{"entity":{"id":"paper-bettegowda-ctdna-early-late-stage-stm-2014","kind":"paper","name":"Detection of circulating tumor DNA in early- and late-stage human malignancies","aka":[],"tldr":"Tumour DNA could be found in the blood of more than three quarters of people with many advanced cancers, but in fewer than half with brain, kidney, prostate or thyroid cancers, and less often when the cancer was localised.","summary":"Digital PCR-based methods were used to look for circulating tumour DNA in 640 patients with a range of cancers. It was detectable in more than 75 per cent of patients with advanced pancreatic, ovarian, colorectal, bladder, gastro-oesophageal, breast, melanoma, hepatocellular and head and neck cancers, but in less than 50 per cent with primary brain, renal, prostate or thyroid cancers. In localised disease it was detected in 73, 57, 48 and 50 per cent of patients with colorectal, gastro-oesophageal, pancreatic and breast cancer respectively. It was often present without detectable circulating tumour cells.\n\nIn 206 patients with metastatic colorectal cancer, plasma detected clinically relevant KRAS mutations with 87.2 per cent sensitivity and 99.2 per cent specificity. In 24 patients who responded to EGFR blockade and then relapsed, 23 (96 per cent) developed one or more mutations in MAPK pathway genes.","asOf":"2026-10-20","links":[{"label":"Bettegowda et al., Sci Transl Med 2014","url":"https://doi.org/10.1126/scitranslmed.3007094"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/24553385/"}],"tags":["precision"],"related":[],"cancers":[],"sections":["diagnostics"],"technologies":["liquid-biopsy"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["ctdna"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["science-translational-medicine"],"dependsOn":[],"notes":[],"journal":"Science Translational Medicine","year":2014,"doi":"10.1126/scitranslmed.3007094","pmid":"24553385","authors":"Bettegowda C, Sausen M, Leary RJ, et al.","paperType":"translational","findings":["Circulating tumour DNA detectable in more than 75 per cent of nine advanced cancer types and in fewer than 50 per cent of primary brain, renal, prostate and thyroid cancers.","Localised disease: 73 per cent colorectal, 57 per cent gastro-oesophageal, 48 per cent pancreatic, 50 per cent breast.","Plasma KRAS testing in 206 metastatic colorectal cancers: sensitivity 87.2 per cent, specificity 99.2 per cent."],"whatItMeans":"Which cancer a person has decides how much a blood test can see, and a negative plasma result means least in the cancers that shed least.","caveats":["Digital PCR of known mutations. A later sequencing study detected tumour DNA before surgery in 108 of 122 people with stage I to III colorectal cancer, 88.5 per cent (Reinert 2019), so these percentages depend on the assay.","Patients were not a random sample of each cancer."],"participants":640},"route":"/key-papers/paper-bettegowda-ctdna-early-late-stage-stm-2014/","neighbours":{"section":[{"id":"diagnostics","kind":"section","name":"Diagnostics & Biomarkers","route":"/fronts/diagnostics/"}],"technology":[{"id":"liquid-biopsy","kind":"technology","name":"Liquid biopsy (ctDNA)","route":"/technologies/liquid-biopsy/"}],"term":[{"id":"ctdna","kind":"term","name":"Circulating tumour DNA (ctDNA)","route":"/terms/ctdna/"}],"journal":[{"id":"science-translational-medicine","kind":"journal","name":"Science Translational Medicine","route":"/journals/science-translational-medicine/"}]}}