Genotype-based prevalence of Birt-Hogg-Dubé syndrome in the healthcare and genomic registry populations – breaking the ‘rare disease’ status?
The phenotype-based prevalence of Birt-Hogg-Dubé syndrome (BHD) is commonly estimated at 1 in 200,000–500,000. However, we demonstrate that BHD-causing FLCN variants are 75 to 180 times more prevalent in the multi-ethnic large genomic registry population. We highlight the urgent need for updated prevalence and penetrance estimates for BHD and other tumor suppressor gene syndromes, particularly among underrepresented non-European populations.
Authors
- Ireneusz Stolarek (ORCID: https://orcid.org/0000-0002-1100-2138)
- N. Rajan
- Katarzyna Klonowska (ORCID: https://orcid.org/0000-0001-9494-8801)
- P. M. Kozlowski
- Kuniaki Seyama
- Marcin Drzewiecki
- Luiza Handschuh
- Izabela Broniarek
- Marek Figlerowicz
- David J. Kwiatkowski
Institutions
- Brigham and Women's Hospital (US)
- Harvard University (US)
- Juntendo University (JP)
- NIHR Newcastle Biomedical Research Centre (GB)
- Cancer Genetics (United States) (US)
- Institute of Bioorganic Chemistry, Polish Academy of Sciences (PL)
- Newcastle University (GB)
Publication Details
- Journal
- npj Genomic Medicine
- Published
- 2026-03-27
- DOI
- https://doi.org/10.1038/s41525-026-00563-2
- Primary Topic
- Renal cell carcinoma treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00