BLM - Jul 2025

Project title:
The somatic mutational landscape of BLM-deficient tumours: finding clues for future therapeutic opportunities

Project leaders:
Richarda de Voer and colleagues from Radboudumc (NL), Ramsey Bowden (Univ. Cambridge, UK)

Project Description:

Bloom syndrome is an ultra-rare recessive syndrome (~300 cases described world-wide) caused by Biallelic gPVs in BLM. Individuals with Bloom syndrome have an increased risk of haematological and solid malignancies.

The aim of this project is a better description of phenotypic spectrum of individuals with Bloom syndrome in Europe and to provide a comprehensive overview of the mutational processes driving BLM tumour development.

Start date: July 2025

Duration: 2 years

Funder: Radboud Oncologie Fonds / Bloom Syndrome association

Invitation for ERN GENTURIS members to participate:

Do you have Bloom syndrome cases at your centre?

• Paediatric or adult (with or without tumours)
  • In case of tumours, are tumour tissues available for WES and IHC?

If you can contribute, please contact Richarda.deVoer@radboudumc.nl