Abstract
The genetic background is unknown for the 50-60% of the HNPCC families, who fulfill the Amsterdam criteria, but do not have a mutation in an MMR gene, and is referred to as FCCTX. This study reviews the clinical, morphological and molecular characteristics of FCCTX, and discusses the molecular genetic methods used to localize new FCCTX genes, along with an overview of the genes and chromosomal areas that possibly relate to FCCTX. FCCTX is a heterogeneous group, mainly comprising cases caused by single high-penetrance genes, or by multiple low-penetrance genes acting together, and sporadic CRC cases. FCCTX differs in clinical, morphological and molecular genetic characteristics compared to LS, including a later age of onset, distal location of tumours in the colon, lower risk of developing extracolonic tumours and a higher adenoma/carcinoma ratio, which indicates a slower progression to CRC. Certain characteristics are shared with sporadic CRC, e.g. similarities in gene expression and a high degree of CIN+, with significanly increased 20q gain in FCCTX. Other molecular characteristics of FCCTX include longer telomere length and hypomethylation of LINE-1, both being a possible explanation for CIN+. Some genes in FCCTX families (RPS20, BMPR1A, SEMA4A) have been identified by using a combination of linkage analysis and sequencing. Sequencing strategies and subsequent bioinformatics are improving fast. Exome sequencing and whole genome sequencing are currently the most promising tools. Finally, the involvement of CNV’s and regulatory sequences are widely unexplored and would be interesting for further investigation in FCCTX.
Keywords: Amsterdam positive, Colorectal cancer, Familial cancer, FCCTX, HNPCC, Microsatellite stable, MMR negative.
Current Genomics
Title:Familial Colorectal Cancer Type X
Volume: 18 Issue: 4
Author(s): Diana Bregner Zetner and Marie Luise Bisgaard*
Affiliation:
- Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Blegdamsvej 3C, DK-2200 Copenhagen N,Denmark
Keywords: Amsterdam positive, Colorectal cancer, Familial cancer, FCCTX, HNPCC, Microsatellite stable, MMR negative.
Abstract: The genetic background is unknown for the 50-60% of the HNPCC families, who fulfill the Amsterdam criteria, but do not have a mutation in an MMR gene, and is referred to as FCCTX. This study reviews the clinical, morphological and molecular characteristics of FCCTX, and discusses the molecular genetic methods used to localize new FCCTX genes, along with an overview of the genes and chromosomal areas that possibly relate to FCCTX. FCCTX is a heterogeneous group, mainly comprising cases caused by single high-penetrance genes, or by multiple low-penetrance genes acting together, and sporadic CRC cases. FCCTX differs in clinical, morphological and molecular genetic characteristics compared to LS, including a later age of onset, distal location of tumours in the colon, lower risk of developing extracolonic tumours and a higher adenoma/carcinoma ratio, which indicates a slower progression to CRC. Certain characteristics are shared with sporadic CRC, e.g. similarities in gene expression and a high degree of CIN+, with significanly increased 20q gain in FCCTX. Other molecular characteristics of FCCTX include longer telomere length and hypomethylation of LINE-1, both being a possible explanation for CIN+. Some genes in FCCTX families (RPS20, BMPR1A, SEMA4A) have been identified by using a combination of linkage analysis and sequencing. Sequencing strategies and subsequent bioinformatics are improving fast. Exome sequencing and whole genome sequencing are currently the most promising tools. Finally, the involvement of CNV’s and regulatory sequences are widely unexplored and would be interesting for further investigation in FCCTX.
Export Options
About this article
Cite this article as:
Zetner Bregner Diana and Bisgaard Luise Marie*, Familial Colorectal Cancer Type X, Current Genomics 2017; 18 (4) . https://dx.doi.org/10.2174/1389202918666170307161643
DOI https://dx.doi.org/10.2174/1389202918666170307161643 |
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
-
Anaesthesia in Cancer Surgery: Can it Affect Cancer Survival?
Current Clinical Pharmacology Editorial: Role of Cancer Stem Cells in Common Gastrointestinal Cancers: From Pathogenesis to Therapeutic Targets
Current Stem Cell Research & Therapy Has the Two Week Rule Improved Cancer Detection Rates for Gastrointestinal Cancers? A Systematic Literature Review
Current Cancer Therapy Reviews Pharmacologic Role of Vitamin D Natural Products
Current Vascular Pharmacology Nano-Based Therapy for Treatment of Skin Cancer
Recent Patents on Anti-Infective Drug Discovery Chemistry, Stability and Bioavailability of Resveratrol
Medicinal Chemistry Efficacy and Safety of the Combination of Docetaxel (Taxotere®) with Targeted Therapies in the Treatment of Solid Malignancies
Current Drug Targets The Role of Cdc25A in the Regulation of Cell Proliferation and Apoptosis
Anti-Cancer Agents in Medicinal Chemistry Smart Nanoengineered Polymeric Capsules as Ideal Pharmaceutical Carriers
Current Organic Chemistry Recent Advances in New Discovered Molecular Targets in Testicular Germ Cell Tumors
Current Medicinal Chemistry Enzymes Oxidizing the Azo Dye 1-Phenylazo-2-Naphthol (Sudan I) and their Contribution to its Genotoxicity and Carcinogenicity
Current Drug Metabolism The Clinical Impact of Quantitative Cell-free DNA, KRAS, and BRAF Mutations on Response to Anti-EGFR Treatment in Patients with Metastatic Colorectal Cancer
Current Pharmaceutical Design The Roles of Chromatin Remodeling Proteins in Cancer
Current Protein & Peptide Science Genomic Organization and Control of the Grb7 Gene Family
Current Genomics A Carboxylesterase 2 Gene Polymorphism as Predictor of Capecitabine on Response and Time to Progression
Current Drug Metabolism Mesenchymal Stem Cells: Key Actors in Tumor Niche
Current Stem Cell Research & Therapy Recent Advances in Positron Emission Tomography (PET) Imaging of Biomolecules: From Chemical Labeling to Cancer Diagnostics
Mini-Reviews in Organic Chemistry Emerging Drug Target In Pancreatic Cancer: Placing Sirtuin 1 on the Canvas
Current Cancer Drug Targets Is Src a Viable Target for Treating Solid Tumours?
Current Cancer Drug Targets (Iso)Flav(an)ones, Chalcones, Catechins, and Theaflavins as Anticarcinogens: Mechanisms, Anti-Multidrug Resistance and QSAR Studies
Current Medicinal Chemistry