The effectiveness of cancer screening in individuals with POLE and POLD1 pathogenic variants 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 pathogenic variant 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
There is limited data regarding the appropriate surveillance frequency for individuals with POLE and POLD1 pathogenic variants. The recommendation for 3 yearly surveillance is thought to represent the best balance between risks and benefits of colonoscopy in individuals who have not yet had polyps identified.
There have been no studies providing beneficial evidence for the use of aspirin in POLE and POLD1 pathogenic variant carriers. However, considerable evidence supports the effectiveness of aspirin as risk-reducing medication for CRC in high-risk Lynch syndrome patients (>50% reduction in CRC risk).r Revised guidelines from the Cancer Council Australia have also made a strong recommendation to consider universal aspirin chemoprevention except where contraindicated, especially for those with excess cardiovascular risk.r Therefore, these recommendations have been included for individuals with POLE and POLD1 pathogenic variants.
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. Surveillance recommendations have been based on the risk management guidelines for MUTYH associated polyposis (MAP) and attenuated familial adenomatous polyposis (AFAP).r