Mitotic abnormalities precede microsatellite instability in lynch syndrome-associated colorectal tumourigenesis.

ABSTRACT:

Background

Lynch syndrome (LS) is one of the most common hereditary cancer syndromes worldwide. Dominantly inherited mutation in one of four DNA mismatch repair genes combined with somatic events leads to mismatch repair deficiency and microsatellite instability (MSI) in tumours. Due to a high lifetime risk of cancer, regular surveillance plays a key role in cancer prevention; yet the observation of frequent interval cancers points to insufficient cancer prevention by colonoscopy-based methods alone. This study aimed to identify precancerous functional changes in colonic mucosa that could facilitate the monitoring and prevention of cancer development in LS.

Methods

The study material comprised colon biopsy specimens (n = 71) collected during colonoscopy examinations from LS

SUBMITTER: Pussila M 

PROVIDER: S-EPMC11002576 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature