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Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing  Gemma Armengol, Virinder K. Sarhadi,

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Presentation on theme: "Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing  Gemma Armengol, Virinder K. Sarhadi,"— Presentation transcript:

1 Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing  Gemma Armengol, Virinder K. Sarhadi, Reza Ghanbari, Masoud Doghaei-Moghaddam, Reza Ansari, Masoud Sotoudeh, Pauli Puolakkainen, Arto Kokkola, Reza Malekzadeh, Sakari Knuutila  The Journal of Molecular Diagnostics  Volume 18, Issue 4, Pages (July 2016) DOI: /j.jmoldx Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 Figure 1 KRAS exon 12 mutations observed by both next-generation sequencing (NGS) (A) and Sanger sequencing (B) in stool DNA from cases 9, 44, and 50. NGS-identified mutations (p.G13D in case 9, p.G12A in case 44, and p.G12D in case 50) were validated by PCR and Sanger sequencing. Arrows indicate the mutation position for each case, where two peaks were detected in the sequencing output. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3 Figure 2 KRAS (A and C) and TP53 (B and D) mutations observed by next-generation sequencing (NGS) in a tumorous sample (A and B) and the corresponding stool sample (C and D) from case 44. The two NGS-identified mutations (p.G12A in KRAS and p.G244A in TP53) in stool from case 44 are also detected in the corresponding tumoral tissue from the same patient. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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