Colon polyps and colon cancer

Birt et al., 1977. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol, 113 (12), 1674-7 [PMID: 596896]

Hornstein, 1976. Generalized dermal perifollicular fibromas with polyps of the colon. Hum Genet, 33 (2), 193-7 [PMID: 939573]

Khoo et al., 2002. Clinical and genetic studies of Birt-Hogg-Dubé syndrome. J Med Genet, 39 (12), 906-12 [PMID: 12471204] [BHD Article Library]

Zbar et al., 2002. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev, 11 (4), 393-400 [PMID: 11927500] [BHD Article Library]

Nahorski et al., 2010. Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. J Med Genet, 47 (6), 385-90 [PMID: 20522427]

Parotid tumours

Liu et al., 2000. Parotid oncocytoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol, 43 (6), 1120-2 [PMID: 11100034]

Schmidt et al., 2005. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet, 76 (6), 1023-33 [PMID: 15852235] [BHD Article Library]

Palmirotta et al., 2008. Birt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene. Eur J Dermatol, 18 (4), 382-6 [PMID: 18573707] [BHD Article Library]

Maffé et al., 2011. Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations. Clin Genet, 79 (4), 345-54 [PMID: 20618353]

Lindor et al., 2012. Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors. Hered Cancer Clin Pract, 10 (1), 13 [PMID: 23050938] [BHD Article Library]

Pradella et al., 2013. Where Birt-Hogg-Dubé meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours. Eur J Hum Genet, 21 (10), 1169-72 [PMID: 23386036]

Thyroid nodules and cancer

Kluger et al., 2010. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families. Br J Dermatol, 162 (3), 527-37 [PMID: 19785621]

Benhammou et al., 2011. Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome. Genes Chromosomes Cancer, 50 (6), 466-77 [PMID: 21412933] [BHD Article Library]

Benusiglio et al., 20014. Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study. Orphanet Journal of Rare Diseases, 9 (1) [DOI: 10.1186/s13023-014-0163-z] [BHD Article Library]

Wagle et al., 2014. Response and acquired resistance to everolimus in anaplastic thyroid cancer. The New England journal of medicine, 371 (15), 1426-33 [PMID: 25295501]


Medscape website:


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