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Related Concept Videos

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,...
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Mismatch Repair

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Loss of Tumor Suppressor Gene Functions01:12

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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.
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Loss of Tumor Suppressor Gene Functions01:12

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Related Experiment Video

Updated: Jun 23, 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

MUTYH-associated polyposis.

Julian R Sampson1, Natalie Jones

  • 1Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK. sampson@cf.ac.uk

Best Practice & Research. Clinical Gastroenterology
|May 6, 2009
PubMed
Summary
This summary is machine-generated.

MUTYH-associated polyposis (MAP) is an inherited condition causing numerous colon polyps and high colorectal cancer risk. Genetic testing for MUTYH gene mutations aids in diagnosing MAP and guiding family surveillance.

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Published on: July 28, 2010

Related Experiment Videos

Last Updated: Jun 23, 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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Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer

Published on: July 28, 2010

Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • MUTYH-associated polyposis (MAP) is an autosomal recessive disorder.
  • MAP presents with colorectal adenomatous polyps and a high risk of colorectal cancer.
  • MAP shares features with autosomal dominant familial adenomatous polyposis (APC gene mutations).

Purpose of the Study:

  • To characterize the phenotype and natural history of MAP.
  • To highlight the prevalence and clinical significance of MAP.
  • To define indications for MUTYH gene mutation testing.

Main Methods:

  • Review of clinical data and genetic testing results for patients with MAP.
  • Characterization of extracolonic manifestations.
  • Analysis of family history and genetic inheritance patterns.

Main Results:

  • MAP is characterized by colorectal adenomas and a significant risk of colorectal cancer.
  • Extracolonic manifestations include duodenal adenomas/cancer and increased risk of other tumors.
  • MUTYH gene testing is crucial for diagnosis and family management.

Conclusions:

  • MAP is a significant genetic disorder with implications for colorectal and extracolonic cancer risk.
  • Early identification through MUTYH gene testing is vital for patient and family surveillance.
  • Further research is ongoing to fully characterize MAP's natural history.