title: Early onset of renal cancer in a family with Birt-Hogg-Dubé syndrome.
abstract: Birt-Hogg-Dubé syndrome is a hereditary syndrome characterized by benign disease of skin and lungs and a risk of malignant renal tumors. We describe a clinical and genetic study of a large Dutch family with a novel mutation in the FLCN gene. Renal cancer at very young age occurred in one branch of this family, while in other branches, cutaneous and pulmonary symptoms predominated. A variety of congenital anomalies and connective tissue abnormalities were observed, possibly associated with the gene mutation.
authors.affiliation: Family Cancer Clinic, The Netherlands Cancer Institute/Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands. i.kluijt@nki.nl
authors.forename: I
authors.initials: I
authors.lastname: Kluijt
authors.forename: D
authors.initials: D
authors.lastname: de Jong
authors.forename: H J
authors.initials: HJ
authors.lastname: Teertstra
authors.forename: P H
authors.initials: PH
authors.lastname: Axwijk
authors.forename: J J P
authors.initials: JJ
authors.lastname: Gille
authors.forename: K
authors.initials: K
authors.lastname: Bell
authors.forename: A
authors.initials: A
authors.lastname: van Rens
authors.forename: A W G
authors.initials: AW
authors.lastname: van der Velden
authors.forename: L
authors.initials: L
authors.lastname: Middelton
authors.forename: S
authors.initials: S
authors.lastname: Horenblas