Next generation sequencing‐based gene panel tests for the management of solid tumors

Next generation sequencing (NGS) has been an invaluable tool to put genomic sequencing into clinical practice. The incorporation of clinically relevant target sequences into NGS‐based gene panel tests has generated practical diagnostic tools that enable individualized cancer‐patient care. The clinical utility of gene panel testing includes investigation of the genetic basis for an individual's response to therapy, such as signaling pathways associated with a response to specific therapies, microsatellite instability and a hypermutated phenotype, and deficiency in the DNA double‐strand break repair pathway. In this review, we describe the concept of precision cancer medicine using target sequences in gene panel tests as well as the importance of the control of sample quality in routine NGS‐based genomic testing. We describe geographic and ethnic differences in cancer genomes, and discuss issues that need to be addressed in the future based on our experiences in Japan.

[1]  Shujiro Okuda,et al.  Common driver mutations and smoking history affect tumor mutation burden in lung adenocarcinoma. , 2018, The Journal of surgical research.

[2]  Shujiro Okuda,et al.  Actionable gene alterations in an Asian population with triple-negative breast cancer. , 2018, JCO precision oncology.

[3]  Shujiro Okuda,et al.  Pathogenic Germline BRCA1/2 Mutations and Familial Predisposition to Gastric Cancer , 2018, JCO precision oncology.

[4]  Shujiro Okuda,et al.  Clinical and Genetic Implications of Mutation Burden in Squamous Cell Carcinoma of the Lung , 2018, Annals of Surgical Oncology.

[5]  T. Kohno Implementation of “clinical sequencing” in cancer genome medicine in Japan , 2018, Cancer science.

[6]  B. Taylor,et al.  HER kinase inhibition in patients with HER2- and HER3-mutant cancers , 2018, Nature.

[7]  Mark Gardner,et al.  Analytical Validation of a Next-Generation Sequencing Assay to Monitor Immune Responses in Solid Tumors. , 2018, The Journal of molecular diagnostics : JMD.

[8]  Shujiro Okuda,et al.  Impact of Concurrent Genomic Alterations Detected by Comprehensive Genomic Sequencing on Clinical Outcomes in East-Asian Patients with EGFR-Mutated Lung Adenocarcinoma , 2018, Scientific Reports.

[9]  Nobuaki Sato,et al.  Formalin-fixed paraffin-embedded sample conditions for deep next generation sequencing. , 2017, The Journal of surgical research.

[10]  T. Wakai,et al.  Hypermutation and microsatellite instability in gastrointestinal cancers , 2017, Oncotarget.

[11]  Shujiro Okuda,et al.  Actionable gene-based classification toward precision medicine in gastric cancer , 2017, Genome Medicine.

[12]  Shujiro Okuda,et al.  Comprehensive genomic sequencing detects important genetic differences between right-sided and left-sided colorectal cancer , 2017, Oncotarget.

[13]  Shujiro Okuda,et al.  Utility of comprehensive genomic sequencing for detecting HER2-positive colorectal cancer. , 2017, Human pathology.

[14]  A. Tinker,et al.  Homologous Recombination Deficiency in Breast Cancer: A Clinical Review. , 2017, JCO precision oncology.

[15]  Pablo Cingolani,et al.  Clinical application of a cancer genomic profiling assay to guide precision medicine decisions , 2017, Personalized medicine.

[16]  Y. Okuno,et al.  Clinical sequencing using a next‐generation sequencing‐based multiplex gene assay in patients with advanced solid tumors , 2017, Cancer science.

[17]  Donavan T. Cheng,et al.  Mutational Landscape of Metastatic Cancer Revealed from Prospective Clinical Sequencing of 10,000 Patients , 2017, Nature Medicine.

[18]  Russell Bonneville,et al.  Performance evaluation for rapid detection of pan-cancer microsatellite instability with MANTIS , 2016, Oncotarget.

[19]  T. Kohno,et al.  Vandetanib in patients with previously treated RET-rearranged advanced non-small-cell lung cancer (LURET): an open-label, multicentre phase 2 trial. , 2017, The Lancet. Respiratory medicine.

[20]  Shujiro Okuda,et al.  Genomic landscape of colorectal cancer in Japan: clinical implications of comprehensive genomic sequencing for precision medicine , 2016, Genome Medicine.

[21]  I. Salmon,et al.  Clinical Application of Targeted Next Generation Sequencing for Colorectal Cancers , 2016, International journal of molecular sciences.

[22]  Jay Shendure,et al.  Classification and characterization of microsatellite instability across 18 cancer types , 2016, Nature Medicine.

[23]  T. Rebbeck,et al.  Cancer Genomics: Diversity and Disparity Across Ethnicity and Geography. , 2016, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[24]  M. Marton,et al.  Pre-Analytical Considerations for Successful Next-Generation Sequencing (NGS): Challenges and Opportunities for Formalin-Fixed and Paraffin-Embedded Tumor Tissue (FFPE) Samples , 2016, International journal of molecular sciences.

[25]  Ryan D. Morin,et al.  Circulating Tumor Cells (CTC) and Cell-Free DNA (cfDNA) Workshop 2016: Scientific Opportunities and Logistics for Cancer Clinical Trial Incorporation , 2016, International journal of molecular sciences.

[26]  C. Kelly,et al.  The genomics and therapeutics of HER2-positive gastric cancer-from trastuzumab and beyond. , 2016, Journal of gastrointestinal oncology.

[27]  Christoph Endrullat,et al.  Standardization and quality management in next-generation sequencing , 2016, Applied & translational genomics.

[28]  T. Miller,et al.  Clinical Implementation of Novel Targeted Therapeutics in Advanced Breast Cancer , 2016, Journal of cellular biochemistry.

[29]  F. Collins,et al.  Aiming High--Changing the Trajectory for Cancer. , 2016, The New England journal of medicine.

[30]  T. Ochiya,et al.  Novel combination of serum microRNA for detecting breast cancer in the early stage , 2016, Cancer science.

[31]  N. Takebe,et al.  Perspectives on research activity in the USA on Cancer Precision Medicine. , 2015, Japanese journal of clinical oncology.

[32]  S. Narod,et al.  Genetic risk assessment and prevention: the role of genetic testing panels in breast cancer , 2015, Expert review of anticancer therapy.

[33]  C. Horak,et al.  Association of PIK3CA mutation with response (ExRx) to cetuximab (C) in metastatic (met) triple-negative breast cancer (TNBC). , 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[34]  A. Buzaid,et al.  Next-generation sequencing (NGS) in metastatic breast cancer (mBC) patients: Translation from sequence data into clinical practice. , 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[35]  R. Scharpf,et al.  The Genomic Landscape of Response to EGFR Blockade in Colorectal Cancer , 2015, Nature.

[36]  Brenda Y. Hernandez,et al.  Robustness of Next Generation Sequencing on Older Formalin-Fixed Paraffin-Embedded Tissue , 2015, PloS one.

[37]  L. Crinò,et al.  Nivolumab versus Docetaxel in Advanced Squamous-Cell Non-Small-Cell Lung Cancer. , 2015, The New England journal of medicine.

[38]  Jingwen Zhang,et al.  Development of trastuzumab-resistant human gastric carcinoma cell lines and mechanisms of drug resistance , 2015, Scientific Reports.

[39]  Bert Vogelstein,et al.  PD-1 Blockade in Tumors with Mismatch-Repair Deficiency. , 2015, The New England journal of medicine.

[40]  J. Lunceford,et al.  Pembrolizumab for the treatment of non-small-cell lung cancer. , 2015, The New England journal of medicine.

[41]  Martin L. Miller,et al.  Mutational landscape determines sensitivity to PD-1 blockade in non–small cell lung cancer , 2015, Science.

[42]  V. Seewaldt,et al.  Triple-negative breast cancer in African-American women: disparities versus biology , 2015, Nature Reviews Cancer.

[43]  A. Fujimoto,et al.  Cancer whole-genome sequencing: present and future , 2015, Oncogene.

[44]  R. Eils,et al.  Hypermutation takes the driver’s seat , 2015, Genome Medicine.

[45]  Kyoung-Mee Kim,et al.  The Impact of Concomitant Genomic Alterations on Treatment Outcome for Trastuzumab Therapy in HER2-Positive Gastric Cancer , 2015, Scientific Reports.

[46]  F. Collins,et al.  A new initiative on precision medicine. , 2015, The New England journal of medicine.

[47]  Rakesh Nagarajan,et al.  Clinical next‐generation sequencing in patients with non–small cell lung cancer , 2015, Cancer.

[48]  K. Muro,et al.  Clinical Validation of a Multiplex Kit for RAS Mutations in Colorectal Cancer: Results of the RASKET (RAS KEy Testing) Prospective, Multicenter Study , 2015, EBioMedicine.

[49]  Alan Ashworth,et al.  Synthetic lethality and cancer therapy: lessons learned from the development of PARP inhibitors. , 2015, Annual review of medicine.

[50]  Alexander Dobrovic,et al.  Sequence artifacts in DNA from formalin-fixed tissues: causes and strategies for minimization. , 2015, Clinical chemistry.

[51]  U. McDermott,et al.  Reading between the lines; understanding drug response in the post genomic era , 2014, Molecular oncology.

[52]  Steven J. M. Jones,et al.  Comprehensive molecular characterization of gastric adenocarcinoma , 2014, Nature.

[53]  I. Nagtegaal,et al.  Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors. , 2014, Gastroenterology.

[54]  Peter J. Park,et al.  The Landscape of Microsatellite Instability in Colorectal and Endometrial Cancer Genomes , 2013, Cell.

[55]  G. Nuovo,et al.  The Effect of Aging of Formalin-fixed Paraffin-embedded Tissues on the In Situ Hybridization and Immunohistochemistry Signals in Cervical Lesions , 2013, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

[56]  Steven A. Roberts,et al.  An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers , 2013, Nature Genetics.

[57]  David T. W. Jones,et al.  Signatures of mutational processes in human cancer , 2013, Nature.

[58]  Linghua Wang,et al.  From human genome to cancer genome: The first decade , 2013, Genome research.

[59]  Steven A. Roberts,et al.  Mutational heterogeneity in cancer and the search for new cancer genes , 2014 .

[60]  Jeffrey J Meyer,et al.  Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature 2012. (5) , 2013 .

[61]  E. Lander,et al.  Lessons from the Cancer Genome , 2013, Cell.

[62]  Li Ding,et al.  Activating HER2 mutations in HER2 gene amplification negative breast cancer. , 2013, Cancer discovery.

[63]  Steven J. M. Jones,et al.  Comprehensive molecular portraits of human breast tumours , 2013 .

[64]  B. Hennessy,et al.  Overcoming resistance and restoring sensitivity to HER2-targeted therapies in breast cancer. , 2012 .

[65]  Steven J. M. Jones,et al.  Comprehensive genomic characterization of squamous cell lung cancers , 2012, Nature.

[66]  B. Hennessy,et al.  Overcoming resistance and restoring sensitivity to HER2-targeted therapies in breast cancer , 2012, Annals of oncology : official journal of the European Society for Medical Oncology.

[67]  Steven J. M. Jones,et al.  Comprehensive molecular characterization of human colon and rectal cancer , 2012, Nature.

[68]  Steven J. M. Jones,et al.  Comprehensive molecular portraits of human breast tumors , 2012, Nature.

[69]  H. Mano ALKoma: a cancer subtype with a shared target. , 2012, Cancer discovery.

[70]  Benjamin J. Raphael,et al.  Integrated Genomic Analyses of Ovarian Carcinoma , 2011, Nature.

[71]  Yoon-Koo Kang,et al.  Trastuzumab in combination with chemotherapy versus chemotherapy alone for treatment of HER2-positive advanced gastric or gastro-oesophageal junction cancer (ToGA): a phase 3, open-label, randomised controlled trial , 2010, The Lancet.

[72]  D. Schadendorf,et al.  Improved survival with ipilimumab in patients with metastatic melanoma. , 2010, The New England journal of medicine.

[73]  Joshua M. Korn,et al.  Comprehensive genomic characterization defines human glioblastoma genes and core pathways , 2008, Nature.

[74]  G. Mills,et al.  A functional genetic approach identifies the PI3K pathway as a major determinant of trastuzumab resistance in breast cancer. , 2007, Cancer cell.

[75]  H. Varmus,et al.  Support for the Human Cancer Genome Project , 2005, Science.

[76]  Andrew Fraser Worms in L.A. , 2003, Nature Genetics.

[77]  H. Varmus Genomic empowerment: the importance of public databases , 2002, Nature Genetics.

[78]  Annabel M. Patterson Reading Between the Lines , 1992 .

[79]  G. Nuovo,et al.  Comparison of formalin, buffered formalin, and Bouin's fixation on the detection of human papillomavirus deoxyribonucleic acid from genital lesions. , 1988, Laboratory investigation; a journal of technical methods and pathology.