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

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

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
Statistical Considerations for Immunohistochemistry Panel Development after Gene Expression Profiling of Human Cancers  Rebecca A. Betensky, Catherine.
High-Throughput Homogeneous Mass Cleave Assay Technology for the Diagnosis of Autosomal Recessive Parkinson's Disease  Christopher Schroeder, Michael.
Natalia Kholod, Jacques Boniver, Philippe Delvenne 
Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing  Jonathan A.
Kirby Siemering, Shehnaaz S. M. Manji, Wendy M
Molecular Genetics of Pediatric Soft Tissue Tumors
A Multiplex SNaPshot Assay as a Rapid Method for Detecting KRAS and BRAF Mutations in Advanced Colorectal Cancers  Sandrine Magnin, Erika Viel, Alice.
Wanlong Ma, Hagop Kantarjian, Xi Zhang, Chen-Hsiung Yeh, Zhong J
Mutation Screening in Juvenile Polyposis Syndrome
KRAS, NRAS, PIK3CA Exon 20, and BRAF Genotypes in Synchronous and Metachronous Primary Colorectal Cancers  Katharina Balschun, Jochen Haag, Ann-Kathrin.
The APC I1307K Allele and BRCA-Associated Ovarian Cancer Risk
Philippe Szankasi, Mohamed Jama, David W. Bahler 
Molecular Validation of the Modified Vienna Classification of Colorectal Tumors  Tamotsu Sugai, Wataru Habano, Noriyuki Uesugi, Yu-Fei Jiao, Shin-ichi.
A Pyrosequencing-Based Assay for the Rapid Detection of IDH1 Mutations in Clinical Samples  Prashanth Setty, Jennifer Hammes, Thomas Rothämel, Valentina.
Multiplex Pyrosequencing of Two Polymorphisms in DNA Repair Gene XRCC1
Influence of the Duplication of CFTR Exon 9 and Its Flanking Sequences on Diagnosis of Cystic Fibrosis Mutations  Ayman El-Seedy, Tony Dudognon, Frédéric.
A Tumor Sorting Protocol that Enables Enrichment of Pancreatic Adenocarcinoma Cells and Facilitation of Genetic Analyses  Zachary S. Boyd, Rajiv Raja,
Mucinous Differentiation Correlates with Absence of EGFR Mutation and Presence of KRAS Mutation in Lung Adenocarcinomas with Bronchioloalveolar Features 
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
Volume 118, Issue 5, Pages (May 2000)
Mutually Exclusive Promoter Hypermethylation Patterns of hMLH1 and O6- Methylguanine DNA Methyltransferase in Colorectal Cancer  Edward J. Fox, Dermot.
William L. Gerald, M.D., Ph.D, 1954–2008
A Novel COL7A1 Gene Mutation in an Iranian Individual Suffering Dystrophic Epidermolysis Bullosa  Hamid Galehdari, Gholamreza Mohammadian, Somayeh Azmoon,
Low Copy Number DNA Template Can Render Polymerase Chain Reaction Error Prone in a Sequence-Dependent Manner  Mansour Akbari, Marianne Doré Hansen, Jostein.
Kyong-Ah Yoon, Sohee Park, Sang Hee Lee, Jin Hee Kim, Jin Soo Lee 
SeqSharp The Journal of Molecular Diagnostics
Detection of Exon 12 Mutations in the JAK2 Gene
Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing  Gemma Armengol, Virinder K. Sarhadi,
Catherine E. Keegan, Anthony A. Killeen 
Identification of Novel Missense Mutations of Cardiac Ryanodine Receptor Gene in Exercise-Induced Sudden Death at Autopsy  Wendy Creighton, Renu Virmani,
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.
BRAF Mutation Testing in Solid Tumors
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.
Iris Schrijver, Tiffanee J. Lenzi, Carol D. Jones, Marla J
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 Rapid, Sensitive Assay to Detect EGFR Mutation in Small Biopsy Specimens from Lung Cancer  Yasushi Yatabe, Toyoaki Hida, Yoshitsugu Horio, Takayuki.
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
Sarah E. Kerr, Cheryl B. Thomas, Stephen N. Thibodeau, Matthew J
Standard Mutation Nomenclature in Molecular Diagnostics
Multiple Sequence Variants in Hereditary Hemorrhagic Telangiectasia Cases  Jamie McDonald, Friederike Gedge, Allene Burdette, James Carlisle, Changkuoth.
Amplification Refractory Mutation System, a Highly Sensitive and Simple Polymerase Chain Reaction Assay, for the Detection of JAK2 V617F Mutation in Chronic.
Katy Hanlon, Lorna W. Harries, Sian Ellard, Claudius E. Rudin 
KRAS Genotyping of Paraffin-Embedded Colorectal Cancer Tissue in Routine Diagnostics  Wilko Weichert, Christiane Schewe, Annika Lehmann, Christine Sers,
Feras M. Hantash, Arlene Rebuyon, Mei Peng, Joy B
A Rapid and Reliable Test for BRCA1 and BRCA2 Founder Mutation Analysis in Paraffin Tissue Using Pyrosequencing  Liying Zhang, Tomas Kirchhoff, Cindy.
A Novel Arginine→Serine Mutation in EDA1 in a Japanese Family with X-Linked Anhidrotic Ectodermal Dysplasia  Noriaki Aoki, Kaoru Ito, Toshiaki Tachibana,
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.
Meiotic Microdeletion Breakpoints in the BRCA1 Gene Are Significantly Associated with Symmetric DNA-Sequence Elements  Beatrice Schmucker, Michael Krawczak 
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,
Hirokatsu Yanagihori, Noritaka Oyama, Koichiro Nakamura, Fumio Kaneko 
KIT Gene Deletions at the Intron 10−Exon 11 Boundary in GI Stromal Tumors  Christopher L. Corless, Laura McGreevey, Ajia Town, Arin Schroeder, Troy Bainbridge,
Xiangfeng Cui, Helen Feiner, Honghua Li 
Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene  Feras M. Hantash, Joy B. Redman,
Evaluation of Markers for CpG Island Methylator Phenotype (CIMP) in Colorectal Cancer by a Large Population-Based Sample  Shuji Ogino, Takako Kawasaki,
Monique A. Johnson, Marvin J. Yoshitomi, C. Sue Richards 
Lung Adenocarcinoma Harboring Mutations in the ERBB2 Kinase Domain
CpG Methylation Analysis—Current Status of Clinical Assays and Potential Applications in Molecular Diagnostics  Antonia R. Sepulveda, Dan Jones, Shuji.
Presentation transcript:

Analysis of Molecular Alterations in Left- and Right-Sided Colorectal Carcinomas Reveals Distinct Pathways of Carcinogenesis  Tamotsu Sugai, Wataru Habano, Yu-Fei Jiao, Mitsunori Tsukahara, Yuichiro Takeda, Koki Otsuka, Shin-ichi Nakamura  The Journal of Molecular Diagnostics  Volume 8, Issue 2, Pages 193-201 (May 2006) DOI: 10.2353/jmoldx.2006.050052 Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 a: Relationship of mutations in p53, Ki-ras, and APC in LOH-high status tumors based on tumor location. b: Relationship of mutations in p53, Ki-ras, and APC in LOH-low status tumors based on tumor location. c: Relationship of mutations in p53, Ki-ras, and APC in CIMP-high status tumors based on tumor location. The Journal of Molecular Diagnostics 2006 8, 193-201DOI: (10.2353/jmoldx.2006.050052) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Frequencies of methylation of MINTI, MINT2, MINT31, MLH-1, MGMT, p14, p16, and RASSF1A promoters for left- and right-sided cancers. The Journal of Molecular Diagnostics 2006 8, 193-201DOI: (10.2353/jmoldx.2006.050052) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 A representative example of molecular alterations in left-sided cancer. b, d, f, h, and i: Multiple LOHs were seen (arrowhead). Although methylation at MINT 1 was found, MINT2, MINT31, p16, p14 (not shown), and RASSF1A promoters were not methylated. Furthermore, mutations of p53, Ki-ras, and APC genes were found (arrowhead). k: A GGC to GAC transition in Ki-ras codon 12 was found, resulting in a Gly to Asp substitution (sequence by reverse primer). l: A CTG to CAG transversion in exon 5 of p53 gene was observed. m: Finally, a CGA to TGA transition in codon 805 of APC gene was found, resulting in a stop codon. The three detectable mutated nucleotides in tumor DNA are indicated by arrows in the photograph (k, l, and m). The Journal of Molecular Diagnostics 2006 8, 193-201DOI: (10.2353/jmoldx.2006.050052) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 4 A representative example of molecular alterations in right-sided cancer. b, d, and f: Multiple LOHs were seen (arrowhead). Arrowheads indicate LOH. k, l, m, o, p, q, and r: In addition, multiple promoter regions were methylated (arrowhead). However, the p53 gene was not mutated (not shown). The Journal of Molecular Diagnostics 2006 8, 193-201DOI: (10.2353/jmoldx.2006.050052) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 5 The molecular profile of left- and right-sided colorectal cancers. The Journal of Molecular Diagnostics 2006 8, 193-201DOI: (10.2353/jmoldx.2006.050052) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions