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

ABSTRACT: This study aimed to determine the prevalence of APC-associated familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) in a large cohort, taking into account factors as adenoma count and year of diagnosis. All application forms used to send patients in for APC and MUTYH variant analysis between 1992 and 2017 were collected (n = 2082). Using the data provided on the application form, the APC and biallelic MUTYH prevalence was determined and possible predictive factors were examined using multivariate multinomial logistic regression analysis in SPSS. The prevalence of disease causing variants in the APC gene significantly increases with adenoma count while MAP shows a peak prevalence in individuals with 50-99 adenomas. Logistic regression analysis shows significant odds rat

SUBMITTER: Terlouw D 

PROVIDER: S-EPMC6974599 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature