ArticleFamilial cancer2013
A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.
Article in Familial cancer, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- Hereditary Renal Cancer Syndromes.Medical sciences (Basel, Switzerland) · 2024Review
- Bibliometric Analysis of Birt-Hogg-Dubé Syndrome From 2001 to 2021.Frontiers in medicine · 2022Article
- Epidemiology and clinical features of Birt-Hogg-Dubé syndrome: A nationwide population-based study in South Korea.PloS one · 2022Article
- Lymphoplasmacytic lymphoma in a patient with Birt-Hogg-Dubé syndrome.International journal of hematology · 2020Article
- Birt-Hogg-Dubé syndrome.European respiratory review : an official journal of the European Respiratory Society · 2020Article
- Birt-Hogg-Dubé syndrome-associated renal cell carcinoma: Histopathological features and diagnostic conundrum.Cancer science · 2020Review
- The Genetics of Pneumothorax.American journal of respiratory and critical care medicine · 2019Review
- Novel germline mutations in FLCN gene identified in two Chinese patients with Birt-Hogg-Dubé syndrome.Chinese journal of cancer · 2017Article
- Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome.Cancer science · 2015Article
- FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation.Autophagy · 2014Article
- Birt-Hogg-Dube syndrome is a novel ciliopathy.Human molecular genetics · 2013Article
- Anesthetic management for Birt-Hogg-Dubé syndrome case.Saudi journal of anaesthesiaArticle
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition due to germline FLCN (folliculin) mutations, characterized by skin fibrofolliculomas, lung cysts, pneumothorax and renal cancer. We identified a de novo FLCN mutation, c.499C>T (p.Gln167X), in a patient who presented with spontaneous pneumothorax. Subsequently, typical skin features and asymptomatic renal cancer were diagnosed. Probably, de novo FLCN mutations are rare. However, they may be under-diagnosed if BHD is not considered in sporadic patients who present with one or more of the syndromic features. Genetic and immunohistochemical analysis of the renal tumour indicated features compatible with a tumour suppressor role of FLCN. The finding that mutant FLCN was expressed in the tumour might indicate residual functionality of mutant FLCN, a notion which will be explored in future studies.
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