Evidence map›Paper›PMID 41611967›Full record

Trial reportEuropean journal of human genetics : EJHG2026

Non-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM consortium.

Kirsten M Farncombe, Julia A Sobotka, Melyssa Aronson, Mark Basik, Yvonne Bombard, Leslie Born, Rona Cheifetz, Marc Clausen, Natalie Coburn, Lesa Dawson and 24 more

Abstract readRandomized Controlled TrialReview
PubMed Full text at PMC Publisher
In one paragraph

Trial report in European journal of human genetics : EJHG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

34 authors.

Kirsten M Farncombe *Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.ORCID http://orcid.org/0000-0001-9413-201X
Julia A Sobotka *Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.
Melyssa AronsonZane Cohen Centre for Digestive Diseases, Sinai Health, Toronto, ON, Canada.
Mark BasikDepartment of Surgery, McGill University Medical School, Montreal, QC, Canada.
Yvonne BombardInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.
Leslie BornPrincess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.ORCID http://orcid.org/0009-0009-8340-6770
Rona CheifetzBC Cancer, Vancouver, BC, Canada.
Marc ClausenGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Natalie CoburnICES, Toronto, ON, Canada.
Lesa DawsonDepartment of Obstetrics and Gynecology, University of British Columbia, Vancouver, BC, Canada.ORCID http://orcid.org/0000-0002-6879-6602
Andrea S DoriaDepartment of Diagnostic & Interventional Radiology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.
Khaled Y ElbannaDepartment of Medical Imaging, University of Toronto, Toronto, ON, Canada.ORCID http://orcid.org/0000-0001-6499-9261
Holly EtchegaryNLSUPPORT, Memorial University of Newfoundland, St. John's, NL, Canada.
William D FoulkesDepartment of Human Genetics, McGill University, Montreal, QC, Canada.ORCID http://orcid.org/0000-0001-7427-4651
Chiquita HesselsPrincess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.
Angela HydeDr. H. Bliss Murphy Cancer Center, St. John's, NL, Canada.
Karineh KazazianDepartment of Surgery, University of Toronto, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-9934-2443
Adam KinnairdDepartment of Surgery, University of Alberta, Edmonton, AB, Canada.
C Anne KochRadiation Medicine Program, Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.
Stephane LaframboiseDepartment of Obstetrics and Gynecology, University of Toronto, Toronto, ON, Canada.
Jordan Lerner-EllisLaboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
Stephanie LheureuxDivision of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network/Sinai Health System, Toronto, ON, Canada.
David MalkinDivision of Hematology-Oncology, Hospital for Sick Children, Toronto, ON, Canada.ORCID http://orcid.org/0000-0001-5752-9763
Ur MetserDepartment of Medical Imaging, University of Toronto, Toronto, ON, Canada.
Lynette S PenneyDalhousie University, Halifax, NS, Canada.
Sarah RiddPrincess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.ORCID http://orcid.org/0000-0001-9444-3803
Kasmintan A SchraderBC Cancer, Vancouver, BC, Canada.ORCID http://orcid.org/0000-0002-7413-4314
Teresa TianoPrincess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.
Alicia A ToneOvarian Cancer Canada, Toronto, ON, Canada.
Patrick Veit-HaibachDepartment of Medical Imaging, University of Toronto, Toronto, ON, Canada.
Stephanie WongThe Sir Mortimer B. Davis Jewish General Hospital, Montreal, QC, Canada.
Wei XuPrincess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.
Trevor J PughPrincess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada. Trevor.Pugh@utoronto.ca.ORCID http://orcid.org/0000-0002-8073-5888
Raymond H KimDivision of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network/Sinai Health System, Toronto, ON, Canada. Raymond.Kim@uhn.ca.ORCID http://orcid.org/0000-0002-2147-8674

Funding

Children's Tumor Foundation (CTF) 2018-10-002Gouvernement du Canada | Canadian Institutes of Health Research (Instituts de Recherche en Santé du Canada) CIHR-159453
6 · The paper itself

Abstract

Individuals with hereditary cancer syndromes are born with germline genetic variants that significantly increase their lifetime risk of developing multiple cancers. Cancer rates and overall mortality can be reduced with intensive surveillance to facilitate early cancer detection. However, participating in diagnostic imaging and endoscopy surveillance programs is often time-consuming, overwhelming, inconvenient, and anxiety-inducing. To improve this, multi-cancer early detection tests are being developed using cell-free DNA (cfDNA) sequencing analysis to detect cancers with more sensitivity than conventional screening methods. Our community (the CHARM consortium: Cell-free DNA in Hereditary And high-Risk Malignancies) has been exploring the use of cfDNA sequencing in hereditary cancer, and has launched the CHARM2 prospective randomized controlled trial, which is enrolling 1000 participants with Hereditary Breast and Ovarian Cancer, Lynch syndrome, Li-Fraumeni syndrome, Neurofibromatosis type 1 and Hereditary Diffuse Gastric Cancer to improve equitable access, early detection and surveillance for high-risk individuals. All participants will have screening as per conventional syndrome-specific surveillance recommendations. Half the participants (experimental cohort) will also have cfDNA analysis at least three times a year, with abnormal results triggering dedicated clinical imaging and diagnostic evaluation, and heightened surveillance. Vetted by our patient advisors, validated patient-reported outcome and experience measures assessing participant psychosocial outcomes, engagement, and test preferences will be administered to both arms. Our goal is to inform if and how cfDNA analysis could be implemented into routine clinical care and offer a path to equitable and more convenient cancer screening for all high-risk Canadians.

Indexed as

Cell-Free Nucleic AcidsEarly Detection of CancerGenetic TestingNeoplastic Syndromes, HereditaryColorectal Neoplasms, Hereditary NonpolyposisFemaleHumansMaleCell-Free Nucleic Acids

Identifiers

PMID41611967
PMCPMC13550592

What OpenQuestion holds

Textmetadata
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.