Evidence map›Paper›PMID 21085193›Full record

ArticleThe Journal of investigative dermatology2011

A flexible multiplex bead-based assay for detecting germline CDKN2A and CDK4 variants in melanoma-prone kindreds.

Julie M Lang, Michael Shennan, Jenny C-N Njauw, Su Luo, Julia N Bishop, Mark Harland, Nicholas K Hayward, Margaret A Tucker, Alisa M Goldstein, Maria T Landi and 7 more

Open access · bronzeAbstract readValidation Study
In one paragraph

Article in The Journal of investigative dermatology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.0field-weighted citation impact, top 22% 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

7 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. The use of luminex assays to measure cytokines.The Journal of investigative dermatology · 2015
    Article
  5. Melanoma: clinical features and genomic insights.Cold Spring Harbor perspectives in medicine · 2014
    Review
  6. Article
  7. 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

17 authors at 9 institutions in 7 countries.

Julie M LangDepartment of Medicine, University of Toronto, Toronto, Ontario, Canada.
Michael Shennan
Jenny C-N Njauw
Su Luo
Julia N Bishop
Mark Harland
Nicholas K Hayward
Margaret A Tucker
Alisa M Goldstein
Maria T Landi
Susana Puig
Nelleke A Gruis
Wilma Bergman
Giovanna Bianchi-Scarra
Paola Ghiorzo
David Hogg
Hensin Tsao
Massachusetts General Hospital · USNational Cancer Institute · USUniversity of Toronto · CALeiden University Medical Center · NLUniversity of Leeds · GBCentro de Investigación Biomédica en Red · ESOspedale Policlinico San Martino · ITQIMR Berghofer Medical Research Institute · AUUniversity of Genoa · IT

Funding

Targeting Raf in Melanoma: Mechanisms for Effect & Resistance & Opportunities forP50CA093683 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI MIER, JAMES W · 2001 to 2012
$25.8M
Genetic Epidermiology of MelanomaR01CA083115 · NCI · UNIVERSITY OF PENNSYLVANIA · PI BISHOP, DAVID TIMOTHY, ELDER, DAVID ERIC · 2001 to 2017
$13.0M
Molecular Risk Assessment in Hereditary MelanomaK24CA149202 · NCI · MASSACHUSETTS GENERAL HOSPITAL · PI TSAO, HENSIN · 2010 to 2019
$1.9M
Cancer Research UK 10589NCI NIH HHS K24 CA149202NCI NIH HHS P50 CA93683NCI NIH HHS R01 CA083115NCI NIH HHS R01 CA83115
6 · The paper itself

Abstract

The presence of recurrent high-risk mutations in cyclin-dependent kinase inhibitor 2A/cyclin-dependent kinase 4 (CDKN2A/CDK4) among melanoma-prone families suggests that a high-throughput, multiplex assay could serve as an effective initial screening tool. To this end, we have developed a multiplex bead-based assay for high-throughput CDKN2A/CDK4 genotyping in the context of familial melanoma. Genomic DNA from 1,603 subjects (1,005 in training set and 598 in validation set) were amplified by multiplex PCR using five CDKN2A/CDK4 primer sets followed by multiplex allele-specific primer extension for 39 distinct germline variants. The products were then sorted and analyzed using the Luminex xMAP system. Genotypes were compared with previously determined sequence data. In the Toronto training cohort, all 145 samples with known variants were detected by the bead assay (100% concordance). Analysis of the 598 samples from the GenoMEL validation set led to identification of 150/155 expected variants (96.77%). Overall, the bead assay correctly genotyped 1,540/1,603 (96.07%) of all individuals in the study and 1,540/1,545 (99.68%) of individuals whose variants were represented in the probe set. Out of a total of 62,517 allelic calls, 62,512 (99.99%) were correctly assigned. The multiplex bead-based assay is an accurate method for genotyping CDKN2A/CDK4 variants and is potentially useful in genotyping low-to-moderate melanoma risk single-nucleotide polymorphisms.

Indexed as

AllelesCyclin-Dependent Kinase 4Cyclin-Dependent Kinase Inhibitor p16DNA, NeoplasmGenetic TestingGenotypeGerm-Line MutationHumansMelanomaMicrospheresOligonucleotide Array Sequence AnalysisReproducibility of ResultsSkin NeoplasmsCyclin-Dependent Kinase 4Cyclin-Dependent Kinase Inhibitor p16DNA, Neoplasm

Identifiers

PMID21085193
PMCPMC3045700
OpenAlexW2015893941

What OpenQuestion holds

Textmetadata
LicenceTDM
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.