Evidence map›Paper›PMID 37802042›Full record

ReviewAmerican journal of human genetics2023

Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy.

Kirsten M Farncombe, Derek Wong, Maia L Norman, Leslie E Oldfield, Julia A Sobotka, Mark Basik, Yvonne Bombard, Victoria Carile, Lesa Dawson, William D Foulkes and 9 more

Registry-linked trialOpen access · hybridAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in American journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06726642 (CfDNA in Hereditary And High-risk Malignancies), which is not on this map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
3.8field-weighted citation impact, top 6% 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.

NCT06726642 recruitingnot on this mapstarted 2024, after this paper: background citation

CfDNA in Hereditary And High-risk Malignancies (CHARM) 2: Evaluating the Performance of a cfDNA Blood Test for Early Cancer Detection

TypeobservationalSponsorUniversity Health Network, TorontoRan2024 to 2031Enrolled1,000ConditionsHereditary Cancer SyndromeArmsCell-free DNA analysis
3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 16 citations in OpenAlex.

  1. Trial
  2. Review
  3. Review
  4. Pediatric Cancer Predisposition and Surveillance Update: Summary Perspective and Future Directions.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025
    Review
  5. Review
  6. Article
  7. Review
  8. Article
  9. 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

19 authors at 13 institutions in 1 country.

Kirsten M FarncombeToronto General Hospital Research Institute, University Health Network, Toronto, ON, Canada; Ontario Institute for Cancer Research, Toronto, ON, Canada.
Derek WongPrincess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.
Maia L NormanPrincess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.
Leslie E OldfieldPrincess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.
Julia A SobotkaPrincess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.
Mark BasikDepartment of Surgery, McGill University Medical School, Montreal, QC, Canada; Department of Oncology, McGill University Medical School, Montreal, QC, Canada.
Yvonne BombardInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada; Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Victoria CarileJewish General Hospital Stroll Cancer Prevention Centre, Montreal, QC, Canada.
Lesa DawsonMemorial University, St. John's, NL, Canada; Eastern Health Authority, St. John's, NL, Canada.
William D FoulkesJewish General Hospital Stroll Cancer Prevention Centre, Montreal, QC, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada.
David MalkinDivision of Hematology-Oncology, Hospital for Sick Children, Toronto, ON, Canada; Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada.
Aly KarsanBC Cancer, Vancouver, BC, Canada.
Patricia ParkinDepartment of Pediatrics, University of Toronto, Toronto, ON, Canada; Division of Pediatric Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
Lynette S PenneyDalhousie University, Halifax, NS, Canada.
Aaron PollettMount Sinai Hospital, Toronto, ON, Canada.
Kasmintan A SchraderBC Cancer, Vancouver, BC, Canada; University of British Columbia, Vancouver, BC, Canada.
Trevor J PughOntario Institute for Cancer Research, Toronto, ON, Canada; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada; Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada. Electronic address: trevor.pugh@utoronto.ca.
Raymond H KimOntario Institute for Cancer Research, Toronto, ON, Canada; Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, Sinai Health System, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Department of Medicine, University of Toronto, Toronto, ON, Canada. Electronic address: raymond.kim@uhn.ca.
CHARM consortium
Princess Margaret Cancer Centre · CAJewish General Hospital · CAUniversity of Toronto · CAUniversity Health Network · CADalhousie University · CAMcGill University · CAMemorial University of Newfoundland · CAMount Sinai Hospital · CAOntario Institute for Cancer Research · CAUniversity of British Columbia · CAHospital for Sick Children · CASt. Michael's Hospital · CAToronto General Hospital · CA

Funding

CIHR CIHR-159453
6 · The paper itself

Abstract

At least 5% of cancer diagnoses are attributed to a causal pathogenic or likely pathogenic germline genetic variant (hereditary cancer syndrome-HCS). These individuals are burdened with lifelong surveillance monitoring organs for a wide spectrum of cancers. This is associated with substantial uncertainty and anxiety in the time between screening tests and while the individuals are awaiting results. Cell-free DNA (cfDNA) sequencing has recently shown potential as a non-invasive strategy for monitoring cancer. There is an opportunity for high-yield cancer early detection in HCS. To assess clinical validity of cfDNA in individuals with HCS, representatives from eight genetics centers from across Canada founded the CHARM (cfDNA in Hereditary and High-Risk Malignancies) Consortium in 2017. In this perspective, we discuss operationalization of this consortium and early data emerging from the most common and well-characterized HCSs: hereditary breast and ovarian cancer, Lynch syndrome, Li-Fraumeni syndrome, and Neurofibromatosis type 1. We identify opportunities for the incorporation of cfDNA sequencing into surveillance protocols; these opportunities are backed by examples of earlier cancer detection efficacy in HCSs from the CHARM Consortium. We seek to establish a paradigm shift in early cancer surveillance in individuals with HCSs, away from highly centralized, regimented medical screening visits and toward more accessible, frequent, and proactive care for these high-risk individuals.

Indexed as

Cell-Free Nucleic AcidsNeoplastic Syndromes, HereditaryFemaleGenetic Predisposition to DiseaseGenetic TestingHumansLiquid BiopsyCell-Free Nucleic Acidscell-free DNAgenetic predispositionhereditary cancer syndromesliquid biopsysurveillance

Identifiers

PMID37802042
PMCPMC10577078
OpenAlexW4387376978

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

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.