Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing Jonathan A.

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Presentation transcript:

Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing Jonathan A. Nowak, Matthew B. Yurgelun, Jacqueline L. Bruce, Vanesa Rojas-Rudilla, Dimity L. Hall, Priyanka Shivdasani, Elizabeth P. Garcia, Agoston T. Agoston, Amitabh Srivastava, Shuji Ogino, Frank C. Kuo, Neal I. Lindeman, Fei Dong The Journal of Molecular Diagnostics Volume 19, Issue 1, Pages 84-91 (January 2017) DOI: 10.1016/j.jmoldx.2016.07.010 Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 Mismatch repair protein deficiency status compared with mutational burden and single–base pair insertion and deletion mutations in mononucleotide repeat (homopolymer) regions detected by next-generation sequencing in the training (A) and validation (B) data sets. MMR-D, mismatch repair protein deficient; MMR-I, mismatch repair protein intact. The Journal of Molecular Diagnostics 2017 19, 84-91DOI: (10.1016/j.jmoldx.2016.07.010) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 2 A and B: POLE c.857C>G (p.Pro286Arg) mutations were identified in two colorectal carcinomas with high mutational burdens but without increased indels in homopolymer regions (arrowheads indicate affected nucleotide). C and D: The two high microsatellite instability carcinomas with the highest mutational burden were wild type for POLE mutations. The Journal of Molecular Diagnostics 2017 19, 84-91DOI: (10.1016/j.jmoldx.2016.07.010) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 3 Mutational signatures of POLE-associated ultramutated colorectal carcinomas (A and B) compared with colorectal carcinomas with high microsatellite instability (C and D). The Journal of Molecular Diagnostics 2017 19, 84-91DOI: (10.1016/j.jmoldx.2016.07.010) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 4 Commonly mutated colorectal cancer genes in mismatch repair protein deficient (MMR-D) and mismatch repair protein intact (MMR-I) carcinomas. MMR-D carcinomas had a higher frequency of BRAF mutations (P = 0.0007) and lower frequency of TP53 mutations (P < 0.0001). The Journal of Molecular Diagnostics 2017 19, 84-91DOI: (10.1016/j.jmoldx.2016.07.010) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions