sequencing of three technologies: targeted exon cancer genes linked to sequencing using Pacific Biosciences drug response: results PacBio RS, multiplex somatic mutation from a clinical trial. Int J genotyping using Sequenom MassARRAY Cancer and Sanger sequencing. Nineteen actionable mutations were identified in 16 (32%) patients. Across technologies, results were in agreement in 100% of biopsy specimens and 95% of archival specimens. The study demonstrated that the use of next generation sequencing for real-time genomic profiling in advanced cancer patients is feasible. 4. Clinical Harris G, O'Toole S, Review of the role of Massive Parallel Aug 2016 practice George P, et al: Massive Sequencing (MPS, also referred to as review Parallel Sequencing of Next Generation Sequencing NGS). to Solid Tumours - identify mutations/ variants and tissue Challenges and RNA expression profiles for diagnosis, Opportunities for prognostication and targeted therapy Pathologists. stratification. Histopathology, online Aug 2016 ahead of publication, doi: 10.1111/his.13067. 5. Study of Jeck, W.R., et al., Targeted Study of genomic analysis using NGS of 2014 diagnostic next generation 248 genes, including all those of known accuracy sequencing identifies clinical significance in melanoma. clinically actionable Mutations in melanoma cell lines mutations in patients with correlated with their sensitivity to melanoma. Pigment Cell & corresponding small molecule inhibitors. Melanoma Research, Actionable mutations were found in 89% 2014; 27(4):653-663. of the tumor tissues analysed, 56% of which would not be identified by standard-of-care approaches. The study demonstrated the role of targeted sequencing for clinical use in melanoma.
sequencing of cancer genes linked to drug response: results from a clinical trial. Int J Cancer three technologies: targeted exon sequencing using Pacific Biosciences PacBio RS, multiplex somatic mutation genotyping using Sequenom MassARRAY and Sanger sequencing. Nineteen actionable mutations were identified in 16 (32%) patients. Across technologies, results were in agreement in 100% of biopsy specimens and 95% of archival specimens. The study demonstrated that the use of next generation sequencing for real-time genomic profiling in advanced cancer patients is feasible. 4. Clinical practice review Harris G, O'Toole S, George P, et al: Massive Parallel Sequencing of Solid Tumours - Challenges and Opportunities for Pathologists. Histopathology, online Aug 2016 ahead of publication, doi: 10.1111/his.13067. Review of the role of Massive Parallel Sequencing (MPS, also referred to as Next Generation Sequencing NGS). to identify mutations/ variants and tissue RNA expression profiles for diagnosis, prognostication and targeted therapy stratification. Aug 2016 5. Study of diagnostic accuracy Jeck, W.R., et al., Targeted next generation sequencing identifies clinically actionable mutations in patients with melanoma. Pigment Cell & Melanoma Research, 2014; 27(4):653-663. Study of genomic analysis using NGS of 248 genes, including all those of known clinical significance in melanoma. Mutations in melanoma cell lines correlated with their sensitivity to corresponding small molecule inhibitors. Actionable mutations were found in 89% of the tumor tissues analysed, 56% of which would not be identified by standard-of-care approaches. The study demonstrated the role of targeted sequencing for clinical use in melanoma. 2014