Evidence map›Paper›PMID 41046341›Full record

ArticleMolecular oncology2026

Tumor and germline testing with next generation sequencing in epithelial ovarian cancer: a prospective paired comparison using an 18-gene panel.

Elisabeth Spenard, Cristina Mitric, Melanie Care, Tracy L Stockley, Raymond H Kim, Jeanna McCuaig, Blaise Clarke, Laura Ranich, Clare Sheen, Sarah E Ferguson and 3 more

Abstract readComparative Study
In one paragraph

Article in Molecular oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

13 authors.

Elisabeth SpenardDivision of Gynecologic Oncology, University of Toronto, Canada.
Cristina MitricDivision of Gynecologic Oncology, University of Toronto, Canada.ORCID https://orcid.org/0000-0002-5499-240X
Melanie CareLaboratory Medicine Program, Division of Clinical Laboratory Genetics, University Health Network, Canada.
Tracy L StockleyLaboratory Medicine Program, Division of Clinical Laboratory Genetics, University Health Network, Canada.ORCID https://orcid.org/0000-0002-4476-9722
Raymond H KimBhalwani Familial Cancer Clinic, Princess Margaret Cancer Centre, University Health Network, Canada.
Jeanna McCuaigDepartment of Molecular Genetics, University of Toronto, Canada.
Blaise ClarkeDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Canada.
Laura RanichLaboratory Medicine Program, Division of Clinical Laboratory Genetics, University Health Network, Canada.
Clare SheenLaboratory Medicine Program, Division of Clinical Laboratory Genetics, University Health Network, Canada.
Sarah E FergusonDivision of Gynecologic Oncology, University of Toronto, Canada.
Liat HogenDivision of Gynecologic Oncology, University of Toronto, Canada.
Taymaa MayDivision of Gynecologic Oncology, Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Dana Farber Cancer Institute, Harvard Medical School, Boston, USA.
Marcus Q BernardiniDivision of Gynecologic Oncology, University of Toronto, Canada.

Funding

Surgical Oncology Innovations in Translational and Basic Science Research Grant from University Health Network, University of Toronto
6 · The paper itself

Abstract

Genetic testing in epithelial ovarian cancer (EOC) in Ontario includes germline next-generation sequencing (NGS) for 19 genes. Additionally, tumor tissue undergoes reflex NGS testing for BRCA1/2 to assess eligibility for PARPi. Although parallel testing confers advantages, this model duplicates healthcare resources. Here, we prospectively assessed the feasibility of tumor-first multigene testing by comparing tumor tissue with germline testing of peripheral blood. An 18-gene NGS panel was used to test tumor and germline DNA (n = 106 patients). In 26 patients, 27 tumor Tier I or II variants were identified, with 16/27 (59%) being germline pathogenic variants (PV) (13 BRCA1/2; 3 other genes) and 11/27 (41%) somatic variants (9 BRCA1/2; 2 other). In 51/106 patients, there were no tumor variants (excluding TP53), of which one patient had a germline BRCA1 copy number variant deletion in exon 12. Tumor-first testing detected variant-positive and variant-negative germline cases in 105/106 patients (99.1%). Among 50 BRCA-negative patients, 14/50 (28%) were homologous recombination deficiency (HRD)-positive. Therefore, we demonstrate that multigene NGS tumor-testing is effective in identifying germline variants in EOC with a < 1% false-negative rate.

Indexed as

Carcinoma, Ovarian EpithelialGenetic TestingGerm-Line MutationHigh-Throughput Nucleotide SequencingOvarian NeoplasmsAdultAgedBRCA1 ProteinBRCA2 ProteinFemaleHumansMiddle AgedProspective StudiesBRCA1 ProteinBRCA2 Proteinepithelial ovarian cancermultigene tumor‐testingnext generation sequencing (NGS)paired testingsomatic testing

Identifiers

PMID41046341
PMCPMC13042983

What OpenQuestion holds

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LicenceCC BY
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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.