Optimizing genetic testing strategy for suspected attenuated adenomatous polyposis: effective solutions in public health systems.

ABSTRACT:

Background

APC and MUTYH genes are key in hereditary attenuated adenomatous polyposis syndromes. Guidelines recommend genetic testing based on polyp count, often overlooking age despite its impact on polyp prevalence.

Aim

To enhance genetic testing strategies for suspected attenuated adenomatous polyposis by combining polyp count and age in a probability calculator.

Methods

Retrospective study of adult patients referred to NGS genetic testing for suspected attenuated adenomatous polyposis (accumulated history of < 100 adenomas) (discovery cohort, N = 138). Data included age, adenoma count, and test results. A multivariable logistic regression model was developed to associate positive genetic test results with age and adenoma count. The model was externally validated w

SUBMITTER: Garcia-Simon N 

PROVIDER: S-EPMC12084234 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature