Evidence map›Paper›PMID 34282142›Full record

ArticleNPJ genomic medicine2021

Incidental findings from cancer next generation sequencing panels.

Nika Maani, Karen Panabaker, Jeanna M McCuaig, Kathleen Buckley, Kara Semotiuk, Kirsten M Farncombe, Peter Ainsworth, Seema Panchal, Bekim Sadikovic, Susan Randall Armel and 2 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
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

13 citing papers in PubMed, 19 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

12 authors at 6 institutions in 1 country.

Nika MaaniProgram for Genetics and Genome Biology, Hospital for Sick Children, Toronto, ON, Canada.
Karen PanabakerMedical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON, Canada.
Jeanna M McCuaigDepartment of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Kathleen BuckleyGrand River Hospital, Kitchener, ON, Canada.
Kara SemotiukZane Cohen Centre for Digestive Diseases, Familial Gastrointestinal Cancer Registry, Mount Sinai Hospital, Toronto, ON, Canada.
Kirsten M FarncombeToronto General Hospital Research Institute, University Health Network, Toronto, ON, Canada.ORCID http://orcid.org/0000-0001-9413-201X
Peter AinsworthMolecular Genetics Laboratory, Division of Molecular Diagnostics, London Health Sciences Centre, London, ON, Canada.
Seema PanchalDepartment of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Bekim SadikovicMolecular Genetics Laboratory, Division of Molecular Diagnostics, London Health Sciences Centre, London, ON, Canada.
Susan Randall ArmelDepartment of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Hanxin Lin *Molecular Genetics Laboratory, Division of Molecular Diagnostics, London Health Sciences Centre, London, ON, Canada. hanxinlin@lhsc.on.ca.ORCID http://orcid.org/0000-0002-1829-222X
Raymond H Kim *Familial Cancer Clinic, Princess Margaret Hospital Cancer Centre, Toronto, ON, Canada. raymond.kim@uhn.ca.ORCID http://orcid.org/0000-0002-2147-8674
University of Toronto · CALondon Health Sciences Centre · CAMount Sinai Hospital · CAWestern University · CAGrand River Hospital · CAUniversity Health Network · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Next-generation sequencing (NGS) technologies have facilitated multi-gene panel (MGP) testing to detect germline DNA variants in hereditary cancer patients. This sensitive technique can uncover unexpected, non-germline incidental findings indicative of mosaicism, clonal hematopoiesis (CH), or hematologic malignancies. A retrospective chart review was conducted to identify cases of incidental findings from NGS-MGP testing. Inclusion criteria included: 1) multiple pathogenic variants in the same patient; 2) pathogenic variants at a low allele fraction; and/or 3) the presence of pathogenic variants not consistent with family history. Secondary tissue analysis, complete blood count (CBC) and medical record review were conducted to further delineate the etiology of the pathogenic variants. Of 6060 NGS-MGP tests, 24 cases fulfilling our inclusion criteria were identified. Pathogenic variants were detected in TP53, ATM, CHEK2, BRCA1 and APC. 18/24 (75.0%) patients were classified as CH, 3/24 (12.5%) as mosaic, 2/24 (8.3%) related to a hematologic malignancy, and 1/24 (4.2%) as true germline. We describe a case-specific workflow to identify and interpret the nature of incidental findings on NGS-MGP. This workflow will provide oncology and genetic clinics a practical guide for the management and counselling of patients with unexpected NGS-MGP findings.

Identifiers

PMID34282142
PMCPMC8289933
OpenAlexW3184751628

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.