BHD Research Blog

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265 posts · 172,538 views

BHD Research Blog is the official blog of, the primary online resource for anyone interested in Birt-Hogg-Dubé Syndrome, a rare genetic condition linked to benign skin growths, collapsed lung and kidney cancers. In the BHD Research Blog, we focus on analysing current research in BHD and related fields, as well as considering wider issues relating to rare diseases.

Joana Guedes
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  • December 16, 2011
  • 05:29 AM

Estimating the risk of pneumothorax and renal cell carcinoma in BHD patients

by Joana Guedes in BHD Research Blog

Many studies into BHD syndrome have investigated the prevalence of pneumothorax and renal cell carcinoma amongst FLCN mutation carriers. Previous estimations of the RCC risk have varied from 6.5% to 34% (Toro et al., 2008), and for pneumothorax, from 24% … Continue reading →... Read more »

Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J.... (2005) Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. American journal of human genetics, 76(6), 1023-33. PMID: 15852235  

Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei MH, Schmidt LS, Davis L, Zbar B.... (2007) Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. American journal of respiratory and critical care medicine, 175(10), 1044-53. PMID: 17322109  

Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, Leter EM, van Os TA, van Grieken NC, Jaspars EH.... (2011) Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. British journal of cancer, 105(12), 1912-9. PMID: 22146830  

Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Linehan WM, & Merino MJ. (2002) Renal tumors in the Birt-Hogg-Dubé syndrome. The American journal of surgical pathology, 26(12), 1542-52. PMID: 12459621  

Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER.... (2009) Birt-Hogg-Dubé syndrome: diagnosis and management. The lancet oncology, 10(12), 1199-206. PMID: 19959076  

  • March 7, 2014
  • 10:00 AM

Cowden Syndrome shares clinical, genetic and biological features with several kidney cancer susceptibility syndromes

by Joana Guedes in BHD Research Blog

Cowden Syndrome is one of several PTEN Hamartoma Tumor Syndromes caused by heterozygous germline mutations in the PTEN gene. Symptoms include learning disability, macrocephaly, skin papules on the face and mucous membranes, intestinal and colonic polyps, uterine fibroids, lipomas, and … Continue reading →... Read more »

Shuch B, Ricketts CJ, Vocke CD, Komiya T, Middelton LA, Kauffman EC, Merino MJ, Metwalli AR, Dennis P, & Linehan WM. (2013) Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer. The Journal of urology, 190(6), 1990-8. PMID: 23764071  

  • August 12, 2011
  • 05:24 AM

Lab-profile: Dr Ferenc Müller – University of Birmingham, UK

by Joana Guedes in BHD Research Blog

As mentioned in last week’s blog post, many more videos have been uploaded on to, and this week we would like to highlight our interview with Dr Ferenc Müller, a senior lecturer in Genetics at the University of Birmingham … Continue reading →... Read more »

Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA.... (2011) Loss-of-function mutations in RAB18 cause Warburg micro syndrome. American journal of human genetics, 88(4), 499-507. PMID: 21473985  

Gehrig J, Reischl M, Kalmár E, Ferg M, Hadzhiev Y, Zaucker A, Song C, Schindler S, Liebel U, & Müller F. (2009) Automated high-throughput mapping of promoter-enhancer interactions in zebrafish embryos. Nature methods, 6(12), 911-6. PMID: 19898487  

Southgate L, Dafou D, Hoyle J, Li N, Kinning E, Critchley P, Németh AH, Talbot K, Bindu PS, Sinha S.... (2010) Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish. Neurogenetics, 11(4), 379-89. PMID: 20390432  

van der Velden YU, Wang L, Zevenhoven J, van Rooijen E, van Lohuizen M, Giles RH, Clevers H, & Haramis AP. (2011) The serine-threonine kinase LKB1 is essential for survival under energetic stress in zebrafish. Proceedings of the National Academy of Sciences of the United States of America, 108(11), 4358-63. PMID: 21368212  

  • August 19, 2011
  • 05:23 AM

Familial multiple discoid fibromas

by Joana Guedes in BHD Research Blog

In 1985, Starink et al. described patients with hereditary multiple trichodiscomas, a skin condition which was proposed to be distinct from Birt-Hogg-Dubé syndrome. However, trichodiscomas are firm, skin-coloured flat or dome-shaped papules, and their similarity to fibrofolliculomas has meant that … Continue reading →... Read more »

Starink TM, Houweling AC, van Doorn MB, Leter EM, Jaspars EH, van Moorselaar RJ, Postmus PE, Johannesma PC, van Waesberghe JH, Ploeger MH.... (2011) Familial multiple discoid fibromas: A look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus. Journal of the American Academy of Dermatology. PMID: 21794948  

Starink TM, Kisch LS, & Meijer CJ. (1985) Familial multiple trichodiscomas. A clinicopathologic study. Archives of dermatology, 121(7), 888-91. PMID: 4015134  

  • March 25, 2011
  • 06:44 AM

Identifying FLCN mutations

by Joana Guedes in BHD Research Blog

BHD syndrome is caused by small nucleotide alterations in the FLCN gene. A total of 132 different mutations have been identified, which are described in the Folliculin Sequence Variation Database. In a large study of 102 BHD syndrome families, only … Continue reading →... Read more »

Benhammou, J., Vocke, C., Santani, A., Schmidt, L., Baba, M., Seyama, K., Wu, X., Korolevich, S., Nathanson, K., Stolle, C.... (2011) Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome. Genes, Chromosomes and Cancer. DOI: 10.1002/gcc.20872  

  • April 8, 2011
  • 07:29 AM

The genetics of renal cell carcinoma

by Joana Guedes in BHD Research Blog

As mentioned in the blog last week, high-throughput DNA sequencing is helping to identify novel mutations related to a number of different genetic disorders. A recent example of this can be seen in a study by Varela et al. (2011), … Continue reading →... Read more »

Kenneth, N., Mudie, S., van Uden, P., & Rocha, S. (2008) SWI/SNF Regulates the Cellular Response to Hypoxia. Journal of Biological Chemistry, 284(7), 4123-4131. DOI: 10.1074/jbc.M808491200  

Reisman, D., Glaros, S., & Thompson, E. (2009) The SWI/SNF complex and cancer. Oncogene, 28(14), 1653-1668. DOI: 10.1038/onc.2009.4  

Varela, I., Tarpey, P., Raine, K., Huang, D., Ong, C., Stephens, P., Davies, H., Jones, D., Lin, M., Teague, J.... (2011) Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature, 469(7331), 539-542. DOI: 10.1038/nature09639  

Xia, W., Nagase, S., Montia, A., Kalachikov, S., Keniry, M., Su, T., Memeo, L., Hibshoosh, H., & Parsons, R. (2008) BAF180 Is a Critical Regulator of p21 Induction and a Tumor Suppressor Mutated in Breast Cancer. Cancer Research, 68(6), 1667-1674. DOI: 10.1158/0008-5472.CAN-07-5276  

  • April 4, 2014
  • 04:00 AM

Why are patient registries important?

by Joana Guedes in BHD Research Blog

How many people have BHD? Who will develop which symptoms, when?  How severe will they be? These are very straightforward questions, but there is not sufficient information to accurately answer them at the moment. This is where patient registries are … Continue reading →... Read more »

  • July 29, 2011
  • 07:13 AM

Characterisation of pulmonary cysts in BHD syndrome

by Joana Guedes in BHD Research Blog

A recent paper by Tobino et al. (2011) investigated the differentiation between two cystic lung diseases: BHD syndrome and lymphangioleiomyomatosis (LAM). LAM is a rare lung disease, mainly affecting women, in which multiple cysts develop in the lungs, often leading … Continue reading →... Read more »

  • September 16, 2011
  • 11:03 AM

Tuberous sclerosis complex and autophagy

by Joana Guedes in BHD Research Blog

Tuberous sclerosis complex (TSC) is a multi-system disorder caused by mutations in the TSC1 or TSC2 genes. As illustrated in the signalling diagram on, TSC1/2 plays an important role in regulating the mammalian target of rapamycin complex 1 (mTORC1), which is involved … Continue reading →... Read more »

Mathew R, Karp CM, Beaudoin B, Vuong N, Chen G, Chen HY, Bray K, Reddy A, Bhanot G, Gelinas C.... (2009) Autophagy suppresses tumorigenesis through elimination of p62. Cell, 137(6), 1062-75. PMID: 19524509  

Parkhitko A, Myachina F, Morrison TA, Hindi KM, Auricchio N, Karbowniczek M, Wu JJ, Finkel T, Kwiatkowski DJ, Yu JJ.... (2011) Tumorigenesis in tuberous sclerosis complex is autophagy and p62/sequestosome 1 (SQSTM1)-dependent. Proceedings of the National Academy of Sciences of the United States of America, 108(30), 12455-60. PMID: 21746920  

  • April 15, 2011
  • 06:17 AM

A role for chromatin modifications and DNA repair in renal cell carcinoma

by Joana Guedes in BHD Research Blog

Following on from the blog last week, which described the identification of PBRM1 mutations in clear-cell RCC (ccRCC), other sequencing studies are also finding new genes that are mutated in ccRCC. For example, Dalgliesh et al. (2010) have identified mutations … Continue reading →... Read more »

Dalgliesh, G., Furge, K., Greenman, C., Chen, L., Bignell, G., Butler, A., Davies, H., Edkins, S., Hardy, C., Latimer, C.... (2010) Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature, 463(7279), 360-363. DOI: 10.1038/nature08672  

Komori, K., Takagi, Y., Sanada, M., Lim, T., Nakatsu, Y., Tsuzuki, T., Sekiguchi, M., & Hidaka, M. (2009) A novel protein, MAPO1, that functions in apoptosis triggered by O6-methylguanine mispair in DNA. Oncogene, 28(8), 1142-1150. DOI: 10.1038/onc.2008.462  

van Haaften, G., Dalgliesh, G., Davies, H., Chen, L., Bignell, G., Greenman, C., Edkins, S., Hardy, C., O'Meara, S., Teague, J.... (2009) Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. Nature Genetics, 41(5), 521-523. DOI: 10.1038/ng.349  

  • July 3, 2015
  • 07:06 AM

A new tissue-specific FLCN-deficient mouse model of renal tumourigenesis

by Joana Guedes in BHD Research Blog

Animal models can be useful for understanding disease pathology and as preclinical models for drug testing. As BHD patients develop renal cell carcinomas (RCCs) of varied histologies, associated with a loss of FLCN, BHD animal models could be used to study of a wide range of renal cancer subtypes. Current BHD mouse models include kidney-specific Flcn-knockouts (Chen et al., 2008, Baba et al., 2008) and ubiquitous knockouts (Hasumi et al., 2009, Hartman et al., 2009, Hudon et al., 2010). The form........ Read more »

Chen J, Huang D, Rubera I, Futami K, Wang P, Zickert P, Khoo SK, Dykema K, Zhao P, Petillo D.... (2015) Disruption of tubular Flcn expression as a mouse model for renal tumor induction. Kidney international. PMID: 26083655  

  • February 3, 2012
  • 11:17 AM

Gene therapy in VHL-null cells using human artificial chromosomes

by Joana Guedes in BHD Research Blog

Last month, our conference summary highlighted some of the work that is taking place in the field of gene therapy. Currently, many advanced gene therapy systems are derived from viruses, such as the adenovirus and lentivirus. However, these viral vectors … Continue reading →... Read more »

Kim JH, Kononenko A, Erliandri I, Kim TA, Nakano M, Iida Y, Barrett JC, Oshimura M, Masumoto H, Earnshaw WC.... (2011) Human artificial chromosome (HAC) vector with a conditional centromere for correction of genetic deficiencies in human cells. Proceedings of the National Academy of Sciences of the United States of America, 108(50), 20048-53. PMID: 22123967  

  • August 26, 2011
  • 05:00 AM

Selectively targeting renal cell carcinoma by synthetic lethality

by Joana Guedes in BHD Research Blog

A major challenge in developing effective cancer therapies is targeting the tumour cells without harming the surrounding healthy tissue. A technique often used to identify such drugs is synthetic lethality. The basis of this technique is that the inhibition of … Continue reading →... Read more »

  • July 22, 2011
  • 06:17 AM

VHL, HIF and epigenetic modifications in clear cell renal cancer

by Joana Guedes in BHD Research Blog

In an earlier blog post, Vicki discussed a paper by Dalgliesh et al. (2010), which describes the identification of mutations in a variety of histone modifying genes in clear cell renal cell carcinoma (ccRCC). One of the genes identified codes for a … Continue reading →... Read more »

  • July 15, 2011
  • 11:56 AM

Stay connected

by Joana Guedes in BHD Research Blog

As the BHD community is spread all over the globe, strengthening connections and developing more ways of meeting others is important. At the Third BHD Symposium, people at the Patient and Families session proposed the idea of privately messaging … Continue reading →... Read more »

  • April 6, 2012
  • 05:00 AM

Characterisation of the RCC susceptibility locus on chromosome 11

by Joana Guedes in BHD Research Blog

A blog post from January last year described a paper by Purdue et al. (2011) in which a genome-wide association study (GWAS) identified two renal cell carcinoma (RCC) susceptibility loci within HIF2α (on chromosome 2) and an uncharacterised intergenic region (on … Continue reading →... Read more »

  • September 2, 2011
  • 05:27 AM

Synthetic lethality as a treatment for HLRCC

by Joana Guedes in BHD Research Blog

In the blog last week, I introduced synthetic lethality as a potential strategy for cancer therapy which targets tumour cells whilst having no effect on healthy tissue. Another synthetic lethality paper has recently been published in Nature, this time targeting … Continue reading →... Read more »

Frezza C, Zheng L, Folger O, Rajagopalan KN, Mackenzie ED, Jerby L, Micaroni M, Chaneton B, Adam J, Hedley A.... (2011) Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase. Nature. PMID: 21849978  

  • September 9, 2011
  • 05:00 AM

Lab-profile: Dr Ravi Nookala – University of Cambridge, UK

by Joana Guedes in BHD Research Blog

In this month’s lab profile we highlight the work of Dr Ravi Nookala, a structural biologist working in the lab of Professor Sir Tom Blundell in the Department of Biochemistry at the University of Cambridge. Dr Nookala is working on … Continue reading →... Read more »

Nookala RK, Hussain S, & Pellegrini L. (2007) Insights into Fanconi Anaemia from the structure of human FANCE. Nucleic acids research, 35(5), 1638-48. PMID: 17308347  

  • November 30, -1
  • 12:00 AM

Recent reports on BHD and skin symptoms – misdiagnosis and new manifestations

by Joana Guedes in BHD Research Blog

Patients with Birt-Hogg-Dubé (BHD) syndrome usually develop benign hair follicle tumours (BHFTs) which appear as multiple whitish papules developing primarily on the face, neck and torso (Menko et al., 2009). BHFTs such as fibrofolliculomas and trichodiscomas (skin-coloured tumours occurring on the upper body) can be associated with various genetic conditions and their histology is often key to differential diagnosis. The morphology and histology of various BHFTs is discussed in a recent ........ Read more »

Del Rosso JQ, Silverberg N, & Zeichner JA. (2016) When Acne is Not Acne. Dermatologic clinics, 34(2), 225-8. PMID: 27015783  

  • May 18, 2012
  • 05:00 AM

mTOR signalling and BHD-associated lung and kidney lesions

by Joana Guedes in BHD Research Blog

Pulmonary cysts and pneumothorax are key indicators of BHD syndrome. However, very little is known about the pathophysiology of these lung cysts. A recent Japanese study of 9 families has now shown that not only are BHD cysts different from … Continue reading →... Read more »

Furuya M, Tanaka R, Koga S, Yatabe Y, Gotoda H, Takagi S, Hsu YH, Fujii T, Okada A, Kuroda N.... (2012) Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families. The American journal of surgical pathology, 36(4), 589-600. PMID: 22441547  

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