MUTYH - Mar 2026

Project title:
Extracolonic cancer risk in MUTYH-associated polyposis (MAP)

Project leaders:

• Maartje Nielsen (m.nielsen@lumc.nl), Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands
• Laura Thomas, Swansea University, UK
• PhD student on the project: Salwa Ben Yahia (s.ben_yahia@lumc.nl), Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands

Project Description:

Pathogenic variants in MUTYH have been linked to adenomatous polyposis, duodenal adenomas and colorectal (CRC) tumors. However, evidence suggests that individuals with MUTYH variants may be at an increased risk of other extra colonic tumors. The aim of this project is to further explore extracolonic cancer risk in MAP by:

Gathering prospective data on extra colonic tumors in:

1. MAP patients known in the LUMC
2. MAP patients from the Dutch Nestor registry and possibly the Dutch STOET registry
3. MAP patients from the Swansea University database (MAP prospective study), led by Laura Thomas
4. Cancer risks in MAP patients in the UK biobank
5. Describing geno- phenotype correlations associated with extracolonic cancer risk

We are seeking to connect with clinicians and researchers who have clinical information on MAP patients. Whether you have follow-up data on cancer development, clinical outcome or tumor characterization we would be eager to collaborate and share resources or data.

Both ERN GENTURIS members and non-members are welcome to participate.

Start date: March 2026

Duration: 2 years

Funder: -