Related Experiment Video
Updated: Jul 19, 2026
28:15
Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
Published on: July 28, 2010
Genetics of colonic cancer
1Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebr., USA. htlynch@creighton.edu
Digestion
|August 15, 1998
Summary
Discoveries in molecular genetics have advanced understanding of hereditary colorectal cancer (CRC). Identifying germ-line mutations in syndromes like familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer improves screening and prevention strategies.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Hereditary colorectal cancer (CRC) accounts for 10-20% of all CRC cases.
- Advances in molecular genetics have significantly increased research in inherited CRC syndromes.
- Familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) are key Mendelian-inherited CRC syndromes.
Purpose of the Study:
- To review recent molecular genetic discoveries in hereditary colorectal cancer.
- To highlight the genetic basis of FAP and HNPCC.
- To discuss the implications of these findings for patient screening and chemoprevention.
Main Methods:
- Review of recent literature on molecular genetics of hereditary CRC.
- Identification of key genes associated with FAP (APC) and HNPCC (hMSH2, hMLH1, hPMS1, hPMS2, hMSH6/GTBP).
- Analysis of genomic and clinical heterogeneity within hereditary CRC syndromes.
Main Results:
- The APC germ-line mutation is identified as the cause of FAP, with intragenic mutations leading to attenuated forms.
- Several mutator genes (hMSH2, hMLH1, hPMS1, hPMS2, hMSH6/GTBP) have been identified in HNPCC.
- Molecular discoveries are providing new insights into CRC pathogenesis.
Conclusions:
- Germ-line mutations in specific genes underlie major hereditary CRC syndromes.
- Understanding these genetic underpinnings is crucial for diagnosing and managing affected individuals.
- Future strategies include enhanced screening and potential chemoprevention for mutation carriers.
Related Concept Videos
02:21Cancers Originate from Somatic Mutations in a Single Cell
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
02:07Tumor Progression
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
01:33Cancer-Critical Genes I: Proto-oncogenes
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...
02:59Cancer Prevention
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
02:21Cancers Originate from Somatic Mutations in a Single Cell
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
01:33Cancer-Critical Genes I: Proto-oncogenes
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...