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PIK3CA Hotspot Mutation Scanning by a Novel and Highly Sensitive High-Resolution Small Amplicon Melting Analysis Method  Panagiotis A. Vorkas, Nikoleta.

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Presentation on theme: "PIK3CA Hotspot Mutation Scanning by a Novel and Highly Sensitive High-Resolution Small Amplicon Melting Analysis Method  Panagiotis A. Vorkas, Nikoleta."— Presentation transcript:

1 PIK3CA Hotspot Mutation Scanning by a Novel and Highly Sensitive High-Resolution Small Amplicon Melting Analysis Method  Panagiotis A. Vorkas, Nikoleta Poumpouridou, Sophia Agelaki, Christos Kroupis, Vassilis Georgoulias, Evi S. Lianidou  The Journal of Molecular Diagnostics  Volume 12, Issue 5, Pages (September 2010) DOI: /jmoldx Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

2 Figure 1 Diagrams of mutation frequencies of hotspot regions of exon 9 (A) and exon 20 (B) of the PIK3CA gene. Frequencies are reported for breast cancer (red color) and for all cancer (blue color) types. Arrows indicate primer sites of small amplicons (Sets S9 and S20). Mutation frequency data are according to COSMIC database v41 release. The Journal of Molecular Diagnostics  , DOI: ( /jmoldx ) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

3 Figure 2 Fluorescence difference plots of sensitivity studies. The 92-bp amplicon (A) and 261-bp amplicon (B) of exon 9, and 70-bp amplicon (C) and 352-bp amplicon (D) of exon 20 of the PIK3CA gene. Figure windows present sequencing results of indicated ratios of the cell lines in the reverse direction. The Journal of Molecular Diagnostics  , DOI: ( /jmoldx ) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

4 Figure 3 Fluorescence difference plots of HRMA, and sequencing results of the 129 formalin-fixed paraffin-embedded tissues, 92-bp amplicon for exon 9 (A) and 70-bp amplicon for exon 20 (B). Sequencing results of samples indicated by arrows can be found in the lower section of each of the figures or Supplemental Figure S3 at The sample indicated with an asterisk, in HRMA and sequencing, is the sample found to bear a high proportion for the c.3140A>G mutation, not compatible with an heterozygote. The Journal of Molecular Diagnostics  , DOI: ( /jmoldx ) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

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