Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families

Antonetta C. Houweling; L. M. Gijezen; M. A. Jonker; M. B. A. van Doorn; Rogier A. Oldenburg; K. Y. van Spaendonck-Zwarts; E. M. Leter; Theo A. Mvan Os; Nicole C T van Grieken; E. H. Jaspars; M. M. de Jong; Ernie M. H. F. Bongers; Paul C. Johannesma; Pieter E. Postmus; R. Jeroen A. van Moorselaar; J-H T. M. van Waesberghe; Theo M. Starink; M. A. M. van Steensel; Johan J. P. Gille; Fred H. Menko

doi:10.1038/bjc.2011.463

Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families

Antonetta C. Houweling
, L. M. Gijezen
, M. A. Jonker
, M. B. A. van Doorn
, Rogier A. Oldenburg
, K. Y. van Spaendonck-Zwarts
, E. M. Leter
, Theo A. Mvan Os
, Nicole C T van Grieken
, E. H. Jaspars
, M. M. de Jong
, Ernie M. H. F. Bongers
, Paul C. Johannesma
, Pieter E. Postmus
, R. Jeroen A. van Moorselaar
, J-H T. M. van Waesberghe
, Theo M. Starink
, M. A. M. van Steensel
, Johan J. P. Gille
, Fred H. Menko^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

BACKGROUND: Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of BHD have not yet been fully clarified. The main focus of this study was to assess the risk of renal cancer, the histological subtypes of renal tumours and the pneumothorax risk in BHD. METHODS: In this study we present the clinical data of 115 FLCN mutation carriers from 35 BHD families. RESULTS: Among 14 FLCN mutation carriers who developed renal cancer 7 were

Original language	English
Pages (from-to)	1912-1919
Number of pages	8
Journal	British Journal of Cancer
Volume	105
Issue number	12
DOIs	https://doi.org/10.1038/bjc.2011.463
Publication status	Published - 6 Dec 2011

Keywords

Birt-Hogg-Dube syndrome
folliculin
fibrofolliculoma
renal cancer
discoid fibroma
pneumothorax

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Houweling, A. C., Gijezen, L. M., Jonker, M. A., van Doorn, M. B. A., Oldenburg, R. A., van Spaendonck-Zwarts, K. Y., Leter, E. M., Os, T. A. M., van Grieken, N. C. T., Jaspars, E. H., de Jong, M. M., Bongers, E. M. H. F., Johannesma, P. C., Postmus, P. E., van Moorselaar, R. J. A., van Waesberghe, J.-H. T. M., Starink, T. M., van Steensel, M. A. M., Gille, J. J. P., & Menko, F. H. (2011). Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. British Journal of Cancer, 105(12), 1912-1919. https://doi.org/10.1038/bjc.2011.463

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title = "Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families",

abstract = "BACKGROUND: Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of BHD have not yet been fully clarified. The main focus of this study was to assess the risk of renal cancer, the histological subtypes of renal tumours and the pneumothorax risk in BHD. METHODS: In this study we present the clinical data of 115 FLCN mutation carriers from 35 BHD families. RESULTS: Among 14 FLCN mutation carriers who developed renal cancer 7 were ",

keywords = "Birt-Hogg-Dube syndrome, folliculin, fibrofolliculoma, renal cancer, discoid fibroma, pneumothorax",

author = "Houweling, \{Antonetta C.\} and Gijezen, \{L. M.\} and Jonker, \{M. A.\} and \{van Doorn\}, \{M. B. A.\} and Oldenburg, \{Rogier A.\} and \{van Spaendonck-Zwarts\}, \{K. Y.\} and Leter, \{E. M.\} and Os, \{Theo A. Mvan\} and \{van Grieken\}, \{Nicole C T\} and Jaspars, \{E. H.\} and \{de Jong\}, \{M. M.\} and Bongers, \{Ernie M. H. F.\} and Johannesma, \{Paul C.\} and Postmus, \{Pieter E.\} and \{van Moorselaar\}, \{R. Jeroen A.\} and \{van Waesberghe\}, \{J-H T. M.\} and Starink, \{Theo M.\} and \{van Steensel\}, \{M. A. M.\} and Gille, \{Johan J. P.\} and Menko, \{Fred H.\}",

year = "2011",

month = dec,

day = "6",

doi = "10.1038/bjc.2011.463",

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volume = "105",

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journal = "British Journal of Cancer",

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Houweling, AC, Gijezen, LM, Jonker, MA, van Doorn, MBA, Oldenburg, RA, van Spaendonck-Zwarts, KY, Leter, EM, Os, TAM, van Grieken, NCT, Jaspars, EH, de Jong, MM, Bongers, EMHF, Johannesma, PC, Postmus, PE, van Moorselaar, RJA, van Waesberghe, J-HTM, Starink, TM, van Steensel, MAM, Gille, JJP & Menko, FH 2011, 'Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families', British Journal of Cancer, vol. 105, no. 12, pp. 1912-1919. https://doi.org/10.1038/bjc.2011.463

TY - JOUR

T1 - Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families

AU - Houweling, Antonetta C.

AU - Gijezen, L. M.

AU - Jonker, M. A.

AU - van Doorn, M. B. A.

AU - Oldenburg, Rogier A.

AU - van Spaendonck-Zwarts, K. Y.

AU - Leter, E. M.

AU - Os, Theo A. Mvan

AU - van Grieken, Nicole C T

AU - Jaspars, E. H.

AU - de Jong, M. M.

AU - Bongers, Ernie M. H. F.

AU - Johannesma, Paul C.

AU - Postmus, Pieter E.

AU - van Moorselaar, R. Jeroen A.

AU - van Waesberghe, J-H T. M.

AU - Starink, Theo M.

AU - van Steensel, M. A. M.

AU - Gille, Johan J. P.

AU - Menko, Fred H.

PY - 2011/12/6

Y1 - 2011/12/6

N2 - BACKGROUND: Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of BHD have not yet been fully clarified. The main focus of this study was to assess the risk of renal cancer, the histological subtypes of renal tumours and the pneumothorax risk in BHD. METHODS: In this study we present the clinical data of 115 FLCN mutation carriers from 35 BHD families. RESULTS: Among 14 FLCN mutation carriers who developed renal cancer 7 were

AB - BACKGROUND: Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of BHD have not yet been fully clarified. The main focus of this study was to assess the risk of renal cancer, the histological subtypes of renal tumours and the pneumothorax risk in BHD. METHODS: In this study we present the clinical data of 115 FLCN mutation carriers from 35 BHD families. RESULTS: Among 14 FLCN mutation carriers who developed renal cancer 7 were

KW - Birt-Hogg-Dube syndrome

KW - folliculin

KW - fibrofolliculoma

KW - renal cancer

KW - discoid fibroma

KW - pneumothorax

U2 - 10.1038/bjc.2011.463

DO - 10.1038/bjc.2011.463

M3 - Article

SN - 0007-0920

VL - 105

SP - 1912

EP - 1919

JO - British Journal of Cancer

JF - British Journal of Cancer

IS - 12

ER -

Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families

Abstract

Keywords

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