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

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Presentation on theme: "Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing  Jonathan A."— Presentation transcript:

1 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 (January 2017) DOI: /j.jmoldx Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 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  , 84-91DOI: ( /j.jmoldx ) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3 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  , 84-91DOI: ( /j.jmoldx ) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

4 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  , 84-91DOI: ( /j.jmoldx ) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

5 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  , 84-91DOI: ( /j.jmoldx ) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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