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

Slides:

Advertisements

Similar presentations

Measurement of Relative Copy Number of CDKN2A/ARF and CDKN2B in Bladder Cancer by Real-Time Quantitative PCR and Multiplex Ligation-Dependent Probe Amplification.

Advertisements

Development of a Novel One-Tube Isothermal Reverse Transcription Thermophilic Helicase-Dependent Amplification Platform for Rapid RNA Detection James Goldmeyer,

Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.

EGFR Mutations in Lung Adenocarcinomas

Detection of Exon 12 Mutations in the JAK2 Gene

Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization,

Rapid Molecular Analysis of the STAT3 Gene in Job Syndrome of Hyper-IgE and Recurrent Infectious Diseases Attila Kumánovics, Carl T. Wittwer, Robert.

A Prospective, Multicenter, Population-Based Study of BRAF Mutational Analysis for Lynch Syndrome Screening Xavier Bessa, Belen Ballesté, Montserrat.

Targeted Next-Generation Sequencing for Hereditary Cancer Syndromes

Laila C. Schenkel, Charles Schwartz, Cindy Skinner, David I

Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing Jean-Marc Rey, Vincent Ducros, Pascal.

Wanlong Ma, Hagop Kantarjian, Xi Zhang, Chen-Hsiung Yeh, Zhong J

Mutation Screening in Juvenile Polyposis Syndrome

Methylation-Specific Multiplex Ligation-Dependent Probe Amplification Enables a Rapid and Reliable Distinction between Male FMR1 Premutation and Full-Mutation.

Comparison of Allelic Discrimination by dHPLC, HRM, and TaqMan in the Detection of BRAF Mutation V600E Pablo Carbonell, María C. Turpin, Daniel Torres-Moreno,

Multiplex Ligation-Dependent Probe Amplification

A Member of a Gene Family on Xp22

Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar

A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2 Jianli Li, Hongzheng Dai, Yanming Feng, Jia Tang, Stella Chen,

Long-Range (17.7 kb) Allele-Specific Polymerase Chain Reaction Method for Direct Haplotyping of R117H and IVS-8 Mutations of the Cystic Fibrosis Transmembrane.

Influence of the Duplication of CFTR Exon 9 and Its Flanking Sequences on Diagnosis of Cystic Fibrosis Mutations Ayman El-Seedy, Tony Dudognon, Frédéric.

Application of Self-Quenched JH Consensus Primers for Real-Time Quantitative PCR of IGH Gene to Minimal Residual Disease Evaluation in Multiple Myeloma

High Resolution Melting Analysis for JAK2 Exon 14 and Exon 12 Mutations Inmaculada Rapado, Silvia Grande, Enriqueta Albizua, Rosa Ayala, José-Angel Hernández,

Detecting 22q11.2 Deletions by Use of Multiplex Ligation-Dependent Probe Amplification on DNA from Neonatal Dried Blood Spot Samples Karina M. Sørensen,

Assessment of EGFR Mutation Status in Lung Adenocarcinoma by Immunohistochemistry Using Antibodies Specific to the Two Major Forms of Mutant EGFR Marie.

Detection of an Apparent Homozygous 3120G>A Cystic Fibrosis Mutation on a Routine Carrier Screen Denise LaMarche Heaney, Patrick Flume, Lauren Hamilton,

William L. Gerald, M.D., Ph.D, 1954–2008

A Larger Spectrum of Intragenic Short Tandem Repeats Improves Linkage Analysis and Localization of Intragenic Recombination Detection in the Dystrophin.

Keeping Up With the Next Generation

SeqSharp The Journal of Molecular Diagnostics

Pathogenicity Evaluation of BRCA1 and BRCA2 Unclassified Variants Identified in Portuguese Breast/Ovarian Cancer Families Catarina Santos, Ana Peixoto,

Detection of Exon 12 Mutations in the JAK2 Gene

Catherine E. Keegan, Anthony A. Killeen

Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population Isabel Fernandez-Carvajal, Paulina Walichiewicz,

Heterogeneous Staining for Mismatch Repair Proteins during Population-Based Prescreening for Hereditary Nonpolyposis Colorectal Cancer Natasha Watson,

Association of Hereditary Nonpolyposis Colorectal Cancer–Related Tumors Displaying Low Microsatellite Instability with MSH6 Germline Mutations Ying Wu,

Harry R. Hill, Nancy H. Augustine, Robert J. Pryor, Gudrun H

Analysis of Rare APC Variants at the mRNA Level

The c.1364C>A (p.A455E) Mutation in the CFTR Pseudogene Results in an Incorrectly Assigned Carrier Status by a Commonly Used Screening Platform Kristin.

Benjamin P. Song, Surbhi Jain, Selena Y. Lin, Quan Chen, Timothy M

Target-Enriched Next-Generation Sequencing Reveals Differences between Primary and Secondary Ovarian Tumors in Formalin-Fixed, Paraffin-Embedded Tissue

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

Skin Biopsy Is a Practical Approach for the Clinical Diagnosis and Molecular Genetic Analysis of X-Linked Alport's Syndrome Fang Wang, Dan Zhao, Jie.

A Synonymous Mutation in the CFTR Gene Causes Aberrant Splicing in an Italian Patient Affected by a Mild Form of Cystic Fibrosis Valeria Faa′, Alessandra.

The Molecular Pathology of Primary Immunodeficiencies

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

Serum DNA Motifs Predict Disease and Clinical Status in Multiple Sclerosis Julia Beck, Howard B. Urnovitz, Marina Saresella, Domenico Caputo, Mario Clerici,

A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

EGFR Mutations in Lung Adenocarcinomas

Jennifer A. Hempelmann, Sheena M. Scroggins, Colin C

A Multi-Exonic BRCA1 Deletion Identified in Multiple Families through Single Nucleotide Polymorphism Haplotype Pair Analysis and Gene Amplification with.

Detection of BRAF V600E Mutation in Colorectal Cancer

Per M. Knappskog, Jacek Majewski, Avi Livneh, Per Torgeir E

Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays Lucia Pérez-Cabornero,

Genomic Technologies and the New Era of Genomic Medicine

Rebecca L. Margraf, Rong Mao, Carl T. Wittwer

Multiple Sequence Variants in Hereditary Hemorrhagic Telangiectasia Cases Jamie McDonald, Friederike Gedge, Allene Burdette, James Carlisle, Changkuoth.

Feras M. Hantash, Arlene Rebuyon, Mei Peng, Joy B

Cecily P. Vaughn, Elaine Lyon, Wade S. Samowitz

A New Insertion/Deletion of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Accounts for 3.4% of Cystic Fibrosis Mutations in Sardinia: Implications.

Meiotic Microdeletion Breakpoints in the BRCA1 Gene Are Significantly Associated with Symmetric DNA-Sequence Elements Beatrice Schmucker, Michael Krawczak

Relationship between CFTR and CTRC Variants and the Clinical Phenotype in Late- Onset Cystic Fibrosis Disease with Chronic Pancreatitis Anna C. Tomaiuolo,

Karen Snow-Bailey, Ph.D., 1961–2006

Analysis of Molecular Alterations in Left- and Right-Sided Colorectal Carcinomas Reveals Distinct Pathways of Carcinogenesis Tamotsu Sugai, Wataru Habano,

Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene Feras M. Hantash, Joy B. Redman,

Multiplex Ligation-Dependent Probe Amplification Identification of Whole Exon and Single Nucleotide Deletions in the CFTR Gene of Hispanic Individuals.

Immunohistochemistry versus Microsatellite Instability Testing for Screening Colorectal Cancer Patients at Risk for Hereditary Nonpolyposis Colorectal.

A Complex Rearrangement in the APC Gene Uncovered by Multiplex Ligation- Dependent Probe Amplification Constanze Pagenstecher, Dorothea Gadzicki, Dietlinde.

Monique A. Johnson, Marvin J. Yoshitomi, C. Sue Richards

Measurement of Relative Copy Number of CDKN2A/ARF and CDKN2B in Bladder Cancer by Real-Time Quantitative PCR and Multiplex Ligation-Dependent Probe Amplification

Presentation transcript:

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 765-770 (November 2010) DOI: 10.2353/jmoldx.2010.100039 Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Schematic overview of the MMR and EPCAM genetic analysis. IHC, immunohistochemical; MSI, microsatellite instability. The Journal of Molecular Diagnostics 2010 12, 765-770DOI: (10.2353/jmoldx.2010.100039) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

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 2010 12, 765-770DOI: (10.2353/jmoldx.2010.100039) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

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 2010 12, 765-770DOI: (10.2353/jmoldx.2010.100039) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 4 Proposed decision-support flow diagram for incorporating EPCAM deletion testing into the LS genetic diagnosis strategy. The Journal of Molecular Diagnostics 2010 12, 765-770DOI: (10.2353/jmoldx.2010.100039) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions