The effectiveness of cancer screening in individuals with POLE and POLD1 mutations are still unclear. Recommendations have been extrapolated from cancer screening studies in other related hereditary cancer syndromes such as Lynch syndrome, MAP and attenuated FAP.
Data suggests polyposis may be more severe in POLE mutation carriers.rr For individuals with significant polyps (3 before 30 or >10 lifetime), recommendations are based on MUTYH associated polyposis (MAP) and includes colectomy when polyp burden becomes unmanageable.r
No evidence of benefit in this population at this time.r
There is no evidence to support a survival benefit from transvaginal ultrasound (TVU) and aspiration biopsy. Where possible, surveillance should be offered in the context of a clinical trial.
There are no studies to show the efficacy of gastrointestinal endoscopy in reducing the risk for duodenal cancer. There is an increased risk for duodenal polyps and cancer and surveillance has been recommended on the basis of the similarities of the MUTYH associated polyposis (MAP) phenotype and attenuated familial adenomatous polyposis (FAP).r