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Genotype-based prevalence of Birt-Hogg-Dubé syndrome in the healthcare and genomic registry populations – breaking the ‘rare disease’ status?

Lookup NU author(s): Professor Neil RajanORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

© The Author(s) 2026.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.

Publication metadata

Author(s): Broniarek I, Kwiatkowski DJ, Rajan N, Seyama K, Drzewiecki M, Stolarek I, Handschuh L, Figlerowicz M, Kozlowski P, Klonowska K

Publication type: Note

Publication status: Published

Journal: npj Genomic Medicine

Year: 2026

Volume: 11

Issue: 1

Online publication date: 27/03/2026

Acceptance date: 10/03/2026

ISSN (electronic): 2056-7944

Publisher: Nature Research

URL: https://doi.org/10.1038/s41525-026-00563-2

DOI: 10.1038/s41525-026-00563-2

Data Access Statement: The gnomAD datasets analyzed in this study are available in the gnomAD database, https://gnomad.broadinstitute.org/. The datasets generated by the Genomic MapofPoland Project and analyzed during the current study are available from the corresponding author on reasonable request.

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