N39: The Prospective Lynch Syndrome Database (PLSD)

P. Møller

PI to the PLSD


Aim: Compile existing prospective data on carriers of pathogenic MMR variants.

Method: Inclusion: 1) Demonstrated monoallelic germline carriers of pathogenic variant of either of the genes MLH1, MSH2, MSH6 or PMS2 listed in the InSiGHT database. 2) Determined to be at risk for Lynch Syndrome for any reason. 3) Inclusion point: First planned and carried out prospective colonoscopy. 4) One or more follow-up years.

Patient information: Age, gender, pathogenic variant, reporting centre, age and ICD9 diagnoses of all cancers (before, at or after inclusion), organs removed when.

Events scored: All prospectively diagnosed cancers after inclusion by ICD9 code and age at diagnosis. Age at death.

Information not yet analysed: polyps removed, stage at colorectal cancer and time since last colonoscopy.

For detailed protocol see https://ehtg.org/

Results: Incidences of cancer by age, genetic variant and gender. Survival after cancer. Results of intervention (international guidelines).

Conclusion: The reports migrate knowledge on Lynch syndrome from expert opinions based mainly on retrospective studies to assumption-free empirical observations in carriers subjected to follow-up according to accepted clinical guidelines. The interactive website www.PLSD.eu returning risk for any single case when indicating age, gender and gene is referred to for clinical use by InSiGHT and others.