Muir-Torre Phenotype Has a Frequency of DNA Mismatch-Repair-Gene Mutations Similar to That in Hereditary Nonpolyposis Colorectal Cancer Families Defined.

Slides:



Advertisements
Similar presentations
Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.
Advertisements

Lessons from Hereditary Colorectal Cancer
Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.
The Landscape of Microsatellite Instability in Colorectal and Endometrial Cancer Genomes Tae-Min Kim, Peter W. Laird, Peter J. Park Cell Volume 155, Issue.
The Nuclear Pore Complex Mystery and Anomalous Diffusion in Reversible Gels Thomas Bickel, Robijn Bruinsma Biophysical Journal Volume 83, Issue 6, Pages.
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,
Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.
Date of download: 5/31/2016 From: The Hereditary Nonpolyposis Colorectal Cancer Syndrome: Genetics and Clinical Implications[dhelix] Ann Intern Med. 2003;138(7):
Genetic testing for high-risk colon cancer patients1 William M. Grady Gastroenterology Volume 124, Issue 6, Pages (May 2003) DOI: /S (03)
Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal- Dominant Dowling-Degos Disease F. Buket Basmanav, Ana-Maria Oprisoreanu,
The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins The American Journal.
Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.
Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.
Colorectal Pretumor Progression Before and After Loss of DNA Mismatch Repair  Peter Calabrese, Jen-Lan Tsao, Yasushi Yatabe, Reijo Salovaara, Jukka-Pekka.
Volume 118, Issue 5, Pages (May 2000)
A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3  Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti,
Anna Middleton, J. Hewison, R.F. Mueller 
Transmission/Disequilibrium Tests for Extended Marker Haplotypes
Genome-editing Technologies for Gene and Cell Therapy
Anna Middleton, J. Hewison, R.F. Mueller 
Schizophrenia and Affective Disorders—Cosegregation with a Translocation at Chromosome 1q42 That Directly Disrupts Brain-Expressed Genes: Clinical and.
Volume 115, Issue 6, Pages (December 1998)
Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds  Rodney.
Molecular Genetics of Pediatric Soft Tissue Tumors
Detection of Microsatellite Instability in Colorectal Cancer Using an Alternative Multiplex Assay of Quasi-Monomorphic Mononucleotide Markers  Vanessa.
Microsatellite Analysis of Hereditary Nonpolyposis Colorectal Cancer-Associated Colorectal Adenomas by Laser-Assisted Microdissection  Giuseppe Giuffrè,
Crohn Disease: Frequency and Nature of CARD15 Mutations in Ashkenazi and Sephardi/Oriental Jewish Families  Turgut Tukel, Daniel Present, Daniel Rachmilewitz,
Direct Conversion of Skin Cells into Blood: Alchemy or Science?
Volume 141, Issue 1, Pages e23-e26 (July 2011)
Toward a Survey of Somatic Mutation of the NF1 Gene in Benign Neurofibromas of Patients with Neurofibromatosis Type 1  Ingrid Eisenbarth, Kim Beyer, Winfrid.
Geoffrey R. Oxnard, MD, Vincent A. Miller, MD, Mark E
Noralane M Lindor  Clinical Gastroenterology and Hepatology 
Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing  Gemma Armengol, Virinder K. Sarhadi,
De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation  Andrea Tesoriero, Chris Andersen, Melissa Southey, Gino Somers,
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,
Colonic late-onset familial adenomatous polyposis combined with severe duodenal polyposis and familial endometrial cancer  Klaus Günther, MD, Thomas Horbach,
Volume 130, Issue 2, Pages (February 2006)
Analysis of Tumor Cell Evolution in a Melanoma: Evidence of Mutational and Selective Pressure for Loss of p16ink4 and for Microsatellite Instability 
Microsatellite Instability in Benign Skin Lesions in Hereditary Non-Polyposis Colorectal Cancer Syndrome  Victoria J. Swale, Anthony G. Quinn, Veronique.
Susan M. Farrington, Juili Lin-Goerke, Jessica Ling, Yute Wang, John D
GeneTests: Integrating Genetic Services into Patient Care*
Activation of a Cryptic Splice Site of PTEN and Loss of Heterozygosity in Benign Skin Lesions in Cowden Disease  Stephen J. Meltzer, Manfred Wolter  Journal.
Detection of a Peripheral Blood T Cell Clone is an Independent Prognostic Marker in Mycosis Fungoides  Elisabeth A. Fraser-Andrews, Alison J. Woolford,
Cancer Characteristics in Swedish Families Fulfilling Criteria for Hereditary Nonpolyposis Colorectal Cancer  Justo Lorenzo Bermejo, Charis Eng, Kari.
Genome-editing Technologies for Gene and Cell Therapy
Genetic Testing for Hereditary Colorectal Cancer: Challenges in Identifying, Counseling, and Managing High-Risk Patients  Elena M. Stoffel, Anu Chittenden 
Volume 128, Issue 5, Pages (May 2005)
A Different Method in Diagnosis of Multiple Primary Lung Cancer
A Recurrent Expansion of a Maternal Allele with 36 CAG Repeats Causes Huntington Disease in Two Sisters  Franco Laccone, Wilhelm Christian  The American.
847. Eradication of Therapy-Resistant Human Prostate Tumors Using an Ultrasound Guided Site-Specific Cancer Terminator Virus Delivery Approach    Molecular.
Erratum The American Journal of Human Genetics
Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds  Rodney.
Colorectal cancer at a young age
Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11.
A Novel Multiplexing, Polymerase Chain Reaction-Based Assay for the Analysis of Chromosome 18q Status in Colorectal Cancer  Nadina Erill, Anna Colomer,
674. Molecular, Biochemical and Biomechanical Analysis of Articular Cartilage Repaired with Genetically Modified Chondrocytes Expressing Insulin-Like.
Wook Lew  Journal of Investigative Dermatology 
A Second Recombination Hotspot Associated with SHOX Deletions
The Founder Mutation MSH2
Evaluation of Markers for CpG Island Methylator Phenotype (CIMP) in Colorectal Cancer by a Large Population-Based Sample  Shuji Ogino, Takako Kawasaki,
A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23  Young-Ae Lee, Howard P.
Immunohistochemistry versus Microsatellite Instability Testing for Screening Colorectal Cancer Patients at Risk for Hereditary Nonpolyposis Colorectal.
Alice S. Whittemore, Jerry Halpern 
Anna Middleton, J. Hewison, R.F. Mueller 
K. Miura, M. Obama, K. Yun, H. Masuzaki, Y. Ikeda, S. Yoshimura, T
Presentation transcript:

Muir-Torre Phenotype Has a Frequency of DNA Mismatch-Repair-Gene Mutations Similar to That in Hereditary Nonpolyposis Colorectal Cancer Families Defined by the Amsterdam Criteria  Roland Kruse, Arno Rütten, Christof Lamberti, Hamid Reza Hosseiny-Malayeri, Yaping Wang, Corina Ruelfs, Matthias Jungck, Micaela Mathiak, Thomas Ruzicka, Wolfgang Hartschuh, Michele Bisceglia, Waltraut Friedl, Peter Propping  The American Journal of Human Genetics  Volume 63, Issue 1, Pages 63-70 (July 1998) DOI: 10.1086/301926 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 MIN in patients MTS-K10 and MTS-K1a. DNA from peripheral blood (lanes N) and skin tumor tissues (lane T, sebaceous epithelioma; lane T1, sebaceous adenoma; and lane T2, sebaceous epithelioma) was examined by use of microsatellite marker D21S171 and was visualized by autoradiography after separation on a denaturing gel. The American Journal of Human Genetics 1998 63, 63-70DOI: (10.1086/301926) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Feedback: Privacy Policy Feedback
Do Not Sell My Personal Information
About project: SlidePlayer Terms of Service

© 2025 SlidePlayer.com. Inc. All rights reserved.