Evidence map›Paper›PMID 28063109›Full record

ArticleFamilial cancer2017

Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study.

Maryam Mahmoodi, Tu Nguyen-Dumont, Fleur Hammet, Bernard J Pope, Daniel J Park, Melissa C Southey, John M Darlow, Fiona Bruinsma, Ingrid Winship

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In one paragraph

Article in Familial cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.6field-weighted citation impact, top 35% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. 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

9 authors at 4 institutions in 2 countries.

Maryam MahmoodiGenetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, VIC, 3010, Australia.
Tu Nguyen-DumontGenetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, VIC, 3010, Australia. tun@unimelb.edu.au.
Fleur HammetGenetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, VIC, 3010, Australia.
Bernard J PopeVictorian Life Sciences Computation Initiative, Melbourne, VIC, 3010, Australia.
Daniel J ParkGenetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, VIC, 3010, Australia.
Melissa C SoutheyGenetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, VIC, 3010, Australia.
John M DarlowDepartment of Clinical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, 12, Ireland.
Fiona BruinsmaCancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC, Australia.
Ingrid WinshipDepartment of Medicine, The Universityof Melbourne, Melbourne, Australia.
University of Melbourne · AUCancer Council Victoria · AUNational Children’s Research Centre · IEThe Royal Melbourne Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

An apparently balanced t(2;3)(q37.3;q13.2) translocation that appears to segregate with renal cell carcinoma (RCC) has indicated potential areas to search for the elusive genetic basis of clear cell RCC. We applied Hi-Plex targeted sequencing to analyse germline DNA from 479 individuals affected with clear cell RCC for this breakpoint translocation and genetic variants in neighbouring genes on chromosome 2, ACKR3 and COPS8. While only synonymous variants were found in COPS8, one of the missense variants in ACKR3:c.892C>T, observed in 4/479 individuals screened (0.8%), was predicted likely to damage ACKR3 function. Identification of causal genes for RCC has potential clinical utility, where risk assessment and risk management can offer better outcomes, with surveillance for at-risk relatives and nephron sparing surgery through earlier intervention.

Indexed as

AdultCarcinoma, Renal CellCase-Control StudiesCOP9 Signalosome ComplexDNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseHumansKidney NeoplasmsMaleMiddle AgedProteinsReceptors, CXCRACKR3 protein, humanCOP9 Signalosome ComplexCOPS8 protein, humanProteinsReceptors, CXCRACKR3COPS8Hi-PlexKidney cancerMassively parallel sequencingMutation screening

Identifiers

PMID28063109
OpenAlexW2569653989

What OpenQuestion holds

Textmetadata
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.