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Related Concept Videos

Appendicitis01:19

Appendicitis

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...
Pleiotropy01:33

Pleiotropy

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,...
Inflammatory Bowel Disease V: Surgical Management01:21

Inflammatory 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:
Tumor Progression02:07

Tumor 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...
Abnormal Proliferation02:23

Abnormal 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...
Inflammatory Bowel Disease III: Crohn's Disease01:25

Inflammatory 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...

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Related Experiment Video

Updated: Jun 4, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

Familial adenomatous polyposis.

Mansoor-ul-Haq1, Nabiha Faisal

  • 1Department of Gastroenterology, Liaquat National Hospital, Karachi. mansoor643@yahoo.com

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|February 1, 2011
PubMed
Summary

Familial adenomatous polyposis (FAP), a genetic condition causing numerous colon polyps, was diagnosed in a 38-year-old woman with colon cancer. Her younger son also inherited FAP, highlighting the importance of genetic screening.

Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • Familial adenomatous polyposis (FAP) is an inherited disorder characterized by the development of hundreds to thousands of adenomatous polyps in the colon.
  • It is caused by germline mutations in the adenomatous polyposis coli (APC) gene and accounts for approximately 1% of all colorectal tumors.
  • Early diagnosis and management are crucial to prevent malignant transformation.

Observation:

  • A 38-year-old female presented with symptoms including abdominal pain, diarrhea, and iron deficiency anemia.
  • Colonoscopy revealed extensive polyposis throughout the colon, sparing the rectum, and an ulcerative tumor in the sigmoid colon.
  • Despite no prior family history of colorectal cancer, the diagnosis of FAP and sigmoid colon adenocarcinoma was established.

Findings:

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Last Updated: Jun 4, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
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Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer

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A Genetically Engineered Mouse Model of Sporadic Colorectal Cancer
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A Genetically Engineered Mouse Model of Sporadic Colorectal Cancer

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  • The patient underwent colectomy with ileorectal anastomosis, followed by chemotherapy and lifelong surveillance.
  • Her younger son was diagnosed with FAP and referred for colectomy, while her elder son had normal colonoscopic findings.
  • Her brother had a single hyperplastic rectal polyp, and her sister declined colonoscopy, indicating variable penetrance or expression within the family.

Implications:

  • This case underscores the importance of considering FAP in young patients presenting with colorectal symptoms, even without a known family history.
  • Genetic counseling and timely surveillance are essential for affected individuals and their at-risk relatives.
  • Proactive management, including prophylactic surgery and lifelong monitoring, can significantly improve outcomes for FAP patients and their families.