IPO Porto researchers develop innovative test to detect multiple cancers through blood analysis

Authors and Affiliations:

Tiago Brito-Rocha^1#, Vera Constâncio^1,2#, Pedro Leite-Silva³, Carina Carvalho-Maia^1,4, José Pedro Sequeira^1,2, Sofia Salta¹, João Lobo^1,4,9, Diana Inês Machado¹, Sandra P. Nunes¹, Rui Silva-Santos^1,4, Rui Freitas^1,5, Carlos Dias⁶, Cláudia Vieira⁷, Marta Soares^7,8, Rui Henrique^1,4,9, Carmen Jerónimo^1,9

Os autores gostariam de agradecer a todos os doentes e indivíduos saudáveis (controlos) pela doação de amostras para este estudo.

¹ Cancer Biology and Epigenetics Group, Research Center (CI-IPOP), Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Center Raquel Seruca (Porto.CCC), Porto, Portugal

² Doctoral Program in Biomedical Sciences, ICBAS-School of Medicine & Biomedical Sciences, University of Porto, Porto, Portugal

³ Cancer Epidemiology, Results, Economy and Management in Oncology Group, Research Center (CI-IPOP), Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Center Raquel Seruca (Porto.CCC), Porto, Portugal

⁴ Department of Pathology, Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Centre Raquel Seruca (Porto.CCC), Porto, Portugal

⁵ Urology Clinic, Portuguese Oncology Institute of Porto/Porto Comprehensive Cancer Centre Raquel Seruca (Porto.CCC), Porto, Portugal

⁶ Digestive Pathology Clinic, Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Centre Raquel Seruca (Porto.CCC), Porto, Portugal

⁷Department of Medical Oncology & Clinical Oncology Group, Research Center (CI-IPOP), Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Center Raquel Seruca (Porto.CCC), Porto, Portugal

⁸ Thoracic Pathology Clinic, Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Centre Raquel Seruca (Porto.CCC), Porto, Portugal

⁹ Department of Pathology and Molecular Immunology, ICBAS-School of Medicine & Biomedical Sciences, University of Porto, Porto, Portugal

#Co-first authors

Abstract:

Early cancer detection through minimally invasive methods is key for improving patient outcomes. We aimed to assess the performance of a novel blood-based test leveraging DNA methylation patterns for simultaneous detection of lung (LC), breast (BrC), colorectal (CRC), and prostate (PCa) cancer. Using The Cancer Genome Atlas (TCGA) methylation data, we identified shared hypermethylated gene promoters (ADCY4, MIR129-2, NID2, and MAGI2) among those four cancers. Validation was performed using online datasets, an in-house tissue set (N = 179), and plasma samples (N = 485) using droplet digital PCR (ddPCR). The test showed sensitivities of 81.82% (lung), 45% (breast), 69.23% (colorectal), and 44.14% (prostate), with 91.04% specificity. Overall, the PanCancer panel achieved 60.1% sensitivity and 87.4% specificity in detecting these four cancers. In early-stage cancers, sensitivities were slightly lower but followed a similar trend. Additionally, the test detected nine other cancer types in plasma. This proof-of-concept study demonstrates the feasibility of a single methylation-targeted blood test for multi-cancer detection, offering potential as an affordable and scalable screening tool for early cancer detection.

Journal: International Journal of Cancer

Link: https://onlinelibrary.wiley.com/doi/10.1002/ijc.35467