Evidence map›Paper›PMID 29680948›Full record

ReviewWorld journal of urology2018

Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.

Eamonn R Maher

Open access · hybridAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in World journal of urology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
75citing papers in PubMed, 2 pooled it
10.4field-weighted citation impact, top 1% 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

75 citing papers in PubMed, 2 syntheses or guidelines pooled it, 156 citations in OpenAlex.

  1. Guideline
  2. NCCN Guidelines Insights: Kidney Cancer, Version 1.2021.Journal of the National Comprehensive Cancer Network : JNCCN · 2020
    Guideline
  3. Article
  4. Review
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  8. Article
  9. Review
  10. Article
  11. Article
  12. Review
  13. Review
  14. Article
  15. Article
  16. [Succinate Dehydrogenase-Deficient Renal Cell Carcinoma: Clinicopathological Analysis of 11 Cases].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2024
    Article
  17. Review
  18. Review
  19. The evolving management of small renal masses.Nature reviews. Urology · 2024
    Review
  20. Article

15 more citing papers are in PubMed but not listed here.

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

1 author at 1 institution in 1 country.

Eamonn R MaherDepartment of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Cancer Centre, Cambridge, CB2 0QQ, UK. erm1000@medschl.cam.ac.uk.ORCID http://orcid.org/0000-0002-6226-6918
University of Cambridge · GB

Funding

European Research Council Advanced Researcher Award
6 · The paper itself

Abstract

purposeGenetic factors have been implicated in the pathogenesis of renal cell carcinoma (RCC), with around 3% of cases having a family history. A greater knowledge of the genetics of inherited RCC has the potential to translate into novel therapeutic targets for sporadic RCC.

methodsA literature review was performed summarising the current knowledge on hereditary RCC diagnosis, surveillance and management.

resultsFamilial RCC is usually inherited in an autosomal dominant manner, although inherited RCC may present without a relevant family history. A number of familial RCC syndromes have been identified. Familial non-syndromic RCC is suspected when ≥ 2 relatives are affected in the absence of syndromic features, although clear diagnostic criteria are lacking. Young age at onset and bilateral/multicentric tumours are recognised characteristics which should prompt molecular genetic analysis. Surveillance in individuals at risk of inherited RCC aims to prevent morbidity and mortality via early detection of tumours. Though screening and management guidelines for some inherited RCC syndromes (e.g. von Hippel-Lindau disease, Birt-Hogg-Dube syndrome, hereditary leiomyomatosis) are well defined for rare cause of inherited RCC (e.g. germline BAP1 mutations), there is limited information regarding the lifetime RCC risks and the most appropriate screening modalities.

conclusionIncreasing knowledge of the natural history and genetic basis has led to characterisation and tailored management of hereditary RCC syndromes. International data sharing of inherited RCC gene variant information may enable evidence-based improvements in the diagnosis, surveillance protocols and management of these rare conditions.

Indexed as

Age of OnsetBirt-Hogg-Dube SyndromeCarcinoma, Renal CellDisease ManagementEarly Detection of CancerFumarate HydrataseHumansKidney NeoplasmsLeiomyomatosisNeoplasms, Multiple PrimaryNeoplastic Syndromes, HereditaryProto-Oncogene ProteinsProto-Oncogene Proteins c-metSkin NeoplasmsSuccinate DehydrogenaseTumor Suppressor ProteinsBAP1 protein, humanFLCN protein, humanFumarate HydrataseMET protein, humanProto-Oncogene ProteinsProto-Oncogene Proteins c-metSuccinate DehydrogenaseTumor Suppressor ProteinsUbiquitin ThiolesteraseVHL protein, humanVon Hippel-Lindau Tumor Suppressor ProteinFamilial syndromic renal cancerGeneticsvon Hippel–Lindau review

Identifiers

PMID29680948
PMCPMC6280834
OpenAlexW2802843454

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.