Abstract
MUTYH Associated Polyposis (MAP), a Polyposis predisposition caused by biallelic mutations in the Base Excision Repair (BER) gene MUTYH, confers a marked risk of colorectal cancer (CRC). The MAP phenotype is difficult to distinguish from other hereditary CRC syndromes. Especially from Familial Adenomatous Polyposis (FAP) and to a lesser extend Lynch Syndrome, which are caused by germline mutations in the APC and Mismatch Repair (MMR) genes, respectively. Here we review research findings regarding MUTYH interactions, genotypic and phenotypic characteristics of MAP, as well as surveillance and treatment of the disease. The applied papers, published between 1/1 2002- 1/2 2008, were found through PubMed. The exact role of MUTYH in CRC tumorgenesis is still uncertain, although MAP tumors show distinct molecular features, including somatic G:C > T:A transversions in the APC gene. Furthermore, cooperation between the BER and the MMR systems exists, as MUTYH interacts with MMR gene-products. Possibly, monoallelic defects in both pathways are of significance to CRC development. Specific MUTYH variants are found to be characteristic in distinct ethnic populations, which could facilitate future genetic screening. Knowledge concerning functional consequences of many MUTYH germline mutations remains sparse. Most thoroughly investigated are the two most common MUTYH variants, Y179C and G396D, both generating dysfunctional gene products. Phenotypic features of MAP include: development of 10-100 colorectal adenomas, debuting at 46-47 years, often CRC at time of clinical diagnosis, and in some, development of extracolonic manifestations.
Keywords: Colorectal cancer, MUTYH associated polyposis, The MUTYH gene, base excision repair, familial adenomatous polyposis, lynch syndrome
Current Genomics
Title: MUTYH Associated Polyposis (MAP)
Volume: 9 Issue: 6
Author(s): M. L.M. Poulsen and M. L. Bisgaard
Affiliation:
Keywords: Colorectal cancer, MUTYH associated polyposis, The MUTYH gene, base excision repair, familial adenomatous polyposis, lynch syndrome
Abstract: MUTYH Associated Polyposis (MAP), a Polyposis predisposition caused by biallelic mutations in the Base Excision Repair (BER) gene MUTYH, confers a marked risk of colorectal cancer (CRC). The MAP phenotype is difficult to distinguish from other hereditary CRC syndromes. Especially from Familial Adenomatous Polyposis (FAP) and to a lesser extend Lynch Syndrome, which are caused by germline mutations in the APC and Mismatch Repair (MMR) genes, respectively. Here we review research findings regarding MUTYH interactions, genotypic and phenotypic characteristics of MAP, as well as surveillance and treatment of the disease. The applied papers, published between 1/1 2002- 1/2 2008, were found through PubMed. The exact role of MUTYH in CRC tumorgenesis is still uncertain, although MAP tumors show distinct molecular features, including somatic G:C > T:A transversions in the APC gene. Furthermore, cooperation between the BER and the MMR systems exists, as MUTYH interacts with MMR gene-products. Possibly, monoallelic defects in both pathways are of significance to CRC development. Specific MUTYH variants are found to be characteristic in distinct ethnic populations, which could facilitate future genetic screening. Knowledge concerning functional consequences of many MUTYH germline mutations remains sparse. Most thoroughly investigated are the two most common MUTYH variants, Y179C and G396D, both generating dysfunctional gene products. Phenotypic features of MAP include: development of 10-100 colorectal adenomas, debuting at 46-47 years, often CRC at time of clinical diagnosis, and in some, development of extracolonic manifestations.
Export Options
About this article
Cite this article as:
Poulsen L.M. M. and Bisgaard L. M., MUTYH Associated Polyposis (MAP), Current Genomics 2008; 9 (6) . https://dx.doi.org/10.2174/138920208785699562
DOI https://dx.doi.org/10.2174/138920208785699562 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced Computational Algorithms and Artificial Intelligence in Clinical Pharmacogenomics
In the era of personalized medicine, understanding the relationship between genetics and drug response is crucial. This issue delves into innovative methodologies, leveraging deep computational analysis and artificial intelligence, to enhance the field of Clinical Pharmacogenomics. The interdisciplinary approach harnesses the power of advanced high-throughput genotyping technologies, sophisticated computational analysis, ...read more
Applications of Single-cell Sequencing Technology in Reproductive Medicine
Single cell sequencing (SCS) technology utilizes individual cells' genetic material to sequence their genome, transcriptome, and epigenetics at the molecular level. It offers insights into cell heterogeneity and enables the study of limited biological materials. Since its recognition as a valuable technique in 2011, single cell sequencing has yielded numerous ...read more
Big Data in Cancer Research
Cancer is a significant threat to human life and health, remaining a highly aggressive killer. It is a leading cause of death worldwide and represents a crucial medical issue for humanity. However, in the past decade, the effectiveness of new synthetic anticancer agents has not matched the current clinical speculation. ...read more
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Intracellular Delivery of Tumor Antigenic Peptides in Biodegradablepolymer Adjuvant for Enhancing Cancer Immunotherapy
Current Medicinal Chemistry Bioactive Chromone Derivatives – Structural Diversity
Current Bioactive Compounds Future Prospect of RNA Interference for Cancer Therapies
Current Drug Targets From Polypharmacology to Target Specificity: The Case of PARP Inhibitors
Current Topics in Medicinal Chemistry Down-Regulation of DDR1 Induces Apoptosis and Inhibits EMT through Phosphorylation of Pyk2/MKK7 in DU-145 and Lncap-FGC Prostate Cancer Cell Lines
Anti-Cancer Agents in Medicinal Chemistry Viral Vectors for Gene-Directed Enzyme Prodrug Therapy
Current Gene Therapy Clinical Pharmacology of Non-Steroidal Anti-Inflammatory Drugs: A Review
Anti-Inflammatory & Anti-Allergy Agents in Medicinal Chemistry Meet Our Editorial Board Member
Venoms and Toxins Literature Review: Use of Family History for Primary Paediatric Care as the Next Step Towards use of Genomics in Healthcare
Current Pediatric Reviews Potential Beneficial Effects of Garlic in Oncohematology
Mini-Reviews in Medicinal Chemistry Exfoliated Epithelial Cells: A Non-Invasive way to Evaluate the Physiological State of Gastrointestinal Epithelium
Recent Patents on Biomedical Engineering (Discontinued) Potential Interactions between miRNAs and Hypoxia: A New Layer in Cancer Hypoxia
Anti-Cancer Agents in Medicinal Chemistry Novel Genetic and Peptide-Based Strategies Targeting the Bcl-2 Family, an Update
Recent Patents on DNA & Gene Sequences Transforming Cancer Epigenetics Using Nutritive Approaches and Noncoding RNAs
Current Cancer Drug Targets Nano-Delivery in Pediatric Tumors: Looking Back, Moving Forward
Anti-Cancer Agents in Medicinal Chemistry Synthesis, Anti-cancer Activity and Mechanism Study of 6-Mercapto-purine Derivatives
Letters in Drug Design & Discovery Yeast as a Model System to Study Trafficking of Small Vesicles Carrying Signal-less Proteins In and Out of the Cell
Current Protein & Peptide Science Aging and DNA Methylation
Current Chemical Biology Novel Anti-Angiogenic Compounds for Application in Tumor Therapy – COP9 Signalosome-Associated Kinases as Possible Targets
Mini-Reviews in Medicinal Chemistry SOCS6 Functions as a Tumor Suppressor by Inducing Apoptosis and Inhibiting Angiogenesis in Human Prostate Cancer
Current Cancer Drug Targets