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EPCAM Germ Line Deletions as Causes of Lynch Syndrome in Spanish Patients  Carla Guarinos, Adela Castillejo, Víctor-Manuel Barberá, Lucía Pérez-Carbonell,

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Presentation on theme: "EPCAM Germ Line Deletions as Causes of Lynch Syndrome in Spanish Patients  Carla Guarinos, Adela Castillejo, Víctor-Manuel Barberá, Lucía Pérez-Carbonell,"— Presentation transcript:

1 EPCAM Germ Line Deletions as Causes of Lynch Syndrome in Spanish Patients 
Carla Guarinos, Adela Castillejo, Víctor-Manuel Barberá, Lucía Pérez-Carbonell, Ana-Beatriz Sánchez-Heras, Ángel Segura, Carmen Guillén-Ponce, Ana Martínez-Cantó, María-Isabel Castillejo, Cecilia-Magdalena Egoavil, Rodrigo Jover, Artemio Payá, Cristina Alenda, José-Luís Soto  The Journal of Molecular Diagnostics  Volume 12, Issue 6, Pages (November 2010) DOI: /jmoldx Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

2 Figure 1 Schematic overview of the MMR and EPCAM genetic analysis. IHC, immunohistochemical; MSI, microsatellite instability. 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 Structural organization of the EPCAM-MSH2 locus. The EPCAM and MSH2 genes are indicated in green, with an expanded region showing positions of relevant exons. Positions of the MLPA probes are indicated by black and red vertical arrows. Arrows with asterisks indicate probes that revealed the EPCAM deletion discovered in this study. The minimal deleted region (5 kb) is depicted as a gray rectangle. The red double arrowhead illustrates the length of the deletion, and a sequencing trace that includes the deletion breakpoint of the 8673-bp deletion is shown. 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 Pedigree of a family with an EPCAM mutation. Family members indicated by solid symbols were diagnosed with CRC at the ages indicated. Index subject IV-1 is indicated by a gray rectangle and an arrow. HNC, Head and neck cancer; BC, Breast cancer; CRC, Colorectal cancer; and P, polyps. The Journal of Molecular Diagnostics  , DOI: ( /jmoldx ) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

5 Figure 4 Proposed decision-support flow diagram for incorporating EPCAM deletion testing into the LS genetic diagnosis strategy. 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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