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Reading chemical tags on DNA that reveal a cell's identity, used to classify brain tumours and to detect cancer in blood.
DNA methylation profiling reads the chemical marks on cytosines that record a cell's identity, using bisulfite or enzymatic conversion followed by arrays or sequencing, with classifiers trained on reference cohorts. The Heidelberg/DKFZ methylation classifier is standard for CNS tumour diagnosis (WHO 2021) because methylation retains cell-of-origin memory even when histology is ambiguous. Methylation in cfDNA underlies Galleri and tissue-of-origin prediction, since it is a stable analyte in blood. Nanopore sequencing gives intraoperative methylation classification in under an hour, allowing the surgical plan to change during the operation. The main limitation is dependence on the reference cohort, so rare or under-represented tumour types can be misclassified. The simple version is that methylation is a cell's identity badge, readable in tissue or blood.
Bisulfite or enzymatic conversion, arrays or sequencing; classifiers trained on reference cohorts.
Nothing recorded yet: a foundation, or a gap to fill.
Dependencies are what this technology cannot be delivered without: manufacturing steps, instruments, software, upstream methods. See its full chain on the map.
Exact Sciences' multi-cancer blood test, sold since 2025 as a lab test that has not been through FDA approval.
A home stool test done every three years that looks for cancer DNA and hidden blood; a positive result means you need a colonoscopy.
The updated Cologuard, approved in 2024, which keeps the high cancer detection rate while causing fewer false alarms.
A blood test screening for more than 50 cancers at once, before the FDA in September 2026.
A blood test for leftover cancer after surgery that needs no tumour sample, so results come faster than tumour-informed tests.
The second FDA-approved blood test for bowel cancer screening, from Freenome, sold by Abbott from late 2026.
The current honest statement of where early detection stands: no blood test is ready, and the research is about finding the threshold at which to operate.
For someone offered the test, these are the numbers that describe what a result means in an NHS population: about 1 in 100 tests came back positive each year, between 46 and 58 in 100 positives were cancer, and a negative result left about 1 in 100 with an undetected cancer within the year. The test found between a quarter and a third of all cancers diagnosed in a screening round, and about half to two thirds of the 12 cancer types it was designed to find. Whether finding them this way reduces late-stage diagnoses is the primary question, and this paper says only that the answer was no; the primary-endpoint paper had not appeared on Europe PMC by 23 September 2026.
A multi-cancer blood test can be run in ordinary clinics, and most positive results can be resolved with imaging. But six in ten positives are false alarms that take months to resolve, and the test misses most cancers. Whether it reduces late-stage cancer or deaths is unknown; that requires randomised trials.
It is the right shape of answer for a transition that is epigenetic rather than genetic, and it could in principle spare the biopsy that is currently the only way to make this diagnosis.
Methylation-based screening is real but weakest exactly where pancreatic cancer needs it, at stage I, which is why high-risk surveillance rather than population screening carries the field here.
Cancers are defined as much by the tissue they come from as by the mutations they carry, which is why the same drug can work in one organ and fail in another with the same mutation. TCGA is the shared public dataset behind most modern biomarkers and target discovery.
Treatment-emergent neuroendocrine prostate cancer is understood as lineage plasticity under androgen receptor blockade; EZH2, DLL3 and Aurora kinase are the targets under investigation.
It is the reference table the field still argues against, and it made two practical points that outlived it: a tumour with no driver on a standard panel usually has one that the panel did not look for, and pathway activity measured on protein does not follow from the mutation list.
Query for this technology: (TITLE:"DNA methylation" OR ABSTRACT:"DNA methylation" OR TITLE:"methylation classifier" OR ABSTRACT:"methylation classifier" OR TITLE:"cfDNA methylation" OR ABSTRACT:"cfDNA methylation") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about DNA methylation profiling, not a curated reading list.
Shares Harbinger Health, A urine DNA test to decide who with blood in the urine needs a camera test, Cancerguard, CCGA: the Circulating Cell-free Genome Atlas behind the Galleri methylation test.
Shares Track clones in blood with methylation patterns instead of mutations, Pre-agreed update rules so an MCED test is not obsolete when its trial reads out, Clinical validation of a targeted methylation-based multi-cancer early detection test using an independent validation set, Prince of Wales Hospital / Chinese University of Hong Kong.
Shares BLUE-C, DeeP-C, Cancerguard, Cologuard Plus.
Shares Cancerguard, Cologuard Plus, SimpleScreen CRC, Freenome.
Shares Universal DX, ClearNote Health, Helio Genomics, Match each blood-detected clone to the lesion it comes from on the scan.
Shares BLUE-C, DeeP-C, PREEMPT CRC, Cologuard Plus.
Shares CCGA: the Circulating Cell-free Genome Atlas behind the Galleri methylation test, PREEMPT CRC, Clinical validation of a targeted methylation-based multi-cancer early detection test using an independent validation set, Detecting neuroendocrine prostate cancer through tissue-informed cell-free DNA methylation analysis.
Shares Non-endoscopic screening for Barrett's oesophagus and early adenocarcinoma, CCGA: the Circulating Cell-free Genome Atlas behind the Galleri methylation test, Molecular indolence classifiers bundled with every screening programme, PATHFINDER: the first prospective test of a multi-cancer blood test in people without symptoms.
Open-source projects that implement or serve this technology, from OnCo's own catalogue: licence and last activity as the repository reported them on the day of the fetch. Listing is not endorsement; check the licence before reuse and the validation before clinical use.
The published training code for the Heidelberg DNA methylation-based classification of central nervous system tumours.
Copy-number analysis from DNA methylation arrays, the companion tool of the brain tumour methylation classifier.
Open-source software, hardware and data projects catalogued by a third party, the Open Medical Registry, that bear on this technology. Listing is not endorsement; check each project's own licence and validation before clinical use.
EpiMethEx (Epigenetic Methylation and Expression), a R package to perform a large-scale integrated analysis by cyclic correlation analyses between...
From the Open Medical Registry (openmedical.sh), an MIT-licensed catalogue of open-source medicine. Blurbs are one line from each registry record; every project keeps its own licence.