Danielle Stevenson

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BHD Research Blog
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  • April 17, 2015
  • 04:38 AM
  • 97 views

Rhabdomyomas: an additional BHD hamartoma phenotype?

by Danielle Stevenson in BHD Research Blog

Hamartomas are benign, focal malformations formed by an excess of normal tissue growing in a disorganised fashion. Several hamartoma syndromes have been linked to aberrant mTOR signalling including BHD and Tuberous Sclerosis Complex (TSC). In addition to the predisposition of BHD patients to develop hair follicle hamartomas or fibrofolliculomas (Birt et al., 1977), Fuyura et al., (2012) propose that the pulmonary cysts in BHD patients are hamartoma-like cystic alveolar formations. The benign nature of these BHD growth phenotypes, in comparison to the potentially malignant growth of BHD renal cell carcinomas, shows that folliculin (FLCN) haploinsufficiency gives a less severe pathology than FLCN loss-of-function.

A recently published study from Bondavalli et al., (2015) was the first report of a cardiac rhabdomyoma (hamartoma) in an infant carrying a FLCN mutation. Cardiac rhabdoyomas are the most common cardiac tumour in children and can be sporadic or syndromic. Syndromic cardiac rhabdomyomas are associated with TSC and mutations in the TSC1 and TSC2 genes, however no such mutations were found in the infant.... Read more »

Bondavalli D, White SM, Steer A, Pflaumer A, & Winship I. (2015) Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?. American journal of medical genetics. Part A, 167(4), 802-4. PMID: 25655561  

  • April 10, 2015
  • 09:00 AM
  • 100 views

Intragenic deletions in folliculin identified and mapped

by Danielle Stevenson in BHD Research Blog

The phenotypes associated with BHD – fibrofolliculomas, pulmonary cysts with an increased risk of pneumothorax, and an increased risk of renal cell carcinoma (RCC) – show variable penetrance between and within families, making diagnosis difficult when only one symptom is present. Studies have found that up to 10% of patient cohorts diagnosed with Primary Spontaneous Pneumothorax (PSP) have folliculin (FLCN) mutations (Ren et al., 2008, Johannesma et al., 2015).

Patients suspected of having BHD undergo genetic testing via DNA sequencing to detect FLCN mutations. However, for a minority patients with clinical BHD no mutation can be detected using these techniques. Large intragenic deletions and duplications have been identified in such patients (Kunogi et al., 2010, Sempau et al., 2010, Benhammou et al., 2011). New work from Ding et al., (2015) has identified and mapped three large intragenic deletions in the FLCN genes of 40 patients from nine Chinese families with a family history of PSP and lung cysts.
Ding et al., (2015) analysed 12 families in total including five families identified in Ren et al., (2008) that were found not to have small mutations detectable by DNA sequencing. The families showed reduced fibrofolliculoma penetrance and no RCC. The families were identified through a proband admitted after a spontaneous pneumothorax, so this selection bias might make the reduction in fibrofolliculomas and RCC less significant. Larger comparative studies are required to determine if there are significant difference in phenotype penetrance in different ethnic groups.‎

Ding et al., used Multiplex Ligation-Dependent Probe Amplification (MLPA) and breakpoint analysis to identify a large deletion across exons 9-14 (c.872-492_1740 1763del) in five families, a deletion across exon 14 (c.1539-536_1740 1701del) in two families and a large deletion across exons 1-3 (c.-504-1303_-25 845del) in two families. The FLCN start codon is in exon 4 therefore deletion of exons 1-3 would disrupt the promotor reducing expression (Benhammou et al., 2011). The other deletions would prematurely truncate FLCN and as several identified functions rely on the C-terminal (Baba et al., 2006) these mutations would be pathogenic.

A 5.5Mb disease haplotype was identified around the exon 9-14 deletion suggesting a founder mutation. In addition all five families shared a point mutation in exon 5. This deletion was estimated to have occurred approximately 16 generations ago. Haplotypes around the exon 14 and exon 1-3 deletions were also found, however estimating the age was not possible from two families.

To date one large intragenic duplication and 11 large intragenic deletions (Figure 1) have been identified in 20 BHD families and 2 sporadic patients. Two of the deletions identified by Ding et al., have previously been reported (Kunogi et al., 2010) but not mapped in detail. The three deletions mapped in this work and several of the other deletions have AluI repeat sequences (black arrows in Figure 1) on either side. Interestingly the FLCN gene has a high density of AluI repeats compared to the genome in general and this increases the risk of homologous recombination resulting in deletions and duplications.

This work supports the conclusion that a percentage of PSP patients are actually undiagnosed BHD patients, and that the 10% previously suggested could be an underestimation if only DNA sequencing is used to detect FLCN mutations. MLPA analysis would therefore be an important and useful additional DNA testing tool for detecting mutations in suspected BHD patients.... Read more »

Ding Y, Zhu C, Zou W, Ma D, Min H, Chen B, Ye M, Pan Y, Cao L, Wan Y.... (2015) FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax. American journal of medical genetics. Part A. PMID: 25807935  

  • April 10, 2015
  • 09:00 AM
  • 107 views

Intragenic deletions in folliculin identified and mapped

by Danielle Stevenson in BHD Research Blog

The phenotypes associated with BHD – fibrofolliculomas, pulmonary cysts with an increased risk of pneumothorax, and an increased risk of renal cell carcinoma (RCC) – show variable penetrance between and within families, making diagnosis difficult when only one symptom is present. Studies have found that up to 10% of patient cohorts diagnosed with Primary Spontaneous Pneumothorax (PSP) have folliculin (FLCN) mutations (Ren et al., 2008, Johannesma et al., 2015).

Patients suspected of having BHD undergo genetic testing via DNA sequencing to detect FLCN mutations. However, for a minority patients with clinical BHD no mutation can be detected using these techniques. Large intragenic deletions and duplications have been identified in such patients (Kunogi et al., 2010, Sempau et al., 2010, Benhammou et al., 2011). New work from Ding et al., (2015) has identified and mapped three large intragenic deletions in the FLCN genes of 40 patients from nine Chinese families with a family history of PSP and lung cysts.... Read more »

Ding Y, Zhu C, Zou W, Ma D, Min H, Chen B, Ye M, Pan Y, Cao L, Wan Y.... (2015) FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax. American journal of medical genetics. Part A. PMID: 25807935  

  • March 27, 2015
  • 09:00 AM
  • 47 views

Fnip1 and Fnip2 play critical roles in kidney tumour suppression in cooperation with Flcn in mice

by Danielle Stevenson in BHD Research Blog

Folliculin (FLCN), through its association with renal tumours in BHD and knockout mouse models, is now recognised as a tumour suppressor. The loss of Flcn in kidney cells is linked to pro-tumourigenic changes in AMPK and mTOR activity, increased expression of PPARGC1A (PGC1α) and increased mitochondrial biogenesis (Baba et al., 2008, Hasumi et al., 2012). Two folliculin interacting proteins, FNIP1 and FNIP2, are known to facilitate FLCN function. A report from Hasumi et al., 2015 aimed to clarify the function of Fnip1 and Fnip2 and identifies them as having a critical role in kidney tumour suppression.... Read more »

Hasumi H, Baba M, Hasumi Y, Lang M, Huang Y, Oh HF, Matsuo M, Merino MJ, Yao M, Ito Y.... (2015) Folliculin-interacting proteins Fnip1 and Fnip2 play critical roles in kidney tumor suppression in cooperation with Flcn. Proceedings of the National Academy of Sciences of the United States of America. PMID: 25775561  

  • March 13, 2015
  • 09:00 AM
  • 51 views

Differential effects of HIF-α isoforms on apoptosis in renal carcinoma cell lines

by Danielle Stevenson in BHD Research Blog

Under hypoxic conditions the activation of HIF transcription factors enables cells to alter their metabolism and avoid stress-induced apoptosis. Aberrant HIF activity in the inherited renal cancers BHD, VHL, HLRCC and TSC, is linked to the expression of growth and pro-angiogenic factors that are important in tumour growth. A new report from Doonachar et al., (2015) focuses on the differential effects of the HIF-1α and HIF-2α isoforms on stress-induced apoptosis in two VHL-deficient renal cell carcinoma (RCC) cell lines.... Read more »

Doonachar A, Gallo MD, Doukas D, Pasricha R, Lantsberg I, & Schoenfeld AR. (2015) Differential effects of HIF-α isoforms on apoptosis in renal carcinoma cell lines. Cancer cell international, 23. PMID: 25729330  

  • March 12, 2015
  • 11:31 AM
  • 124 views

Distinctive expression patterns of FLCN and GPNMB in BHD renal tumours

by Danielle Stevenson in BHD Research Blog

As discussed on this blog previously, developing histological screening techniques for renal cell carcinomas (RCCs) associated with BHD is important for early diagnosis. Individuals with folliculin (FLCN) mutations are more likely to develop multiple bilateral renal tumours (Zbar et al., 2002, Pavlovich et al., 2002). A misdiagnosis of sporadic RCC may compromise future treatment and wellbeing of the patient and other affected family members. Currently there are no known histological markers to distinguish between all subtypes of sporadic and FLCN-associated tumours.... Read more »

  • February 13, 2015
  • 09:00 AM
  • 46 views

Characterisation of renal tumours in patients with Birt-Hogg-Dubé Syndrome

by Danielle Stevenson in BHD Research Blog

Due to mutations in their folliculin (FLCN) gene Birt-Hogg-Dubé (BHD) syndrome patients have a greater risk of developing renal cell carcinomas (RCC) than others (Zbar et al., 2002, Houweling et al., 2011). Unlike sporadic cases of RCC, where the majority are classified as clear cell RCC (ccRCC), studies of FLCN-related tumours have found that the majority are either chromophobe RCCs (34%) or hybrid oncocytoma/chromophobe tumours (HOCTs, 50%) with fewer cases of ccRCC (9%) and only rare occurrences of renal oncocytomas or papillary RCCs (Pavlovich et al., 2002). It is also common for multiple tumours of different subtypes to develop on the same kidney. Using current histology methods diagnosing a tumour as being related to BHD rather than sporadic can be difficult, especially in undiagnosed BHD cases where the genetic background will be unknown.... Read more »

Iribe Y, Kuroda N, Nagashima Y, Yao M, Tanaka R, Gotoda H, Kawakami F, Imamura Y, Nakamura Y, Ando M.... (2015) Immunohistochemical characterization of renal tumors in patients with Birt-Hogg-Dubé Syndrome. Pathology international. PMID: 25597876  

  • January 30, 2015
  • 09:00 AM
  • 36 views

The development of targeted therapy for renal cell carcinoma

by Danielle Stevenson in BHD Research Blog

Over 85% of kidney and renal pelvis cancers are renal cell carcinomas (RCC); a disease with multiple subtypes including clear cell, papillary, chromophobe and oncocytomic. The variable nature of RCC makes one blanket treatment impossible, and therefore targeted therapies may be more effective at enhancing survival. A recent review from Randall et al., (2014) summarises the current knowledge on RCC genetic aberrations and their effects, as well as discussing current and future treatment options.... Read more »

  • January 23, 2015
  • 09:00 AM
  • 131 views

Fnip1 regulates skeletal muscle fibre type specification, fatigue resistance, and susceptibility to muscular dystrophy

by Danielle Stevenson in BHD Research Blog

Summary of recent paper into the role of Fnip1 in skeletal muscle development.... Read more »

Reyes NL, Banks GB, Tsang M, Margineantu D, Gu H, Djukovic D, Chan J, Torres M, Liggitt HD, Hirenallur-S DK.... (2015) Fnip1 regulates skeletal muscle fiber type specification, fatigue resistance, and susceptibility to muscular dystrophy. Proceedings of the National Academy of Sciences of the United States of America, 112(2), 424-9. PMID: 25548157  

  • January 23, 2015
  • 03:00 AM
  • 140 views

Fnip1 regulates skeletal muscle fibre type specification, fatigue resistance, and susceptibility to muscular dystrophy

by Danielle Stevenson in BHD Research Blog

Folliculin (FLCN) and the associated folliculin-interacting proteins FNIP1 and FNIP2 have been shown to play a role in cell metabolism through regulation of the AMPK-mTOR pathways. Previously Hasumi et al. (2012) reported that selective deletion of Flcn in mouse skeletal … Continue reading →... Read more »

Reyes NL, Banks GB, Tsang M, Margineantu D, Gu H, Djukovic D, Chan J, Torres M, Liggitt HD, Hirenallur-S DK.... (2015) Fnip1 regulates skeletal muscle fiber type specification, fatigue resistance, and susceptibility to muscular dystrophy. Proceedings of the National Academy of Sciences of the United States of America, 112(2), 424-9. PMID: 25548157  

  • December 26, 2014
  • 04:00 AM
  • 55 views

BHD Research Blog: 2014 Annual Review

by Danielle Stevenson in BHD Research Blog

With the New Year upon us, we thought we would use this week’s blog to review the studies we’ve particularly enjoyed writing about, and to revisit emerging themes. During the summer-autumn period, there were a number of interesting studies that … Continue reading →... Read more »

Dunlop EA, Seifan S, Claessens T, Behrends C, Kamps MA, Rozycka E, Kemp AJ, Nookala RK, Blenis J, Coull BJ.... (2014) FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation. Autophagy, 10(10). PMID: 25126726  

Goncharova EA, Goncharov DA, James ML, Atochina-Vasserman EN, Stepanova V, Hong SB, Li H, Gonzales L, Baba M, Linehan WM.... (2014) Folliculin Controls Lung Alveolar Enlargement and Epithelial Cell Survival through E-Cadherin, LKB1, and AMPK. Cell reports, 7(2), 412-23. PMID: 24726356  

Hasumi Y, Baba M, Hasumi H, Huang Y, Lang M, Reindorf R, Oh HB, Sciarretta S, Nagashima K, Haines DC.... (2014) Folliculin (Flcn) inactivation leads to murine cardiac hypertrophy through mTORC1 deregulation. Human molecular genetics. PMID: 24908670  

Johannesma PC, van den Borne BE, Gille JJ, Nagelkerke AF, van Waesberghe JT, Paul MA, van Moorselaar RJ, Menko FH, & Postmus PE. (2014) Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients. BMC pediatrics, 171. PMID: 24994497  

Johannesma PC, Houweling AC, van Waesberghe JH, van Moorselaar RJ, Starink TM, Menko FH, & Postmus PE. (2014) The pathogenesis of pneumothorax in Birt-Hogg-Dubé syndrome: A hypothesis. Respirology (Carlton, Vic.), 19(8), 1248-50. PMID: 25302759  

Khabibullin D, Medvetz DA, Pinilla M, Hariharan V, Li C, Hergrueter A, Laucho Contreras M, Zhang E, Parkhitko A, Yu JJ.... (2014) Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells. Physiological reports, 2(8). PMID: 25121506  

Park H, Tsang M, Iritani BM, & Bevan MJ. (2014) Metabolic regulator Fnip1 is crucial for iNKT lymphocyte development. Proceedings of the National Academy of Sciences of the United States of America, 111(19), 7066-71. PMID: 24785297  

Possik E, Jalali Z, Nouët Y, Yan M, Gingras MC, Schmeisser K, Panaite L, Dupuy F, Kharitidi D, Chotard L.... (2014) Folliculin regulates ampk-dependent autophagy and metabolic stress survival. PLoS genetics, 10(4). PMID: 24763318  

Postmus PE, Johannesma PC, Menko FH, & Paul MA. (2014) In-Flight Pneumothorax: Diagnosis May Be Missed because of Symptom Delay. American journal of respiratory and critical care medicine, 190(6), 704-5. PMID: 25221882  

Shuch B, Vourganti S, Ricketts CJ, Middleton L, Peterson J, Merino MJ, Metwalli AR, Srinivasan R, & Linehan WM. (2014) Defining early-onset kidney cancer: implications for germline and somatic mutation testing and clinical management. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 32(5), 431-7. PMID: 24378414  

Wagle N, Grabiner BC, Van Allen EM, Amin-Mansour A, Taylor-Weiner A, Rosenberg M, Gray N, Barletta JA, Guo Y, Swanson SJ.... (2014) Response and acquired resistance to everolimus in anaplastic thyroid cancer. The New England journal of medicine, 371(15), 1426-33. PMID: 25295501  

Yan M, Gingras MC, Dunlop EA, Nouët Y, Dupuy F, Jalali Z, Possik E, Coull BJ, Kharitidi D, Dydensborg AB.... (2014) The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation. The Journal of clinical investigation. PMID: 24762438  

  • December 19, 2014
  • 04:00 AM
  • 50 views

A shower of second hit mutations causes bilateral, multifocal kidney cancer in TSC patients

by Danielle Stevenson in BHD Research Blog

Tuberous sclerosis complex (TSC) is caused by autosomal dominant inactivating mutations in either the TSC1 or TSC2 genes, and patients are predisposed to developing tumours in the brain, eyes, heart, skin, lungs and kidneys throughout their lifetime. While more than … Continue reading →... Read more »

Tyburczy ME, Jozwiak S, Malinowska IA, Chekaluk Y, Pugh TJ, Wu CL, Nussbaum RL, Seepo S, Dzik T, Kotulska K.... (2014) A shower of second hit events as the cause of multifocal renal cell carcinoma in Tuberous Sclerosis Complex. Human molecular genetics. PMID: 25432535  

  • December 12, 2014
  • 12:00 PM
  • 56 views

Providing written information significantly improves parents’ understanding of TSC

by Danielle Stevenson in BHD Research Blog

Last week, we launched the new patient information pages on the BHD Foundation website. The information has been rewritten with the principles of health literacy in mind, and we hope these will be of greater use to patients and their families. This week’s blog discusses a study which demonstrates the value of providing well-written patient information.

Tuberous Sclerosis Complex (TSC) is a paediatric genetic syndrome which causes tumours to form in the brain, eyes, heart, skin, lungs and kidneys. There is no cure for TSC, but correct management of the individual symptoms can greatly improve health outcomes. Thus, educating care givers – usually the child’s parents – can improve patients’ quality of life.

Samia et al. (2014) tested whether providing parents with written information in addition to the information given in person at the TSC clinic in Cape Town, South Africa, improved parents’ understanding of TSC. 21 parents took part in the study, their baseline understanding of TSC was determined, and parents were split into two groups at random. The first group received a written leaflet about TSC to take home after their child’s appointment, while the second group did not. Parents’ knowledge of TSC was assessed 3 months later at their child’s next clinic appointment. Leaflets were based on information available on the TS Alliance website, and translated into both Xhosa and Afrikaans.

The study found that parents’ understanding of TSC increased by 20% in the group who received the written leaflet, compared with only 3% in the group who did not. The difference in knowledge was particularly striking in those parents who had completed between 8 and 11 years of education. The level of knowledge improved less in those parents who had over 11 years of education, suggesting that their baseline level of understanding was already high.

However, the study also found that written information was not useful to those parents who had not completed at least 8 years of education, and should be supplemented with verbal counseling. These appointments should be in a more relaxed setting, as previous studies have shown that in the formal setting of a doctor’s appointment, patient retention of information is low.

In this study, the majority of caregivers who took part in the study were female (18/21), and for most the clinic was their primary source of information about TSC. However, there are countries where women do not receive the same level of education as men, but are still likely to be the main caregiver of a disabled child. In these cases, health information providers will need to predominantly cater for a low literacy audience.

Additionally, in the UK, the internet is the primary source of health information for 87% of people, meaning that information providers should predominantly produce online content, and concentrate less on developing hard copy pamphlets to distribute at clinics. Thus, information providers need to understand their audience and have a flexible approach. This is especially important for those writing rare disease information, where fewer information resources are available and information providers are more likely to be generating information that is used internationally.

The link between improved health literacy and health outcomes is well-documented (Berkman et al., 2011): greater understanding of a disease leads people to seek diagnosis earlier and to greater compliance to treatment regimens. In turn this leads to improved health outcomes and reduced healthcare costs. Therefore, providing patients and caregivers with the right information, at the right time, and in the right format is an issue of public health.



Berkman ND, Sheridan SL, Donahue KE, Halpern DJ, & Crotty K (2011). Low health literacy and health outcomes: an updated systematic review. Ann Intern Med, 155 (2), 97-107. PMID: 21768583
Samia P, Donald KA, Schlegel B, & Wilmshurst JM (2014). Parental Understanding of Tuberous Sclerosis Complex. Journal of child neurology PMID: 25414235... Read more »

Samia P, Donald KA, Schlegel B, & Wilmshurst JM. (2014) Parental Understanding of Tuberous Sclerosis Complex. Journal of child neurology. PMID: 25414235  

  • December 5, 2014
  • 11:37 AM
  • 39 views

Introducing the new BHD patient information pages

by Danielle Stevenson in BHD Research Blog

Like many rare diseases, there is no cure for BHD. However, appropriate management of symptoms – particularly kidney cancer – can vastly reduce the likelihood of early death due to the disease (Menko et al., 2009, Stamatakis et al., 2013). … Continue reading →... Read more »

Gupta N, Seyama K, & McCormack FX. (2013) Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Familial cancer, 12(3), 387-96. PMID: 23715758  

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  

Stamatakis L, Metwalli AR, Middelton LA, & Marston Linehan W. (2013) Diagnosis and management of BHD-associated kidney cancer. Familial cancer, 12(3), 397-402. PMID: 23703644  

  • November 28, 2014
  • 04:56 AM
  • 177 views

The natural history of angiomyolipoma in cases of sporadic LAM

by Danielle Stevenson in BHD Research Blog

Lymphangioleiomyomatosis (LAM) is a cystic lung disease that predominantly affects women. Roughly 90% of cases are sporadic and are caused by somatic mutation of the TSC2 gene, but some patients develop LAM as part of the syndrome Tuberous Sclerosis Complex … Continue reading →... Read more »

  • November 21, 2014
  • 02:00 AM
  • 111 views

Computational approaches may expedite drug repurposing for rare diseases

by Danielle Stevenson in BHD Research Blog

Drug repurposing is predicated on the fact that many diseases are caused by the dysregulation of similar signaling pathways, or that drugs may affect several biological targets at once, meaning that a single drug may be able to treat multiple … Continue reading →... Read more »

  • November 14, 2014
  • 03:00 AM
  • 118 views

Nephron-sparing surgery reduces the risk of cardiovascular events

by Danielle Stevenson in BHD Research Blog

Radical nephrectomy is generally the preferred method to treat advanced kidney cancers, while partial nephrectomy is performed when the disease is localised, or if the patient has a genetic predisposition to developing kidney tumours. However, a recent study suggests that … Continue reading →... Read more »

  • November 7, 2014
  • 03:00 AM
  • 170 views

Cohort study describes the kidney tumour characteristics of 33 BHD patients

by Danielle Stevenson in BHD Research Blog

In order to determine the characteristics of renal cell carcinomas (RCC) in BHD patients, Benusiglio et al. (2014) recruited 124 French BHD patients from Hôpital Bicêtre near Paris, and the Edouard Herriot University Hospital in Lyon. Of the patients recruited, … Continue reading →... Read more »

  • October 31, 2014
  • 06:22 AM
  • 173 views

TSC1 is required for iNKT cell maturation and function

by Danielle Stevenson in BHD Research Blog

Invariant Natural Killer T (iNKT) cell development is highly regulated, starting at stage 0, where DP thermocytes become committed to the iNKT cell lineage, and ending as fully mature stage 3 iNKT cells, which are capable of illiciting an immune … Continue reading →... Read more »

Wu J, Yang J, Yang K, Wang H, Gorentla B, Shin J, Qiu Y, Que LG, Foster WM, Xia Z.... (2014) iNKT cells require TSC1 for terminal maturation and effector lineage fate decisions. The Journal of clinical investigation, 124(4), 1685-98. PMID: 24614103  

  • October 24, 2014
  • 03:00 AM
  • 164 views

Somatic mutations in FLCN can cause cancer

by Danielle Stevenson in BHD Research Blog

The majority of research on FLCN is within the context of BHD syndrome, which is caused by heterozygous germline mutations in the FLCN gene. However, two recent papers have reported that somatic FLCN mutations may be a factor in the … Continue reading →... Read more »

Wagle N, Grabiner BC, Van Allen EM, Amin-Mansour A, Taylor-Weiner A, Rosenberg M, Gray N, Barletta JA, Guo Y, Swanson SJ.... (2014) Response and acquired resistance to everolimus in anaplastic thyroid cancer. The New England journal of medicine, 371(15), 1426-33. PMID: 25295501  

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