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Record W4408532674 · doi:10.1016/j.gimo.2025.102035

O10: Early detection of BRCA1/2-associated cancers through multi-modal cell-free DNA analysis

2025· article· en· W4408532674 on OpenAlex
Erik Ensminger, Ping Luo, Derek Wong, Julia A. Sobotka, Leslie E. Oldfield, Kirsten M. Farncombe, Adriana Aguilar‐Mahecha, Jenna Eagles, Helia Purnaghshband, Stephanie Pederson, Lawrence E. Heisler, Bernard Lam, Mark Basik, Trevor J. Pugh, Raymond H. Kim

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueGenetics in Medicine Open · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer Genomics and Diagnostics
Canadian institutionsPrincess Margaret Cancer CentreOntario Institute for Cancer ResearchJewish General HospitalUniversity of Toronto
Fundersnot available
KeywordsDNAModalCancer researchCell-free fetal DNAComputational biologyBiologyGeneticsChemistry

Abstract

fetched live from OpenAlex

Cell-free DNA (cfDNA) fragments are released by a variety of types of cells in the body into the blood (eg, healthy, placental, and cancer cells). Genetic and epigenetic analysis of cfDNA can be used to differentiate cfDNA tissue-of-origin for the early detection of cancer but has not been applied to BRCA1/2 heterozygotes. People who harbor a BRCA1/2 pathogenic variant are at high risk of developing breast, ovarian, prostate, pancreas cancer, and other types of cancer. Early detection in BRCA1/2 carriers includes intensive surveillance with breast imaging and prostate-specific antigen (PSA) test for prostate cancer.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.165
Threshold uncertainty score0.999

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.001
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.016
GPT teacher head0.309
Teacher spread0.294 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it