7:11579","journal-title":"Nat Commun"},{"key":"2_CR29","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1016\/S1470-2045(15)00613-0","volume":"17","author":"M Cristofanilli","year":"2016","unstructured":"Cristofanilli M et al (2016) Fulvestrant plus palbociclib versus fulvestrant plus placebo for treatment of hormone-receptor-positive, HER2-negative metastatic breast cancer that progressed on previous endocrine therapy (PALOMA-3): final analysis of the multicentre, double-blind, phas. Lancet Oncol 17:425\u2013439","journal-title":"Lancet Oncol"},{"key":"2_CR30","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1200\/JCO.2012.43.3755","volume":"31","author":"JD Hainsworth","year":"2013","unstructured":"Hainsworth JD et al (2013) Molecular gene expression profiling to predict the tissue of origin and direct site-specific therapy in patients with carcinoma of unknown primary site: a prospective trial of the Sarah Cannon Research Institute. J Clin Oncol 31:217\u2013223","journal-title":"J Clin Oncol"},{"key":"2_CR31","doi-asserted-by":"publisher","first-page":"3015","DOI":"10.1093\/annonc\/mdx545","volume":"28","author":"AM Varghese","year":"2017","unstructured":"Varghese AM et al (2017) Clinical and molecular characterization of patients with cancer of unknown primary in the modern era. Ann Oncol 28:3015\u20133021","journal-title":"Ann Oncol"},{"key":"2_CR32","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1056\/NEJMoa1714448","volume":"378","author":"A Drilon","year":"2018","unstructured":"Drilon A et al (2018) Efficacy of larotrectinib in TRK fusion\u2013positive cancers in adults and children. N Engl J Med 378:731\u2013739","journal-title":"N Engl J Med"},{"key":"2_CR33","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1016\/j.tig.2012.07.001","volume":"28","author":"D Urbach","year":"2012","unstructured":"Urbach D, Lupien M, Karagas MR, Moore JH (2012) Cancer heterogeneity: origins and implications for genetic association studies. Trends Genet 28:538\u2013543","journal-title":"Trends Genet"},{"key":"2_CR34","doi-asserted-by":"publisher","first-page":"366","DOI":"10.3389\/fonc.2014.00366","volume":"4","author":"MJ Gerdes","year":"2014","unstructured":"Gerdes MJ et al (2014) Emerging understanding of multiscale tumor heterogeneity. Front Oncol 4:366","journal-title":"Front Oncol"},{"key":"2_CR35","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1067\/mcp.2001.113989","volume":"69","author":"AJ Atkinson","year":"2001","unstructured":"Atkinson AJ et al (2001) Biomarkers and surrogate endpoints: preferred definitions and conceptual framework. Clin Pharmacol Ther 69:89\u201395","journal-title":"Clin Pharmacol Ther"},{"key":"2_CR36","doi-asserted-by":"publisher","first-page":"2598","DOI":"10.1158\/1535-7163.MCT-17-0386","volume":"16","author":"AM Goodman","year":"2017","unstructured":"Goodman AM et al (2017) Tumor mutational burden as an independent predictor of response to immunotherapy in diverse cancers. Mol Cancer Ther 16:2598\u20132608","journal-title":"Mol Cancer Ther"},{"key":"2_CR37","first-page":"409","volume":"357","author":"DT Le","year":"2017","unstructured":"Le DT et al (2017) HHS Public Access 357:409\u2013413","journal-title":"HHS Public Access"},{"key":"2_CR38","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/0092-8674(83)90331-8","volume":"33","author":"JW Szostak","year":"1983","unstructured":"Szostak JW, Orr-Weaver TL, Rothstein RJ, Stahl FW (1983) The double-strand-break repair model for recombination. Cell 33:25\u201335","journal-title":"Cell"},{"key":"2_CR39","doi-asserted-by":"publisher","first-page":"a012740","DOI":"10.1101\/cshperspect.a012740","volume":"5","author":"M Jasin","year":"2013","unstructured":"Jasin M, Rothstein R (2013) Repair of strand breaks by homologous recombination. Cold Spring Harb Perspect Biol 5:a012740","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"2_CR40","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1016\/S1097-2765(00)80202-6","volume":"4","author":"ME Moynahan","year":"1999","unstructured":"Moynahan ME, Chiu JW, Koller BH, Jasin M (1999) Brca1 controls homology-directed DNA repair. Mol Cell 4:511\u2013518","journal-title":"Mol Cell"},{"key":"2_CR41","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1016\/S1097-2765(01)00174-5","volume":"7","author":"ME Moynahan","year":"2001","unstructured":"Moynahan ME, Pierce AJ, Jasin M (2001) BRCA2 is required for homology-directed repair of chromosomal breaks. Mol Cell 7:263\u2013272","journal-title":"Mol Cell"},{"key":"2_CR42","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1016\/j.molcel.2006.05.022","volume":"22","author":"B Xia","year":"2006","unstructured":"Xia B et al (2006) Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell 22:719\u2013729","journal-title":"Mol Cell"},{"key":"2_CR43","doi-asserted-by":"publisher","first-page":"8109","DOI":"10.1158\/0008-5472.CAN-06-0140","volume":"66","author":"N McCabe","year":"2006","unstructured":"McCabe N et al (2006) Deficiency in the repair of DNA damage by homologous recombination and sensitivity to poly(ADP-ribose) polymerase inhibition. Cancer Res 66:8109\u20138115","journal-title":"Cancer Res"},{"key":"2_CR44","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/ncb3452","volume":"19","author":"N Hustedt","year":"2017","unstructured":"Hustedt N, Durocher D (2017) The control of DNA repair by the cell cycle. Nat.Cell Biol 19:1\u20139","journal-title":"Nat.Cell Biol"},{"key":"2_CR45","doi-asserted-by":"publisher","first-page":"3764","DOI":"10.1158\/1078-0432.CCR-15-2477","volume":"22","author":"ML Telli","year":"2016","unstructured":"Telli ML et al (2016) Homologous recombination deficiency (HRD) score predicts response to platinum-containing neoadjuvant chemotherapy in patients with triple-negative breast cancer. Clin Cancer Res 22:3764\u20133773","journal-title":"Clin Cancer Res"},{"key":"2_CR46","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1038\/nature14169","volume":"518","author":"N Waddell","year":"2015","unstructured":"Waddell N et al (2015) Whole genomes redefine the mutational landscape of pancreatic cancer. Nature 518:495\u2013501","journal-title":"Nature"},{"issue":"12","key":"2_CR47","doi-asserted-by":"publisher","first-page":"1121","DOI":"10.1016\/j.molmed.2017.10.007","volume":"23","author":"Grainne M. O\u2019Kane","year":"2017","unstructured":"O\u2019Kane GM, Connor AA, Gallinger S (2017) Characterization, detection, and treatment approaches for homologous recombination deficiency in cancer. Trends Mol Med. https:\/\/doi.org\/10.1016\/j.molmed.2017.10.007","journal-title":"Trends in Molecular Medicine"},{"key":"2_CR48","doi-asserted-by":"publisher","first-page":"816","DOI":"10.1126\/science.8484122","volume":"260","author":"SN Thibodeau","year":"1993","unstructured":"Thibodeau SN, Bren G, Schaid D (1993) Microsatellite instability in cancer of the proximal colon. Science (80) 260:816\u2013819","journal-title":"Science (80)"},{"key":"2_CR49","doi-asserted-by":"publisher","first-page":"1535","DOI":"10.1016\/0016-5085(93)90368-M","volume":"104","author":"HT Lynch","year":"1993","unstructured":"Lynch HT et al (1993) Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology 104:1535\u20131549","journal-title":"Gastroenterology"},{"key":"2_CR50","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1038\/sj.bjc.6690676","volume":"81","author":"S Salahshor","year":"1999","unstructured":"Salahshor S et al (1999) Microsatellite instability in sporadic colorectal cancer is not an independent prognostic factor. Br J Cancer 81:190\u2013193","journal-title":"Br J Cancer"},{"key":"2_CR51","doi-asserted-by":"publisher","first-page":"6809","DOI":"10.3748\/wjg.v20.i22.6809","volume":"20","author":"Z Saridaki","year":"2014","unstructured":"Saridaki Z, Souglakos J, Georgoulias V (2014) Prognostic and predictive significance of MSI in stages II\/III colon cancer. World J Gastroenterol 20:6809\u20136814","journal-title":"World J Gastroenterol"},{"key":"2_CR52","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1126\/science.aan6733","volume":"357","author":"DT Le","year":"2017","unstructured":"Le DT et al (2017) Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. Science 357:409\u2013413","journal-title":"Science"},{"key":"2_CR53","doi-asserted-by":"publisher","first-page":"46","DOI":"10.3390\/genes6010046","volume":"6","author":"C Gan","year":"2015","unstructured":"Gan C et al (2015) Applicability of next generation sequencing technology in microsatellite instability testing. Genes (Basel) 6:46\u201359","journal-title":"Genes (Basel)"},{"key":"2_CR54","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13073-017-0424-2","volume":"9","author":"ZR Chalmers","year":"2017","unstructured":"Chalmers ZR et al (2017) Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden. Genome Med 9:1\u201314","journal-title":"Genome Med"},{"key":"2_CR55","doi-asserted-by":"publisher","first-page":"2189","DOI":"10.1056\/NEJMoa1406498","volume":"371","author":"A Snyder","year":"2014","unstructured":"Snyder A et al (2014) Genetic basis for clinical response to CTLA-4 blockade in melanoma. N Engl J Med 371:2189\u20132199","journal-title":"N Engl J Med"},{"key":"2_CR56","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1126\/science.aaa1348","volume":"348","author":"NA Rizvi","year":"2016","unstructured":"Rizvi NA et al (2016) Mutational landscape determines sensitivity to PD-1 blockade in non\u2013small cell lung cancer. Science (80-.) 348:124\u2013128","journal-title":"Science (80-.)"},{"key":"2_CR57","doi-asserted-by":"publisher","first-page":"1909","DOI":"10.1016\/S0140-6736(16)00561-4","volume":"387","author":"JE Rosenberg","year":"2016","unstructured":"Rosenberg JE et al (2016) Atezolizumab in patients with locally advanced and metastatic urothelial carcinoma who have progressed following treatment with platinum-based chemotherapy: A single-arm, multicentre, phase 2 trial. Lancet 387:1909\u20131920","journal-title":"Lancet"},{"key":"2_CR58","doi-asserted-by":"publisher","first-page":"959","DOI":"10.1158\/2326-6066.CIR-16-0143","volume":"4","author":"DB Johnson","year":"2016","unstructured":"Johnson DB et al (2016) Targeted Next Generation Sequencing Identifies Markers of Response to PD-1 Blockade. Cancer Immunol Res 4:959\u2013967","journal-title":"Cancer Immunol Res"},{"key":"2_CR59","doi-asserted-by":"publisher","first-page":"2005","DOI":"10.1056\/NEJMoa1510764","volume":"373","author":"JA Sparano","year":"2015","unstructured":"Sparano JA et al (2015) Prospective validation of a 21-gene expression assay in breast cancer. N Engl J Med 373:2005\u20132014","journal-title":"N Engl J Med"},{"key":"2_CR60","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1016\/j.molonc.2007.10.004","volume":"1","author":"F Cardoso","year":"2007","unstructured":"Cardoso F, Piccart-Gebhart M, Veer LV, Rutgers E, TRANSBIG Consortium (2007) The MINDACT trial: the first prospective clinical validation of a genomic tool. Mol Oncol 1:246\u2013251","journal-title":"Mol Oncol"},{"key":"2_CR61","doi-asserted-by":"publisher","first-page":"1327","DOI":"10.6004\/jnccn.2013.0157","volume":"11","author":"S O\u2019Brien","year":"2013","unstructured":"O\u2019Brien S et al (2013) Chronic myelogenous leukemia, version 1.2014. J Natl Compr Cancer Netw 11:1327\u20131340","journal-title":"J Natl Compr Cancer Netw"},{"key":"2_CR62","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1016\/j.lungcan.2013.07.025","volume":"82","author":"LA Pikor","year":"2013","unstructured":"Pikor LA, Ramnarine VR, Lam S, Lam WL (2013) Genetic alterations defining NSCLC subtypes and their therapeutic implications. Lung Cancer 82:179\u2013189","journal-title":"Lung Cancer"},{"key":"2_CR63","unstructured":"Brinkmann K et al Plasma-based diagnostics for detection of EML4-ALK fusion transcripts in NSCLC patients"},{"issue":"4","key":"2_CR64","doi-asserted-by":"publisher","first-page":"950","DOI":"10.3892\/ijmm.2015.2103","volume":"35","author":"GAETANA GAMBINO","year":"2015","unstructured":"Gambino G, Tancredi M, Falaschi E, Aretini P, Caligo MA (2015) Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and\/or ovarian cancer who tested negative for pathogenic mutations. Int J Mol Med 35:950\u2013956","journal-title":"International Journal of Molecular Medicine"},{"key":"2_CR65","doi-asserted-by":"publisher","first-page":"5469","DOI":"10.1158\/0008-5472.CAN-08-0594","volume":"68","author":"SM Dehm","year":"2008","unstructured":"Dehm SM, Schmidt LJ, Heemers HV, Vessella RL, Tindall DJ (2008) Splicing of a novel androgen receptor exon generates a constitutively active androgen receptor that mediates prostate cancer therapy resistance. Cancer Res 68:5469\u20135477","journal-title":"Cancer Res"},{"key":"2_CR66","doi-asserted-by":"publisher","first-page":"1028","DOI":"10.1056\/NEJMoa1315815","volume":"371","author":"ES Antonarakis","year":"2014","unstructured":"Antonarakis ES et al (2014) AR-V7 and resistance to enzalutamide and abiraterone in prostate cancer. N Engl J Med 371:1028\u20131038","journal-title":"N Engl J Med"},{"key":"2_CR67","doi-asserted-by":"publisher","first-page":"1509","DOI":"10.1101\/gr.079558.108","volume":"18","author":"JC Marioni","year":"2008","unstructured":"Marioni JC, Mason CE, Mane SM, Stephens M, Gilad Y (2008) RNA-seq: an assessment of technical reproducibility and comparison with gene expression arrays. Genome Res 18:1509\u20131517","journal-title":"Genome Res"},{"key":"2_CR68","doi-asserted-by":"publisher","first-page":"903","DOI":"10.1038\/nbt.2957","volume":"32","author":"S-I Consortium","year":"2014","unstructured":"Consortium S-I et al (2014) A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium. Nat Biotechnol 32:903\u2013914","journal-title":"Nat Biotechnol"},{"key":"2_CR69","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1038\/nmeth.1226","volume":"5","author":"A Mortazavi","year":"2008","unstructured":"Mortazavi A, Williams BA, McCue K, Schaeffer L, Wold B (2008) Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat Methods 5:621\u2013628","journal-title":"Nat Methods"},{"key":"2_CR70","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1016\/j.ajhg.2013.08.008","volume":"93","author":"R Piskol","year":"2013","unstructured":"Piskol R, Ramaswami G, Li JB (2013) Reliable identification of genomic variants from RNA-seq data. Am J Hum Genet 93:641\u2013651","journal-title":"Am J Hum Genet"},{"key":"2_CR71","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1038\/nature12065","volume":"497","author":"M Murtaza","year":"2013","unstructured":"Murtaza M et al (2013) Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA. Nature 497:108\u2013112","journal-title":"Nature"},{"key":"2_CR72","doi-asserted-by":"publisher","first-page":"11815","DOI":"10.1038\/ncomms11815","volume":"7","author":"JJ Chabon","year":"2016","unstructured":"Chabon JJ et al (2016) Circulating tumour DNA profiling reveals heterogeneity of EGFR inhibitor resistance mechanisms in lung cancer patients. Nat Commun 7:11815","journal-title":"Nat Commun"},{"key":"2_CR73","doi-asserted-by":"crossref","first-page":"75742","DOI":"10.18632\/oncotarget.20608","volume":"8","author":"R Wang","year":"2017","unstructured":"Wang R, Li X, Zhang H, Wang K, He J (2017) Cell-free circulating tumor DNA analysis for breast cancer and its clinical utilization as a biomarker. Oncotarget 8:75742\u201375755","journal-title":"Oncotarget"},{"key":"2_CR74","doi-asserted-by":"publisher","first-page":"783","DOI":"10.1016\/j.molonc.2014.12.003","volume":"9","author":"R Lebofsky","year":"2015","unstructured":"Lebofsky R et al (2015) Circulating tumor DNA as a non-invasive substitute to metastasis biopsy for tumor genotyping and personalized medicine in a prospective trial across all tumor types. Mol Oncol 9:783\u2013790","journal-title":"Mol Oncol"},{"key":"2_CR75","doi-asserted-by":"publisher","unstructured":"Shu Y (2017) et al, Circulating tumor DNA mutation profiling by targeted next generation sequencing provides guidance for personalized treatments in multiple cancer types. https:\/\/doi.org\/10.1038\/s41598-017-00520-1","DOI":"10.1038\/s41598-017-00520-1"},{"issue":"16","key":"2_CR76","doi-asserted-by":"publisher","first-page":"1631","DOI":"10.1200\/JCO.2017.76.8671","volume":"36","author":"Jason D. Merker","year":"2018","unstructured":"Merker JD et al (2018) Circulating tumor DNA analysis in patients with cancer: American Society of Clinical Oncology and College of American Pathologists Joint Review. J Clin Oncol JCO2017768671. https:\/\/doi.org\/10.1200\/JCO.2017.76.8671","journal-title":"Journal of Clinical Oncology"},{"key":"2_CR77","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1007\/978-3-642-94744-5_2","volume-title":"Ergebnisse der Inneren Medizin und Kinderheilkunde","author":"F Vogel","year":"1959","unstructured":"Vogel F (1959) Moderne Probleme der Humangenetik. In: Ergebnisse der Inneren Medizin und Kinderheilkunde. Springer, Berlin Heidelberg, pp 52\u2013125. https:\/\/doi.org\/10.1007\/978-3-642-94744-5_2"},{"key":"2_CR78","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1126\/science.286.5439.487","volume":"286","author":"WE Evans","year":"1999","unstructured":"Evans WE, Relling MV (1999) Pharmacogenomics: translating functional genomics into rational therapeutics. Science 286:487\u2013491","journal-title":"Science"},{"key":"2_CR79","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1016\/B978-0-12-801739-5.00011-8","volume-title":"Clinical Applications for Next-Generation Sequencing","author":"Urszula Demkow","year":"2016","unstructured":"Demkow U (2015) Next generation sequencing in pharmacogenomics. in clinical applications for next-generation sequencing. https:\/\/doi.org\/10.1016\/B978-0-12-801739-5.00011-8"},{"key":"2_CR80","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1186\/1479-7364-4-1-59","volume":"4","author":"DR Nelson","year":"2009","unstructured":"Nelson DR (2009) The cytochrome p450 homepage. Hum Genomics 4:59\u201365","journal-title":"Hum Genomics"},{"key":"2_CR81","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1038\/clpt.2011.287","volume":"91","author":"KR Crews","year":"2012","unstructured":"Crews KR et al (2012) Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for codeine therapy in the context of cytochrome P450 2D6 (CYP2D6) genotype. Clin Pharmacol Ther 91:321\u2013326","journal-title":"Clin Pharmacol Ther"},{"key":"2_CR82","doi-asserted-by":"publisher","first-page":"9312","DOI":"10.1200\/JCO.2005.03.3266","volume":"23","author":"MP Goetz","year":"2005","unstructured":"Goetz MP et al (2005) Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes. J Clin Oncol 23:9312\u20139318","journal-title":"J Clin Oncol"},{"key":"2_CR83","doi-asserted-by":"publisher","first-page":"288","DOI":"10.5414\/CPP39288","volume":"39","author":"E Jazwinska-Tarnawska","year":"2001","unstructured":"Jazwinska-Tarnawska E et al (2001) The influence of CYP2D6 polymorphism on the antiarrhythmic efficacy of propafenone in patients with paroxysmal atrial fibrillation during 3 months propafenone prophylactic treatment. Int J Clin Pharmacol Ther 39:288\u2013292","journal-title":"Int J Clin Pharmacol Ther"},{"key":"2_CR84","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1157\/13076423","volume":"58","author":"M Mart\u00ednez-Sell\u00e9s","year":"2005","unstructured":"Mart\u00ednez-Sell\u00e9s M et al (2005) Pharmacogenetic study of the response to flecainide and propafenone in patients with atrial fibrillation. Rev Esp Cardiol 58:745\u2013748","journal-title":"Rev Esp Cardiol"},{"key":"2_CR85","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1016\/j.bbadis.2010.03.013","volume":"1802","author":"ABP Kuilenburg van","year":"2010","unstructured":"van Kuilenburg ABP et al (2010) Dihydropyrimidinase deficiency: phenotype, genotype and structural consequences in 17 patients. Biochim Biophys Acta\u00a0\u2013 Mol Basis Dis 1802:639\u2013648","journal-title":"Biochim Biophys Acta\u00a0\u2013 Mol Basis Dis"},{"key":"2_CR86","doi-asserted-by":"publisher","first-page":"5","DOI":"10.2217\/pgs.15.146","volume":"17","author":"M Re Del","year":"2016","unstructured":"Del Re M et al (2016) Uncommon dihydropyrimidine dehydrogenase mutations and toxicity by fluoropyrimidines: a lethal case with a new variant. Pharmacogenomics 17:5\u20139","journal-title":"Pharmacogenomics"},{"key":"2_CR87","doi-asserted-by":"publisher","first-page":"321","DOI":"10.5858\/arpa.2017-0388-CP","volume":"142","author":"NI Lindeman","year":"2018","unstructured":"Lindeman NI et al (2018) Updated molecular testing guideline for the selection of lung cancer patients for treatment with targeted tyrosine kinase inhibitors guideline from the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology. Arch Pathol Lab Med 142:321\u2013346","journal-title":"Arch Pathol Lab Med"},{"key":"2_CR88","doi-asserted-by":"publisher","first-page":"241","DOI":"10.5858\/arpa.2013-0953-SA","volume":"138","author":"AC Wolff","year":"2014","unstructured":"Wolff AC et al (2014) 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. Arch Pathol Lab Med 138:241\u2013256","journal-title":"Arch Pathol Lab Med"},{"key":"2_CR89","doi-asserted-by":"publisher","first-page":"625","DOI":"10.5858\/arpa.2016-0554-CP","volume":"141","author":"AR Sepulveda","year":"2017","unstructured":"Sepulveda AR et al (2017) Molecular biomarkers for the evaluation of colorectal cancer guideline from the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology. Arch Pathol Lab Med 141:625\u2013657","journal-title":"Arch Pathol Lab Med"},{"key":"2_CR90","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1186\/s13046-017-0591-4","volume":"36","author":"D Su","year":"2017","unstructured":"Su D et al (2017) High performance of targeted next generation sequencing on variance detection in clinical tumor specimens in comparison with current conventional methods. J Exp Clin Cancer Res 36:121","journal-title":"J Exp Clin Cancer Res"},{"key":"2_CR91","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1038\/nbt.2696","volume":"31","author":"GM Frampton","year":"2013","unstructured":"Frampton GM et al (2013) Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat Biotechnol 31:1023\u20131031","journal-title":"Nat Biotechnol"},{"issue":"7","key":"2_CR92","doi-asserted-by":"publisher","first-page":"673","DOI":"10.2217\/pgs-2017-0033","volume":"18","author":"Yao Yang","year":"2017","unstructured":"Yang Y, Botton MR, Scott ER, Scott SA (2017) Sequencing the CYP2D6 gene: from variant allele discovery to clinical pharmacogenetic testing. Pharmacogenomics. https:\/\/doi.org\/10.2217\/pgs-2017-0033","journal-title":"Pharmacogenomics"},{"key":"2_CR93","doi-asserted-by":"publisher","first-page":"1282","DOI":"10.1038\/gim.2016.58","volume":"18","author":"D Mandelker","year":"2016","unstructured":"Mandelker D et al (2016) Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing. Genet Med 18:1282\u20131289","journal-title":"Genet Med"},{"key":"2_CR94","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1016\/j.jmoldx.2017.01.011","volume":"19","author":"LJ Jennings","year":"2017","unstructured":"Jennings LJ et al (2017) Guidelines for validation of next-generation sequencing\u2013based oncology panels. J Mol Diagnostics 19:341\u2013365","journal-title":"J Mol Diagnostics"},{"key":"2_CR95","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.jmoldx.2016.10.002","volume":"19","author":"MM Li","year":"2017","unstructured":"Li MM et al (2017) Standards and guidelines for the interpretation and reporting of sequence variants in cancer. J Mol Diagnostics 19:4\u201323","journal-title":"J Mol Diagnostics"},{"key":"2_CR96","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1038\/nrg.2017.52","volume":"18","author":"K Eilbeck","year":"2017","unstructured":"Eilbeck K, Quinlan A, Yandell M (2017) Settling the score: variant prioritization and Mendelian disease. Nat Rev Genet 18:599\u2013612","journal-title":"Nat Rev Genet"},{"key":"2_CR97","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/S1470-2045(13)70611-9","volume":"15","author":"F Andr\u00e9","year":"2014","unstructured":"Andr\u00e9 F et al (2014) Comparative genomic hybridisation array and DNA sequencing to direct treatment of metastatic breast cancer: a multicentre, prospective trial (SAFIR01\/UNICANCER). Lancet Oncol 15:267\u2013274","journal-title":"Lancet Oncol"},{"key":"2_CR98","doi-asserted-by":"publisher","first-page":"586","DOI":"10.1158\/2159-8290.CD-16-1396","volume":"7","author":"C Massard","year":"2017","unstructured":"Massard C et al (2017) High-throughput genomics and clinical outcome in hard-to-treat advanced cancers: results of the MOSCATO 01 trial. Cancer Discov 7:586\u2013595","journal-title":"Cancer Discov"},{"key":"2_CR99","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1093\/jncimonographs\/lgv012","volume":"2015","author":"A Esposito","year":"2015","unstructured":"Esposito A, Criscitiello C, Curigliano G (2015) Neoadjuvant model for testing emerging targeted therapies in breast cancer. J Natl Cancer Inst\u00a0\u2013 Monogr 2015:51\u201355","journal-title":"J Natl Cancer Inst\u00a0\u2013 Monogr"}],"container-title":["Advances in Experimental Medicine and Biology","Translational Research and Onco-Omics Applications in the Era of Cancer Personal Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-3-030-24100-1_2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,2,2]],"date-time":"2021-02-02T15:10:09Z","timestamp":1612278609000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-3-030-24100-1_2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"ISBN":["9783030240998","9783030241001"],"references-count":99,"URL":"https:\/\/doi.org\/10.1007\/978-3-030-24100-1_2","relation":{},"ISSN":["0065-2598","2214-8019"],"issn-type":[{"value":"0065-2598","type":"print"},{"value":"2214-8019","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019]]},"assertion":[{"value":"12 November 2019","order":1,"name":"first_online","label":"First Online","group":{"name":"ChapterHistory","label":"Chapter History"}}]}}