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Updated: Jan 19, 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

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Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing

Diantha Terlouw1, Manon Suerink1, Sunny S Singh2

  • 1Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

European Journal of Human Genetics : EJHG
|September 19, 2019
PubMed

Insights

Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) prevalence increases with adenoma count. Genetic testing is advised for patients with over 10 adenomas under 60 or over 20 adenomas under 70.

Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) are hereditary conditions predisposing to colorectal cancer.
  • Accurate diagnosis and genetic testing are crucial for risk stratification and management.

Purpose of the Study:

  • To determine the prevalence of APC-associated FAP and biallelic MUTYH-associated MAP in a large patient cohort.
  • To identify factors influencing the prevalence of these polyposis syndromes.
  • To establish guidelines for genetic testing in at-risk individuals.

Main Methods:

  • Retrospective analysis of 2082 patient application forms for APC and MUTYH variant testing (1992-2017).
  • Multivariate multinomial logistic regression analysis to identify predictive factors for variant detection.
  • Examination of prevalence based on adenoma count, age at diagnosis, and year of diagnosis.

Main Results:

  • APC variant prevalence significantly increases with adenoma count.
  • MAP shows peak prevalence in individuals with 50-99 adenomas.
  • A decline in variant detection rates over time was observed.
  • 22% of patients with FAP-related extracolonic manifestations had a pathogenic variant.
  • High detection rates (>10%) for patients with >10 adenomas (age <60) and >20 adenomas (age <70).

Conclusions:

  • APC and MUTYH genetic testing is recommended for patients meeting specific adenoma count and age criteria.
  • Other clinical indicators, including extracolonic manifestations and family history, warrant genetic testing even if criteria are not met.
  • Genetic testing plays a vital role in diagnosing and managing hereditary polyposis syndromes.

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