Sources

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