Correspondence on "Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population" by Savatt et al

Lore van Riel; Philip R Jansen; Bart G Boerrigter; R Jeroen A van Moorselaar; Mieke M van Haelst; Rob M F Wolthuis; Irma van de Beek; Arjan C Houweling

doi:10.1016/j.gim.2022.08.033

Correspondence on "Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population" by Savatt et al

Genet Med. 2023 Jan;25(1):158-160. doi: 10.1016/j.gim.2022.08.033. Epub 2022 Nov 16.

Authors

Lore van Riel¹, Philip R Jansen², Bart G Boerrigter³, R Jeroen A van Moorselaar⁴, Mieke M van Haelst⁵, Rob M F Wolthuis⁶, Irma van de Beek⁷, Arjan C Houweling⁸

Affiliations

¹ Amsterdam UMC, Location University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands; Amsterdam UMC, Location Vrije Universiteit Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands. Electronic address: l.vanriel@amsterdamumc.nl.
² Amsterdam UMC, Location University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands; Amsterdam UMC, Location Vrije Universiteit Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands; Vrije Universiteit Amsterdam, Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam, The Netherlands.
³ Amsterdam UMC, Location Vrije Universiteit Amsterdam, Department of Pulmonary Medicine, Amsterdam, The Netherlands.
⁴ Amsterdam UMC, Location Vrije Universiteit Amsterdam, Department of Urology, Amsterdam, The Netherlands.
⁵ Amsterdam UMC, Location University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands; Amsterdam UMC, Location Vrije Universiteit Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands.
⁶ Amsterdam UMC, Location University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands; Amsterdam UMC, Location Vrije Universiteit Amsterdam, Department of Human Genetics, Cancer Center Amsterdam, Amsterdam, The Netherlands.
⁷ Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands.
⁸ Amsterdam UMC, Location University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands. Electronic address: a.houweling@amsterdamumc.nl.

PMID: 36383210
DOI: 10.1016/j.gim.2022.08.033

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't
Comment

MeSH terms

Birt-Hogg-Dube Syndrome* / genetics
Humans
Kidney Neoplasms*
Phenotype
Proto-Oncogene Proteins / genetics
Tumor Suppressor Proteins / genetics

Substances

FLCN protein, human
Proto-Oncogene Proteins
Tumor Suppressor Proteins