1. Targeted Next-Generation Sequencing for Hereditary Cancer Syndromes
Laura J. Tafe 
The Journal of Molecular Diagnostics 
Volume 17, Issue 5, Pages (September 2015)
DOI: /j.jmoldx
Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2. Figure 1
A: LS screening algorithm based on IHC of MMR proteins to help determine the need for germline testing. B: In some instances, the testing process can bypass the algorithm and proceed directly to NGS. ACMG, American College of Medical Genetics and Genomics; IHC, immunohistochemistry; LS, Lynch syndrome; MMR, mismatch repair system; MSI, microsatellite instability; NCCN, National Comprehensive Cancer Network; NGS, next-generation sequencing.
The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx )
Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3. Figure 2
Components of test development, validation, reporting, and ongoing quality assurance measures that should be taken into account when instituting a clinical next-generation sequencing assay. CNV, copy number variants; Indel, insertion/deletion; SNV, single nucleotide variant.
The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx )
Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions