Related Experiment Video
Updated: Jun 6, 2026
06:01
A Genetically Engineered Mouse Model of Sporadic Colorectal Cancer
Published on: July 6, 2017
Undefined familial colorectal cancer
Constantinos Pantelis Zambirinis1, George Theodoropoulos, Maria Gazouli
1Constantinos Pantelis Zambirinis, First Propaedeutic Surgical Department, Hippocration University Hospital, School of Medicine, University of Athens, 11527 Athens, Greece.
World Journal of Gastrointestinal Oncology
|December 17, 2010
Summary
Familial colorectal cancer (fCRC) involves genetic predisposition beyond known syndromes, complicating diagnosis. Understanding this "undefined" fCRC is crucial for accurate screening and genetic counseling.
Area of Science:
- Oncology
- Genetics
- Cancer Research
Background:
- Colorectal cancer (CRC) is a heterogeneous disease with varying molecular and clinical features.
- A significant familial component (25-35%) exists in CRC cases, termed familial colorectal cancer (fCRC).
- Known hereditary CRC syndromes account for only a small fraction of fCRC, suggesting other genetic factors.
Purpose of the Study:
- To investigate the complex etiology of familial colorectal cancer (fCRC).
- To differentiate between fCRC and sporadic CRC when clinical data is ambiguous.
- To clarify the role of low-penetrance genes and environmental factors in CRC tumorigenesis.
Main Methods:
- Review of existing literature on CRC genetics and familial clustering.
- Analysis of etiological factors contributing to the "undefined" portion of fCRC.
- Comparative study of molecular profiles and progression pathways in CRC subtypes.
Main Results:
- The majority of familial CRC cases are not explained by known high-penetrance syndromes.
- Low-penetrance genes interacting with environmental factors likely contribute to CRC risk.
- Chance may also play a role in familial cancer clustering.
Conclusions:
- Elucidating the "undefined" fCRC is essential for improved diagnosis and classification.
- Understanding fCRC etiology will refine screening guidelines and genetic counseling strategies.
- Further research is needed to identify specific low-penetrance genes and their environmental interactions in CRC development.
Related Concept Videos
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
01:12Loss of Tumor Suppressor Gene Functions
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
01:12Loss of Tumor Suppressor Gene Functions
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
01:27Diverticular Disease of the Colon
Diverticular disease involves the formation of diverticula—small sac-like outpouchings of the colonic wall—and their complications. It most commonly affects the sigmoid colon due to higher intraluminal pressure and structural vulnerability. It results from structural weakness and increased pressure in the colon, producing pseudodiverticula that may remain silent or progress to inflammation and serious complications.Structure of DiverticulaIn diverticulosis, these outpouchings are...
01:27Inflammatory Bowel Disease I: Ulcerative Colitis
Introduction
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...