Evidence map›Paper›PMID 32090079›Full record

ArticleBioMed research international2020

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Sun Hee Rosenthal, Weimin Sun, Ke Zhang, Yan Liu, Quoclinh Nguyen, Anna Gerasimova, Camille Nery, Linda Cheng, Carolyn Castonguay, Elaine Hiller and 10 more

Open access · hybridAbstract readValidation Study
In one paragraph

Article in BioMed research international, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.0field-weighted citation impact, top 25% 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

6 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. BeyondJournal of clinical medicine · 2020
    Article
  6. Mismatch Repair Pathway, Genome Stability and Cancer.Frontiers in molecular biosciences · 2020
    Review
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

20 authors at 1 institution in 1 country.

Sun Hee RosenthalDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.
Weimin SunDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.
Ke ZhangDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.
Yan LiuDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.
Quoclinh NguyenDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.
Anna GerasimovaDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.ORCID https://orcid.org/0000-0002-6307-7086
Camille NeryDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.
Linda ChengDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.ORCID https://orcid.org/0000-0002-7418-5621
Carolyn CastonguayDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.
Elaine HillerDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.
James LiDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.
Christopher ElzingaAthena/Quest Diagnostics, Marlborough, MA 01752, USA.
David WolfsonDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.ORCID https://orcid.org/0000-0003-4105-6038
Alla SmolgovskyDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.ORCID https://orcid.org/0000-0002-9958-5920
Rebecca ChenDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.
Arlene Buller-BurckleDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.
Joseph CataneseDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.ORCID https://orcid.org/0000-0001-5252-2159
Andrew GrupeDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.
Felicitas LacbawanDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.
Renius OwenDepartment of Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675, USA.ORCID https://orcid.org/0000-0001-9499-5608
Quest Diagnostics (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The use of genetic testing to identify individuals with hereditary cancer syndromes has been widely adopted by clinicians for management of inherited cancer risk. The objective of this study was to develop and validate a 34-gene inherited cancer predisposition panel using targeted capture-based next-generation sequencing (NGS). The panel incorporates genes underlying well-characterized cancer syndromes, such as

Indexed as

Genes, NeoplasmGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingDNA Copy Number VariationsHumansINDEL MutationInheritance PatternsReproducibility of Results

Identifiers

PMID32090079
PMCPMC6998746
OpenAlexW3000822266

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.