Nickerson et al., 2002. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer cell, 2 (2), 157-64 [PMID: 12204536] [BHD Article Library]
Menko et al., 2013. A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation. Fam Cancer, 12 (3), 373-9 [PMID: 23264078]
Do I Have BHD?
Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]
The genetics of BHD
Nickerson et al., 2002. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer cell, 2 (2), 157-64 [PMID: 12204536] [BHD Article Library]
Menko et al., 2013. A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation. Fam Cancer, 12 (3), 373-9 [PMID: 23264078]
Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]
Stamatakis et al., 2013. Diagnosis and management of BHD-associated kidney cancer. Familial cancer, 12 (3), 397-402 [PMID: 23703644]
Bessis et al., 2006. A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome. Br J Dermatol, 155 (5), 1067-9 [PMID: 17034545]
Gunji et al., 2007. Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet, 44 (9), 588-93 [PMID: 17496196] [BHD Article Library]
Johannesma et al., 2014. Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients. BMC pediatrics, 14 [PMID: 24994497] [BHD Article Library]
Links:
FLCN mutation database: https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=FLCN
Who should be tested for BHD
Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]
Why should I be tested for BHD
Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]
Stamatakis et al., 2013. Diagnosis and management of BHD-associated kidney cancer. Familial cancer, 12 (3), 397-402 [PMID: 23703644]
Gupta et al., 2013. Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Familial cancer, 12 (3), 387-96 [PMID: 23715758]
Genetic testing
Links:
About Genetic testing and Counselling (NHS website): http://www.nhs.uk/Conditions/Genetics/Pages/genetic-testing-and-counselling.aspx
About genetic counselling: NHS leaflet: http://www.nhs.uk/Conditions/Genetics/Documents/What%20happens%20in%20a%20Genetics%20Laboratory.pdf
Genetic testing – getting the results
Toro et al., 2008. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet, 45 (6), 321-31 [PMID: 18234728] [BHD Article Library]
Links:
About Genetic testing and Counselling (NHS website): http://www.nhs.uk/Conditions/Genetics/Pages/genetic-testing-and-counselling.aspx
You have BHD, what now?
Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]
Stamatakis et al., 2013. Diagnosis and management of BHD-associated kidney cancer. Familial cancer, 12 (3), 397-402 [PMID: 23703644]
Finding a doctor
Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]
Publication date: December 2014
Review date: December 2017