ReviewNature reviews. Urology2015
Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.
Review in Nature reviews. Urology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 137 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
137 citing papers in PubMed, 4 syntheses or guidelines pooled it, 249 citations in OpenAlex.
- A Possible Association of Salivary Gland Tumors and Oral Lesions with Birt-Hogg-Dube Syndrome: A Systematic Review.Head and neck pathology · 2024Pooled it
- A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours.European journal of human genetics : EJHG · 2021Pooled it
- New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Guideline
- Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights.European urology · 2019Pooled it
- Synergistic role of TFEB/TFE3 and mTORC1 in kidney cystogenesis and tumorigenesis.Cell death and differentiation · 2026Article
- Renal cell carcinoma: molecular understanding and therapeutic development.Cell death and differentiation · 2026Review
- Aggressive high-grade papillary-patterned renal cell carcinomas harboring FLCN mutations: expanding the clinicopathological spectrum in Birt-Hogg-Dubé syndrome and sporadic cases.Virchows Archiv : an international journal of pathology · 2026Article
- Parotid Oncocytomas Express the Glycoprotein Non-metastatic Melanoma Protein B (GPNMB): A Potential Link with Birt-Hogg-Dubé Syndrome.Head and neck pathology · 2026Article
- PEComas: current concepts in diagnosis, molecular pathways, and emerging treatments.The oncologist · 2026Review
- Birt-Hogg-Dubé: CT characteristics of renal tumors in a rare syndrome.Abdominal radiology (New York) · 2026Article
- Review
- A Case of Birt-Hogg-Dubé Syndrome: A Rare but Essential Diagnosis to Consider.Federal practitioner : for the health care professionals of the VA, DoD, and PHS · 2026Article
- Genotype-based prevalence of Birt-Hogg-Dubé syndrome in the healthcare and genomic registry populations - breaking the 'rare disease' status?NPJ genomic medicine · 2026Article
- Adrenocortical carcinoma as a manifestation of Birt-Hogg-Dubé syndrome.Endocrine-related cancer · 2026Article
- FLCN-mutated eosinophilic renal tumors: clinicopathologic and molecular analysis of five cases highlighting morphologic heterogeneity.Virchows Archiv : an international journal of pathology · 2026Article
- Clinical Updates on Birt-Hogg-Dubé Syndrome and Atypical Presentations: Diagnosis and Management.Dermatology practical & conceptual · 2026Review
- Hereditary renal cell carcinoma surveillance protocols: a review of the literature and proposed recommendations.Familial cancer · 2026Review
- Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome - a matched cohort study.British journal of cancer · 2026Article
- FLCN loss is characterized by SQSTM1/p62 accumulation despite functional autophagy flux in Birt-Hogg-Dubé syndrome-associated kidney cancer.Autophagy reports · 2026Article
- Substrate-selective mTORC1 regulation and gene dosage-dependent tissue divergence in Birt-Hogg-Dubé syndrome.Frontiers in oncology · 2026Review
77 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Birt-Hogg-Dubé (BHD) syndrome is an inherited renal cancer syndrome in which affected individuals are at risk of developing benign cutaneous fibrofolliculomas, bilateral pulmonary cysts and spontaneous pneumothoraces, and kidney tumours. Bilateral multifocal renal tumours that develop in BHD syndrome are most frequently hybrid oncocytic tumours and chromophobe renal carcinoma, but can present with other histologies. Germline mutations in the FLCN gene on chromosome 17 are responsible for BHD syndrome--BHD-associated renal tumours display inactivation of the wild-type FLCN allele by somatic mutation or chromosomal loss, confirming that FLCN is a tumour suppressor gene that fits the classic two-hit model. FLCN interacts with two novel proteins, FNIP1 and FNIP2, and with AMPK, a negative regulator of mTOR. Studies with FLCN-deficient cell and animal models support a role for FLCN in modulating the AKT-mTOR pathway. Emerging evidence links FLCN with a number of other molecular pathways and cellular processes important for cell homeostasis that are frequently deregulated in cancer, including regulation of TFE3 and/or TFEB transcriptional activity, amino-acid-dependent mTOR activation through Rag GTPases, TGFβ signalling, PGC1α-driven mitochondrial biogenesis, and autophagy. Currently, surgical intervention is the only therapy available for BHD-associated renal tumours, but improved understanding of the FLCN pathway will hopefully lead to the development of effective forms of targeted systemic therapy for this disease.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.