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Related Concept Videos

Tumor Progression02:07

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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.
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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...
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Related Experiment Video

Updated: Mar 15, 2026

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

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Familial Adenomatous Polyposis.

Alexia Waller1, Sarah Findeis2, Michael J Lee3

  • 1Department of Pathology, Baylor University Medical Center, Dallas, Texas, United States.

Journal of Pediatric Genetics
|September 13, 2016
PubMed
Summary

Familial adenomatous polyposis (FAP) is an inherited disorder causing numerous gastrointestinal polyps due to APC gene mutations. Patients face a high risk of colorectal cancer and may develop other tumors.

Keywords:
Gardner syndromeTurcot syndromefamilial adenomatous polyposis

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Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • Familial adenomatous polyposis (FAP) is an autosomal dominant genetic disorder.
  • It stems from germline mutations in the adenomatous polyposis coli (APC) gene.
  • FAP is characterized by the development of numerous adenomatous polyps in the gastrointestinal tract.

Purpose of the Study:

  • To review the pathology of FAP.
  • To discuss the epidemiology of FAP.
  • To explore the genetic features of FAP.

Main Methods:

  • Literature review of pathology, epidemiology, and genetics of FAP.
  • Analysis of existing data on APC gene mutations.
  • Synthesis of information on clinical manifestations and cancer risks.

Main Results:

  • FAP involves hundreds to thousands of adenomas in the GI tract.
  • Extraintestinal manifestations like thyroid, soft tissue, and brain tumors can occur.
  • Colorectal carcinoma is an inevitable outcome by the fourth decade.

Conclusions:

  • Understanding FAP's pathology, epidemiology, and genetics is crucial.
  • Early detection and management are vital for FAP patients.
  • Genetic counseling and surveillance are important for affected families.