A Multicenter Blinded Study to Evaluate KRAS Mutation Testing Methodologies in the Clinical Setting Vicki Whitehall, Kayla Tran, Aarti Umapathy, Fabienne.

Slides:

Advertisements

Similar presentations

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

Advertisements

EGFR Mutations in Lung Adenocarcinomas

The Use of COLD-PCR and High-Resolution Melting Analysis Improves the Limit of Detection of KRAS and BRAF Mutations in Colorectal Cancer Irene Mancini,

Sensitive Detection of KRAS Mutations in Archived Formalin-Fixed Paraffin-Embedded Tissue Using Mutant-Enriched PCR and Reverse-Hybridization Christoph.

Detection of Low-Level KRAS Mutations Using PNA-Mediated Asymmetric PCR Clamping and Melting Curve Analysis with Unlabeled Probes Ji Eun Oh, Hee Sun.

Natalia Kholod, Jacques Boniver, Philippe Delvenne

Kirby Siemering, Shehnaaz S. M. Manji, Wendy M

Multiplex Preamplification of Serum DNA to Facilitate Reliable Detection of Extremely Rare Cancer Mutations in Circulating DNA by Digital PCR Jennifer.

A Multiplex SNaPshot Assay as a Rapid Method for Detecting KRAS and BRAF Mutations in Advanced Colorectal Cancers Sandrine Magnin, Erika Viel, Alice.

Immunoguided Laser Assisted Microdissection Techniques for DNA Methylation Analysis of Archival Tissue Specimens Franziska C. Eberle, Jeffrey C. Hanson,

Philippe Szankasi, Mohamed Jama, David W. Bahler

Ultrasensitive Detection of KRAS2 Mutations in Bile and Serum from Patients with Biliary Tract Carcinoma Using LigAmp Technology Chanjuan Shi, Arjun.

A High-Resolution Melting Protocol for Rapid and Accurate Differential Diagnosis of Thyroid Nodules Irene Mancini, Pamela Pinzani, Cinzia Pupilli, Luisa.

Comparison of High-Resolution Melting Analysis, TaqMan Allelic Discrimination Assay, and Sanger Sequencing for Clopidogrel Efficacy Genotyping in Routine.

Jeung-Yeal Ahn, Katie Seo, Olga Weinberg, Scott D. Boyd, Daniel A

Ken B. Waites, Li Xiao, Vanya Paralanov, Rose M. Viscardi, John I

Molly Yancovitz, Joanne Yoon, Maryann Mikhail, Weiming Gai, Richard L

Sensitive Detection of KRAS Mutations in Archived Formalin-Fixed Paraffin-Embedded Tissue Using Mutant-Enriched PCR and Reverse-Hybridization Christoph.

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

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,

Shaoyu Zhou, Keyaunoosh Kassauei, David J. Cutler, Giulia C

Manuel Salto-Tellez, Suresh G

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

Improved Real-Time Multiplex Polymerase Chain Reaction Detection of Methylenetetrahydrofolate Reductase (MTHFR) 677C>T and 1298A>C Polymorphisms Using.

Dynamics of the Emergence of a Human Cytomegalovirus UL97 Mutant Strain Conferring Ganciclovir Resistance in a Pediatric Stem-Cell Transplant Recipient

Hillary S. Sloane, James P. Landers, Kimberly A. Kelly

Evaluation of BRAF Mutation Testing Methodologies in Formalin-Fixed, Paraffin- Embedded Cutaneous Melanomas Johanne Lade-Keller, Kirsten M. Rømer, Per.

Genotyping of Frequent BRCA1/2 SNPs with Unlabeled Probes

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

Application of a BRAF Pyrosequencing Assay for Mutation Detection and Copy Number Analysis in Malignant Melanoma Cynthia Spittle, M. Renee Ward, Katherine.

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

KRAS Mutation The Journal of Molecular Diagnostics

Comparison of KRAS Mutation Analysis and FISH for Detecting Pancreatobiliary Tract Cancer in Cytology Specimens Collected During Endoscopic Retrograde.

BRAF Mutation Testing in Solid Tumors

Cecily P. Vaughn, Kojo S.J. Elenitoba-Johnson

Development of a Quantitative Real-Time Polymerase Chain Reaction Assay for the Detection of the JAK2 V617F Mutation Elizabeth C. Wolstencroft, Katy.

The Molecular Pathology of Primary Immunodeficiencies

Iris Schrijver, Tiffanee J. Lenzi, Carol D. Jones, Marla J

Ultrasensitive Detection of KRAS2 Mutations in Bile and Serum from Patients with Biliary Tract Carcinoma Using LigAmp Technology Chanjuan Shi, Arjun.

Ashleigh C. McEvoy, Benjamin A. Wood, Nima M. Ardakani, Michelle R

Detection and Discrimination between Deletional and Non-Deletional Prader-Willi and Angelman Syndromes by Methylation-Specific PCR and Quantitative Melting.

EGFR Mutations in Lung Adenocarcinomas

A Commercial Real-Time PCR Kit Provides Greater Sensitivity than Direct Sequencing to Detect KRAS Mutations Bárbara Angulo, Elena García-García, Rebeca.

A Simple Method to Confirm and Size Deletion, Duplication, and Insertion Mutations Detected by Sequence Analysis Lawrence N. Hjelm, Ephrem L.H. Chin,

Microfluidic Deletion/Insertion Analysis for Rapid Screening of KIT and PDGFRA Mutations in CD117-Positive Gastrointestinal Stromal Tumors Alberto Zamò,

Design and Evaluation of a Real-Time PCR Assay for Quantification of JAK2 V617F and Wild-Type JAK2 Transcript Levels in the Clinical Laboratory Jason.

Detection of the JAK2 V617F Mutation by LightCycler PCR and Probe Dissociation Analysis Marla Lay, Rajan Mariappan, Jason Gotlib, Lisa Dietz, Siby Sebastian,

A Novel Method for Creating Artificial Mutant Samples for Performance Evaluation and Quality Control in Clinical Molecular Genetics Michael Jarvis, Ramaswamy.

Mutation Detection of Epidermal Growth Factor Receptor and KRAS Genes Using the Smart Amplification Process Version 2 from Formalin-Fixed, Paraffin-Embedded.

DNA and RNA References for qRT-PCR Assays in Exfoliated Cervical Cells

Performance and Clinical Evaluation of a Sensitive Multiplex Assay for the Rapid Detection of Common NPM1 Mutations Michael Hafez, Fei Ye, Keith Jackson,

Rapid and Sensitive Real-Time Polymerase Chain Reaction Method for Detection and Quantification of 3243A>G Mitochondrial Point Mutation Rinki Singh,

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.

Rapid Mutation Screening for HRPT2 and MEN1 Mutations Associated with Familial and Sporadic Primary Hyperparathyroidism Viive M. Howell, John W. Cardinal,

Validation of High-Resolution DNA Melting Analysis for Mutation Scanning of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Marie-Pierre.

Amplification Refractory Mutation System, a Highly Sensitive and Simple Polymerase Chain Reaction Assay, for the Detection of JAK2 V617F Mutation in Chronic.

KRAS Genotyping of Paraffin-Embedded Colorectal Cancer Tissue in Routine Diagnostics Wilko Weichert, Christiane Schewe, Annika Lehmann, Christine Sers,

A Rapid and Reliable Test for BRCA1 and BRCA2 Founder Mutation Analysis in Paraffin Tissue Using Pyrosequencing Liying Zhang, Tomas Kirchhoff, Cindy.

A Real-Time PCR Assay for the Simultaneous Detection of Functional N284I and L412F Polymorphisms in the Human Toll-Like Receptor 3 Gene Robert A. Brown,

Rapid Polymerase Chain Reaction-Based Detection of Epidermal Growth Factor Receptor Gene Mutations in Lung Adenocarcinomas Qiulu Pan, William Pao, Marc.

Improved Detection of KIT Exon 11 Duplications in Formalin-Fixed, Paraffin-Embedded Gastrointestinal Stromal Tumors Jerzy Lasota, Bartosz Wasag, Sonja.

A Novel and Rapid Method of Determining the Effect of Unclassified MLH1 Genetic Variants on Differential Allelic Expression Sheron Perera, Brian Li,

Evaluation of High-Resolution Melting Analysis as a Diagnostic Tool to Detect the BRAF V600E Mutation in Colorectal Tumors Martin Pichler, Marija Balic,

Karen Snow-Bailey, Ph.D., 1961–2006

Comparison of Sanger Sequencing, Pyrosequencing, and Melting Curve Analysis for the Detection of KRAS Mutations Athanasios C. Tsiatis, Alexis Norris-Kirby,

Detection of BRCA1 and BRCA2 Ashkenazi Jewish Founder Mutations in Formalin- Fixed Paraffin-Embedded Tissues Using Conventional PCR and Heteroduplex/Amplicon.

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

Identification of Cystic Fibrosis Variants by Polymerase Chain Reaction/Oligonucleotide Ligation Assay Karen M. Schwartz, Lisa L. Pike-Buchanan, Kasinathan.

Presentation transcript:

A Multicenter Blinded Study to Evaluate KRAS Mutation Testing Methodologies in the Clinical Setting Vicki Whitehall, Kayla Tran, Aarti Umapathy, Fabienne Grieu, Chelsee Hewitt, Tiffany-Jane Evans, Tuty Ismail, Wei Qi Li, Peter Collins, Paul Ravetto, Barbara Leggett, Manuel Salto-Tellez, Richie Soong, Stephen Fox, Rodney J. Scott, Alexander Dobrovic, Barry Iacopetta The Journal of Molecular Diagnostics Volume 11, Issue 6, Pages 543-552 (November 2009) DOI: 10.2353/jmoldx.2009.090057 Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Frequency of KRAS mutation detection for frozen and FFPE primary CRC samples among the different test sites. Samples were deemed wild-type for KRAS when none of the centers or one center only detected a mutation. The consensus for presence of KRAS mutation was when five or more centers detected a mutation in that sample. The Journal of Molecular Diagnostics 2009 11, 543-552DOI: (10.2353/jmoldx.2009.090057) Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Mutation detection by using SSCP, HRM, and dideoxy sequencing. Raw data were shown for frozen sample 55 (F55). Where a faint band was detected by SSCP (A; −, negative control; +, positive control), a clear difference in melt temperature was detected by HRM 82 bp assay (B, mutant indicated by arrows) and subtle variant peak identified by dideoxy sequencing (C). Similarly, a mutation in FFPE sample 51 (P51) estimated to have a 10% tumor cell content is shown by using SSCP (D), HRM 82 bp assay (E, mutant indicated by arrows), and dideoxy sequencing (F). The Journal of Molecular Diagnostics 2009 11, 543-552DOI: (10.2353/jmoldx.2009.090057) Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions