ArticlePloS one2018
Kidney cancer characteristics and genotype-phenotype-correlations in Birt-Hogg-Dubé syndrome.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome.European journal of human genetics : EJHG · 2024Guideline
- Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome - a matched cohort study.British journal of cancer · 2026Article
- A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions.Familial cancer · 2024Article
- A novel variant in the FLCN gene in a Chinese family with Birt-Hogg-Dubé syndrome.Molecular genetics & genomic medicine · 2024Article
- Folliculin gene-negative Birt-Hogg-Dube syndrome: a case report.Annals of medicine and surgery (2012) · 2024Article
- Exons 1-3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome.Orphanet journal of rare diseases · 2023Article
- Risk of pneumothorax in Birt-Hogg-Dubé syndrome during pregnancy and birth.Frontiers in medicine · 2023Article
- Delayed diagnosis of Birt-Hogg-Dubé syndrome might be aggravated by gender bias.EClinicalMedicine · 2022Article
- Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature.BMC medical genomics · 2022Review
- A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.PloS one · 2022Article
- Cutaneous Expression of Familial Cancer Syndromes.Acta dermato-venereologica · 2021Review
- [Cancer-associated genodermatoses].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2021Review
- A case report of recurrent pneumothoraces as a presentation of Birt Hogg Dube syndrome.Respiratory medicine case reports · 2021Article
- Molecular characterization of chromophobe renal cell carcinoma reveals mTOR pathway alterations in patients with poor outcome.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- Evaluating the clinical significance of SHMT2 and its co-expressed gene in human kidney cancer.Biological research · 2020Article
- Ultra-rare cystic disease.European respiratory review : an official journal of the European Respiratory Society · 2020Article
- Birt-Hogg-Dubé syndrome.European respiratory review : an official journal of the European Respiratory Society · 2020Article
- Birt-Hogg-Dubé syndrome presenting with macroscopic pulmonary cyst formation in a 15-year-old.Respirology case reports · 2020Article
- Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Application Areas of Traditional Molecular Genetic Methods and NGS in relation to Hereditary Urological Cancer Diagnosis.Journal of oncology · 2020Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Birt-Hogg-Dubé syndrome (BHDS) is a genetic tumor syndrome characterized by lung cysts, pneumothorax, fibrofolliculomas and renal cell cancer. The diagnosis of BHDS is usually considered if kidney cancer occurs before age 50 years, is multifocal and/or bilateral or of the oncocytoma/hybrid oncocytoma-chromophobe type. Using a sample of 50 BHDS families with a total of 178 patients we analyzed how many kidney cancer patients fulfilled one or more of these criteria. Furthermore, we addressed the question if genotype-phenotype-correlations exist that can be used for risk stratification. Renal cell cancer occurred in 34/178 (19.1%) patients, and the reported male bias was not observed. Furthermore, most kidney malignancies occurred after the age of 50 years. Thus, the majority of tumors did not show the typical hallmarks of BHDS. A below-average tumor frequency (17.2%) was observed for the known mutational hotspot c.1285delC/dupC that was the cause of BHDS in 24% of families. Unexpected was the high tumor frequency (66.7%) associated with mutation c.887C>G within a single family, a finding that merits further exploration.
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