Evidence map›Paper›PMID 40299319›Full record

ArticleCancer discovery2025

Detection of Brain Cancer Using Genome-wide Cell-free DNA Fragmentomes.

Dimitrios Mathios, Noushin Niknafs, Akshaya V Annapragada, Ernest J Bobeff, Elaine J Chiao, Kavya Boyapati, Keerti Boyapati, Sarah Short, Adrianna L Bartolomucci, Stephen Cristiano and 20 more

Abstract read
In one paragraph

Article in Cancer discovery, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

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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

30 authors.

Dimitrios Mathios *Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0002-0792-6880
Noushin Niknafs *Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0002-4852-3674
Akshaya V AnnapragadaSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0002-9097-6511
Ernest J BobeffDepartment of Neurosurgery and Neurooncology, Medical University of Lodz, Barlicki University Hospital, Lodz, Poland.ORCID 0000-0003-1891-3791
Elaine J ChiaoSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0002-2275-9080
Kavya BoyapatiSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0002-1731-7480
Keerti BoyapatiSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0009-0009-3769-5452
Sarah ShortSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0003-2319-6360
Adrianna L BartolomucciSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0009-0008-1982-708X
Stephen CristianoSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0002-7375-2364
Shashikant KoulSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0002-9690-7349
Nicholas A VulpescuSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0003-1310-0257
Leonardo FerreiraSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0002-2468-2689
Jamie E MedinaSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0002-6124-0548
Daniel C BruhmSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0002-8436-501X
Vilmos AdleffSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0002-5001-1766
Małgorzata PodstawkaDepartment of Neurosurgery and Neurooncology, Medical University of Lodz, Barlicki University Hospital, Lodz, Poland.ORCID 0009-0009-7492-4728
Patrycja StanisławskaDepartment of Neurosurgery and Neurooncology, Medical University of Lodz, Barlicki University Hospital, Lodz, Poland.ORCID 0000-0002-0360-2520
Chul-Kee ParkDepartment of Neurosurgery, Seoul National University College of Medicine, Seoul, Korea.ORCID 0000-0002-2350-9876
Judy HuangDepartment of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0002-0675-1935
Gary L GalliaDepartment of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0001-6438-7329
Henry BremDepartment of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0001-7539-4786
Debraj MukherjeeDepartment of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0002-5403-8237
Justin M CaplanDepartment of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0002-0289-3661
Jon WeingartDepartment of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0009-0008-8931-7456
Christopher M JacksonDepartment of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0002-5958-2004
Michael LimDepartment of Neurosurgery, Stanford University, Palo Alto, California.ORCID 0000-0003-0523-3076
Jillian PhallenSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0002-5492-9013
Robert B ScharpfSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0003-4702-2656
Victor E VelculescuSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0003-1195-438X

Funding

Translational Research Central ServicesP30CA006973 · NCI · JOHNS HOPKINS UNIVERSITY · PI Rosalie Wollett · 1985 to 2026
$208.6M
Tumor Antigens for Individual Signatures and TherapyP50CA062924 · NCI · JOHNS HOPKINS UNIVERSITY · PI LENNON, ANNE MARIE · 1993 to 2022
$54.6M
Medical Scientist Training ProgramT32GM136577 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI ANDREA L COX · 2020 to 2026
$13.4M
ECOG-ACRIN Thoracic Malignancies Integrated Translational Science CenterUG1CA233259 · NCI · EMORY UNIVERSITY · PI CARBONE, DAVID P., LEAL, TICIANA · 2019 to 2025
$5.1M
Large-Scale Genetic Analyses of Human CancerR01CA121113 · NCI · JOHNS HOPKINS UNIVERSITY · PI ANAGNOSTOU, VALSAMO, VELCULESCU, VICTOR E. · 2006 to 2022
$4.3M
DNA evaluation of fragments for early interception (DELFI) of Lung cancerU01CA271896 · NCI · JOHNS HOPKINS UNIVERSITY · PI DAVID SIDRANSKY, Victor E. Velculescu · 2023 to 2026
$3.8M
Predoctoral Training Program in Human GeneticsT32GM148383 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI Kimberly F Doheny, ANDREW S MCCALLION · 2023 to 2026
$2.4M
Genome-wide approaches to non-invasive screening and characterization of ovarian cancersF30CA294612 · NCI · JOHNS HOPKINS UNIVERSITY · PI Akshaya Vijaya Annapragada · 2024 to 2026
$164k
American Association for Cancer Research (AACR) 20-40-31-MATTCenter for Cancer Research (CCR) 1T32GM136577Center for Cancer Research (CCR) CA006973Center for Cancer Research (CCR) CA062924Center for Cancer Research (CCR) CA121113Center for Cancer Research (CCR) CA233259Center for Cancer Research (CCR) CA271896Center for Cancer Research (CCR) T32GM148383Cole Foundation (CF)Commonwealth Foundation for Cancer Research FoundationConquer Cancer Foundation (CCF)Dr. Miriam and Sheldon G. Adelson Medical Research Foundation (AMRF)Gray FoundationMark Foundation For Cancer Research (The Mark Foundation for Cancer Research)NCI NIH HHS F30 CA294612NCI NIH HHS P30 CA006973NCI NIH HHS P50 CA062924NCI NIH HHS R01 CA121113NCI NIH HHS U01 CA271896NCI NIH HHS UG1 CA233259NIGMS NIH HHS T32 GM136577NIGMS NIH HHS T32 GM148383
6 · The paper itself

Abstract

Diagnostic delays in patients with brain cancer are common and can impact patient outcome. Development of a blood-based assay for detection of brain cancers could accelerate brain cancer diagnosis. In this study, we analyzed genome-wide cell-free (cfDNA) fragmentomes, including fragmentation profiles and repeat landscapes, from the plasma of individuals with (n = 148) or without (n = 357) brain cancer. Machine learning analyses of cfDNA fragmentome features detected brain cancer across all-grade gliomas (AUC = 0.90; 95% confidence interval, 0.87-0.93), and these results were validated in an independent prospectively collected cohort. cfDNA fragmentome changes in patients with gliomas represented a combination of fragmentation profiles from glioma cells and altered white blood cell populations in the circulation. These analyses reveal the properties of cfDNA in patients with brain cancer and open new avenues for noninvasive detection of these individuals. SIGNIFICANCE: Brain cancer is one of the deadliest and most challenging cancers to detect with liquid biopsy approaches in blood, hampering efforts for earlier noninvasive diagnosis. We have developed a machine learning genome-wide cfDNA fragmentation method that provides a sensitive and accessible approach for brain cancer detection.

Indexed as

Biomarkers, TumorBrain NeoplasmsCell-Free Nucleic AcidsGliomaAgedFemaleHumansMachine LearningMaleMiddle AgedBiomarkers, TumorCell-Free Nucleic Acids

Identifiers

PMID40299319
PMCPMC12319403

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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.