Evidence map›Paper›PMID 30008023›Full record

ArticleJournal of cancer research and clinical oncology2018

An insight into the molecular genetics of a uveal melanoma patient cohort.

Susan Kennedy, Michael Rice, Sinead Toomey, Noel Horgan, Bryan T Hennessey, Annemarie Larkin

Registry-linked trialOpen access · greenAbstract read
In one paragraph

Article in Journal of cancer research and clinical oncology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05047276 (Phase I/II Study of AloCelyvir in Patients With Metastatic Uveal Melanoma), which is not on this map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-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.

NCT05047276 phase1 / phase2unknown statusnot on this mapstarted 2021, after this paper: background citation

Phase I/II Study of AloCelyvir in Patients With Metastatic Uveal Melanoma

TypeinterventionalSponsorJosé María Piulats RodríguezRan2021 to 2024Enrolled16ConditionsUveal Melanoma, MetastaticArmsAloCelyvir
3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Cancers · 2022
    Review
  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

6 authors at 4 institutions in 1 country.

Susan KennedyNational Ophthalmic Laboratory, Royal Victoria Eye and Ear Hospital, Adelaide Road, Dublin 2, Ireland.
Michael RiceNational Ophthalmic Laboratory, Royal Victoria Eye and Ear Hospital, Adelaide Road, Dublin 2, Ireland.
Sinead ToomeyDepartment of Medical Oncology, Royal College of Surgeons in Ireland, Beaumont Hospital, Beaumont, Dublin 9, Ireland.
Noel HorganNational Ophthalmic Laboratory, Royal Victoria Eye and Ear Hospital, Adelaide Road, Dublin 2, Ireland.
Bryan T HennesseyDepartment of Medical Oncology, Royal College of Surgeons in Ireland, Beaumont Hospital, Beaumont, Dublin 9, Ireland.
Annemarie LarkinNational Institute for Cellular Biotechnology, Dublin City University, Glasnevin, Dublin 9, Ireland. annemarie.larkin@dcu.ie.
Royal Victoria Eye and Ear Hospital · IEBeaumont Hospital · IEDublin City University · IERoyal College of Surgeons in Ireland · IE

Funding

Science Foundation Ireland 08/SRC/B1410
6 · The paper itself

Abstract

BACKGROUND/

aimsUveal melanoma (UM) is a highly aggressive malignancy and presents a clinically significant unmet need in cancer therapeutics. The aim of this study was to identify previously unreported mutations in UM among an Irish cohort of patients which may have potential clinical relevance.

methodsDNA was extracted from 36 intraocular melanoma patient samples and 4 metastatic melanoma samples among the patient cohort by microdissection from formalin-fixed paraffin embedded tissue blocks and underwent genotyping to test for known single nucleotide polymorphisms in 42 cancer associated genes. These mutations were analysed using a custom-designed sequenom panel.

resultsUsing high-throughput genotyping, mutually exclusive GNAQ and GNA11 mutations were detected in 31 of 34 UM patients together with a number of non-synonymous changes in established cancer driver genes, PHLPP2, MET, PIK3R1 and IDH-1, variants which have not been previously associated with UM.

conclusionGiven the lack of knowledge regarding the clinical relevance of the variants identified in this UM cohort and their likely pathogenic nature in other cancers, further studies of the functional impact of these variant mutations are warranted to establish possible previously, undescribed roles in UM pathogenesis, which may provide additional targets for future therapies.

Indexed as

AdultAgedAged, 80 and overCohort StudiesFemaleGenotyping TechniquesHumansIn Situ Hybridization, FluorescenceMaleMass SpectrometryMelanomaMiddle AgedPolymorphism, Single NucleotideUveal MelanomaUveal NeoplasmsImmunotherapyMutationSNP genotypingTargeted therapyUnmet needUveal melanoma

Identifiers

PMID30008023
PMCPMC11813499
OpenAlexW2884219798

What OpenQuestion holds

Textmetadata
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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.