ArticleIntractable & rare diseases research2015
The Birt-Hogg-Dubé cancer predisposition syndrome: Current challenges.
Article in Intractable & rare diseases research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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
3 citing papers in PubMed, 6 citations in OpenAlex.
- Birt-Hogg-Dubé syndrome: awareness is important!BMJ case reports · 2017Article
- Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report.Familial cancer · 2017Article
- Birt-Hogg-Dubé syndrome: a case report and a review of the literature.European clinical respiratory journal · 2017Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Birt-Hogg-Dubé is a rare syndrome in which carriers of germline mutations in the FLCN tumor suppressor gene are at risk of renal cell carcinoma of all histologies, most often of the chromophobe or hybrid chromophobe-oncocytoma type. Non-oncological manifestations such as lung cysts, pneumothoraces and skin fibrofolliculomas are also common. How germline mutations in a single gene can cause such different clinical features is intriguing and not fully explained, but involvement of the mTOR (renal cell carcinomas, lung cysts) and WNT (fibrofolliculomas) pathways has been described. Given the rarity of the condition, frequent exchanges of ideas between expert teams from around the world, multicentre international collaborations, and interactions between patients and researchers are essential. These needs are fulfilled through dedicated international symposia held every one to two years and through online resources aimed at patients and relatives.
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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.