{
  "abstract": "Circulating tumor DNA (ctDNA) enables noninvasive tumor genotyping, yet its concordance with tissue remains unclear. Using a 437-gene panel in 1111 pan-cancer patients, we compared somatic variants between ctDNA and matched tissues. ctDNA detection sensitivity (61.5%) correlated with advanced stage (r = 0.955, p = 0.045) and tumor size (r = 0.955, p = 0.045). Actionable alterations were detected in 49.2% (ctDNA) and 77.1% (tissue) of patients. Both shared frequently mutated genes (TP53, APC, KRAS, LRP1B, PIK3CA) and pathways (RTK-RAS, p53, DNA repair). ctDNA-specific mutations were predominantly subclonal (61.5% vs. 9.7% in tissue-concordant variants) and less frequently drivers. Machine learning linked elevated concordance to progressive disease, liver metastasis, and larger tumors. ctDNA-positivity predicted worse prognosis (HR = 2.019, p < 0.001), exacerbated by subclonal enrichment. These findings underscore ctDNA’s capacity to reveal subclonality for risk stratification. While tissue remains superior for initial detection, ctDNA complements biopsies by capturing clonal heterogeneity.",
  "abstract_shown": true,
  "affiliations": [
    "Key laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Center for Molecular Diagnostics, Peking University Cancer Hospital & Institute, Beijing, China",
    "Geneseeq Research Institute, Nanjing Geneseeq Technology Inc, Nanjing, Jiangsu China",
    "State Key Laboratory of Holistic Integrative Management of Gastrointestinal Cancers, Center for Molecular Diagnostics, Peking University Cancer Hospital & Institute, Beijing, China"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 15,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Meng Zhang"
    },
    {
      "affs": [
        0
      ],
      "name": "Yi Feng"
    },
    {
      "affs": [
        0
      ],
      "name": "Xue Du"
    },
    {
      "affs": [
        0
      ],
      "name": "Changda Qu"
    },
    {
      "affs": [
        0
      ],
      "name": "Meizhu Meng"
    },
    {
      "affs": [
        0
      ],
      "name": "Meiying Ye"
    },
    {
      "affs": [
        0
      ],
      "name": "Min Liang"
    },
    {
      "affs": [
        0
      ],
      "name": "Ziran Yang"
    },
    {
      "affs": [
        0
      ],
      "name": "Wenjuan Gong"
    },
    {
      "affs": [
        0
      ],
      "name": "Xingyu Ma"
    },
    {
      "affs": [
        0
      ],
      "name": "Jialiang Guo"
    },
    {
      "affs": [
        0
      ],
      "name": "Wenmei Li"
    },
    {
      "affs": [
        1
      ],
      "name": "Sha Wang"
    },
    {
      "affs": [
        1
      ],
      "name": "Hua Bao"
    },
    {
      "affs": [
        2
      ],
      "name": "Shuqin Jia"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/5898fytfvhhy1.bib",
  "cited_by": 0,
  "doi": "10.1038/s41698-026-01549-0",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13710981/",
  "id": "5898fytfvhhy1",
  "issns": [
    "2397-768X"
  ],
  "landing_url": "https://doi.org/10.1038/s41698-026-01549-0",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Article"
    ],
    [
      "openalex",
      "1306|Cancer Genomics and Diagnostics"
    ]
  ],
  "openalex": "W7167255137",
  "pdf_url": "https://www.nature.com/articles/s41698-026-01549-0_reference.pdf",
  "pmcid": "PMC13710981",
  "pmid": "42399342",
  "published": "2026-07-03",
  "publisher": "Nature Publishing Group",
  "ris": "https://research.draconitic.com/paper/5898fytfvhhy1.ris",
  "sources": [
    {
      "first_seen": "2026-10-31T12:21:50Z",
      "native_id": "PMC13710981",
      "source": "pmc",
      "url": "https://doi.org/10.1038/s41698-026-01549-0"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:1306|Cancer Genomics and Diagnostics",
      "subfield": "oncology"
    }
  ],
  "title": "Pan-cancer analysis of tissue-plasma genomic concordance reveals enhanced concordance with liver metastasis and plasma clonality as predictor of poorer overall survival",
  "title_text": "Pan-cancer analysis of tissue-plasma genomic concordance reveals enhanced concordance with liver metastasis and plasma clonality as predictor of poorer overall survival",
  "type": "peer-reviewed",
  "updated_at": "2026-10-31T12:21:50Z",
  "url": "https://research.draconitic.com/paper/5898fytfvhhy1",
  "venue": "NPJ Precision Oncology",
  "versions": []
}