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Frequency of Deletions of EPCAM (TACSTD1) in MSH2-Associated Lynch Syndrome Cases  Kandelaria Rumilla, Karen V. Schowalter, Noralane M. Lindor, Brittany.

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Presentation on theme: "Frequency of Deletions of EPCAM (TACSTD1) in MSH2-Associated Lynch Syndrome Cases  Kandelaria Rumilla, Karen V. Schowalter, Noralane M. Lindor, Brittany."— Presentation transcript:

1 Frequency of Deletions of EPCAM (TACSTD1) in MSH2-Associated Lynch Syndrome Cases 
Kandelaria Rumilla, Karen V. Schowalter, Noralane M. Lindor, Brittany C. Thomas, Kara A. Mensink, Steven Gallinger, Spring Holter, Polly A. Newcomb, John D. Potter, Mark A. Jenkins, John L. Hopper, Tiffany I. Long, Daniel J. Weisenberger, Robert W. Haile, Graham Casey, Peter W. Laird, Loic Le Marchand, Stephen N. Thibodeau  The Journal of Molecular Diagnostics  Volume 13, Issue 1, Pages (January 2011) DOI: /j.jmoldx Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 Figure 1 Analysis of EPCAM/TACSTD1 for large deletions and duplications by MLPA, two normal copies of each probe (green squares) and control probes (blue squares) are represented by a peak ratio of one. Loss of one allele at the probe site results in a decrease in the peak ratio to 0.5 and is represented by a red square. A: Shows a normal result, with all EPCAM/TACSTD1 probes showing normal dosage. B: Shows a deletion that includes exons 8 and 9 of EPCAM/TACSTD1 and two probes located downstream of the gene including a probe 3 kb away. C: Shows a deletion that includes exons 8 and 9 only. The Journal of Molecular Diagnostics  , 93-99DOI: ( /j.jmoldx ) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3 Figure 2 Results of MSH2 hypermethylation test by methylation-specific PCR and fragment length analysis. A: Shows the results of the ABI-based fragment analysis for methylation-specific primers in region 1 of the MSH2 promoter. MSH2 hypermethylation can be seen in tumor and normal tissue in a case with a EPCAM/TACSTD1 deletion. In contrast, the negative control case (loss of MLH1 expression) does not show MSH2 methylation. B: Shows similar data for region 3 of the MSH2 promoter. The Journal of Molecular Diagnostics  , 93-99DOI: ( /j.jmoldx ) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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