Evidence map›Paper›PMID 31138931›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019

Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC).

Fady M Mikhail, Jaclyn A Biegel, Linda D Cooley, Adrian M Dubuc, Betsy Hirsch, Vanessa L Horner, Scott Newman, Lina Shao, Daynna J Wolff, Gordana Raca

Open access · bronzeAbstract readConsensus Statement
PubMed Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed, 1 pooled it
2.2field-weighted citation impact, top 12% 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

45 citing papers in PubMed, 1 synthesis or guideline pooled it, 74 citations in OpenAlex.

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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

10 authors at 9 institutions in 1 country.

Fady M MikhailDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA. fmikhail@uab.edu.ORCID http://orcid.org/0000-0003-3517-1902
Jaclyn A BiegelDepartment of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Linda D CooleyDepartment of Pathology and Laboratory Medicine, Children's Mercy Hospital, University of Missouri Kansas City Medical School, Kansas City, MO, USA.
Adrian M DubucDepartment of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Betsy HirschDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA.
Vanessa L HornerDepartment of Pathology and Laboratory Medicine, University of Wisconsin, Madison, WI, USA.
Scott NewmanDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Lina ShaoDepartment of Pathology, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0002-6650-1698
Daynna J WolffDepartment of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, USA.
Gordana RacaDepartment of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
University of Southern California · USBrigham and Women's Hospital · USChildren's Mercy Hospital · USMedical University of South Carolina · USSt. Jude Children's Research Hospital · USUniversity of Alabama at Birmingham · USUniversity of Michigan · USUniversity of Minnesota · USUniversity of Wisconsin–Madison · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The detection of acquired copy-number abnormalities (CNAs) and copy-neutral loss of heterozygosity (CN-LOH) in neoplastic disorders by chromosomal microarray analysis (CMA) has significantly increased over the past few years with respect to both the number of laboratories utilizing this technology and the broader number of tumor types being assayed. This highlights the importance of standardizing the interpretation and reporting of acquired variants among laboratories. To address this need, a clinical laboratory-focused workgroup was established to draft recommendations for the interpretation and reporting of acquired CNAs and CN-LOH in neoplastic disorders. This project is a collaboration between the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC). The recommendations put forth by the workgroup are based on literature review, empirical data, and expert consensus of the workgroup members. A four-tier evidence-based categorization system for acquired CNAs and CN-LOH was developed, which is based on the level of available evidence regarding their diagnostic, prognostic, and therapeutic relevance: tier 1, variants with strong clinical significance; tier 2, variants with some clinical significance; tier 3, clonal variants with no documented neoplastic disease association; and tier 4, benign or likely benign variants. These recommendations also provide a list of standardized definitions of terms used in the reporting of CMA findings, as well as a framework for the clinical reporting of acquired CNAs and CN-LOH, and recommendations for how to deal with suspected clinically significant germline variants.

Indexed as

DNA Copy Number VariationsGenetics, MedicalGenome, HumanGenomicsHumansLaboratoriesLoss of HeterozygosityMicroarray AnalysisMutationNeoplasmsacquired variantscancerchromosomal microarraycopy-number abnormalitiesinterpretation

Identifiers

PMID31138931
OpenAlexW2947314900

What OpenQuestion holds

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Registered trials

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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.