Related Experiment Video
Updated: Aug 5, 2026
28:15
Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
Published on: July 29, 2010
Familial adenomatous polyposis
Polymnia Galiatsatos1, William D Foulkes
1Division of Gastroenterology, Department of Medicine, The Sir Mortimer B. Davis Jewish General Hospital, McGill University, Montreal, Quebec, Canada.
The American Journal of Gastroenterology
|February 4, 2006
Summary
Familial adenomatous polyposis (FAP) is an inherited condition causing numerous colorectal polyps and high cancer risk. Early endoscopic screening and prophylactic colectomy are key for managing FAP and preventing colorectal cancer.
Area of Science:
- Genetics and Molecular Biology
- Gastroenterology
- Oncology
Background:
- Familial adenomatous polyposis (FAP) is an autosomal-dominant syndrome linked to APC gene mutations.
- It leads to hundreds of colorectal polyps and nearly inevitable colorectal cancer by age 35-40.
- Associated conditions include gastrointestinal polyps, retinal changes, desmoid tumors, and other cancers.
Purpose of the Study:
- To review the genetic basis, clinical features, and management of FAP.
- To discuss diagnostic approaches and screening recommendations.
- To highlight future challenges in FAP management.
Main Methods:
- Review of existing literature on FAP genetics, clinical presentation, and treatment.
- Analysis of genotype-phenotype correlations.
- Discussion of current screening protocols and prophylactic interventions.
Main Results:
- FAP is caused by APC gene mutations, with variants like Gardner and Turcot syndromes.
- MYH-associated polyposis (MAP) is an autosomal recessive condition with similar polyposis.
- Early screening (ages 10-12) and colectomy are recommended for FAP management.
Conclusions:
- FAP management requires early endoscopic screening and prophylactic surgery.
- Future research should focus on chemoprevention and improved diagnosis/management of extracolonic manifestations.
- Understanding genotype-phenotype correlations aids in personalized patient care.
More Related Videos
Related Concept Videos
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
02:23Abnormal Proliferation
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
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...
01:21Inflammatory Bowel Disease V: Surgical Management
Surgical interventions for inflammatory bowel disease (IBD), which includes ulcerative colitis and Crohn's disease, are essential in managing symptoms and addressing complications. The selection of surgical procedures is contingent upon the specific conditions and complications that stem from these illnesses.
Here are some common surgical interventions for IBD:
Here are some common surgical interventions for IBD:
01:25Inflammatory Bowel Disease III: Crohn's Disease
Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
01:19Appendicitis
Appendicitis is an acute inflammatory condition of the vermiform appendix, most commonly caused by obstruction of its lumen. The appendix is a narrow, blind-ended pouch that extends from the cecum, making it particularly prone to obstruction. Causes include fecaliths, lymphoid hyperplasia (often after viral infections), parasites, tumors, or foreign bodies. This obstruction initiates a cascade of pathological changes.Luminal Obstruction and Early InflammationAfter obstruction, normal mucosal...