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Updated: Feb 19, 2026
06:01
A Genetically Engineered Mouse Model of Sporadic Colorectal Cancer
Published on: July 6, 2017
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Familial Colorectal Cancer Type X
Diana Bregner Zetner1, Marie Luise Bisgaard1
1Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.
Current Genomics
|October 31, 2017
Summary
Familial Colorectal Cancer (FCCTX) without MMR gene mutations presents unique clinical and molecular traits. Ongoing research using advanced sequencing aims to identify new FCCTX genes and understand its genetic heterogeneity.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- 50-60% of Hereditary Non-Polyposis Colorectal Cancer (HNPCC) families meeting Amsterdam criteria lack MMR gene mutations, termed FCCTX.
- FCCTX represents a heterogeneous group including single high-penetrance genes, multiple low-penetrance genes, and sporadic cases.
Purpose of the Study:
- To review clinical, morphological, and molecular characteristics of FCCTX.
- To discuss molecular genetic methods for localizing new FCCTX genes.
- To provide an overview of potential FCCTX-related genes and chromosomal regions.
Main Methods:
- Review of clinical, morphological, and molecular data.
- Discussion of genetic analysis techniques including linkage analysis and sequencing.
- Highlighting advanced methods like exome and whole genome sequencing.
Main Results:
- FCCTX exhibits distinct features from Lynch Syndrome (LS), including later onset, distal tumors, and slower progression.
- Shared characteristics with sporadic Colorectal Cancer (CRC) include gene expression similarities and high chromosomal instability (CIN+).
- Specific molecular findings include longer telomere length and LINE-1 hypomethylation, potentially explaining CIN+.
Conclusions:
- FCCTX is genetically diverse, with identified genes like RPS20, BMPR1A, and SEMA4A in some families.
- Advanced sequencing technologies offer promising avenues for future gene discovery.
- Further investigation into copy number variations (CNVs) and regulatory sequences is warranted.
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