Evidence map›Paper›PMID 28069055›Full record

ArticleChinese journal of cancer2017

Novel germline mutations in FLCN gene identified in two Chinese patients with Birt-Hogg-Dubé syndrome.

Teng Li, Xianghui Ning, Qun He, Kan Gong

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Chinese journal of cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.6field-weighted citation impact, top 30% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Review
  5. Detection ofBioMed research international · 2017
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 2 institutions in 1 country.

Teng LiDepartment of Urology, Institute of Urology, National Urological Cancer Center, Peking University First Hospital, Peking University, No. 8, Xishiku Street, Xicheng District, Beijing, 100034, P. R. China.
Xianghui NingDepartment of Urology, Institute of Urology, National Urological Cancer Center, Peking University First Hospital, Peking University, No. 8, Xishiku Street, Xicheng District, Beijing, 100034, P. R. China.
Qun HeDepartment of Urology, Institute of Urology, National Urological Cancer Center, Peking University First Hospital, Peking University, No. 8, Xishiku Street, Xicheng District, Beijing, 100034, P. R. China.
Kan GongDepartment of Urology, Institute of Urology, National Urological Cancer Center, Peking University First Hospital, Peking University, No. 8, Xishiku Street, Xicheng District, Beijing, 100034, P. R. China. gongkan_pku@126.com.
Peking University · CNPeking University First Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Birt-Hogg-Dubé (BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin (FLCN) gene, is characterized by the presence of fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma (RCC). Few BHD syndrome cases have been reported in Asian countries, and cutaneous presentations are relatively rare in Asian patients. Asian BHD patients may be misdiagnosed due to their atypical manifestations. Here, we report two Chinese BHD patients with novel FLCN mutations (c.946-947delAG in exon 9 and c.770-772delCCT in exon 7). Both of them had RCC and spontaneous pneumothorax without fibrofolliculomas. In patients with RCC and pulmonary cysts but without cutaneous lesions, screening for mutations in the FLCN gene should be performed, especially for those with a family history of RCC or pulmonary cysts (pneumothorax).

Indexed as

Germ-Line MutationAdultAsian PeopleBirt-Hogg-Dube SyndromeChinaHumansMaleMiddle AgedProto-Oncogene ProteinsSequence DeletionTomography Scanners, X-Ray ComputedTumor Suppressor ProteinsFLCN protein, humanProto-Oncogene ProteinsTumor Suppressor ProteinsBirt–Hogg–Dubé syndromeMutationRenal cell carcinomaThe folliculin (FLCN) gene

Identifiers

PMID28069055
PMCPMC5220607
OpenAlexW2570077097

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

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.