Politecnico di Torino - Corso Duca degli Abruzzi, 24 - 10129 Torino, ITALY

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Biliary tract cancersCancer early diagnosisDNA methylation alterationEpigenetic biomarkerOncologic patients follow-up


The current diagnostic and follow-up strategy for patients with biliary tumors includes a complex, invasive combination of clinical, radiological, biochemical and histological approaches with limited specificity and sensitivity. The patented method is related to the unveiling of a biomarker, DNA methylation alteration, which has demonstrated 100% sensitivity and specificity.

Technical features

The present invention refers to a method – implemented in vitro – for the diagnosis and/or prognosis, preferably at an early stage, of benign or malignant neoplasms of the biliary tract. The method according to the invention is based on the selection and measurement of the hypermethylation levels of a genetic locus in nucleic acid samples extracted from minimally and/or non-invasive tumor tissues and matrices from patients affected by biliary tract cancer and relative comparison of said levels with the levels of the same marker in non-tumor samples. Furthermore, the present invention also refers to a kit for implementing the above method.

Possible Applications

  • Screening of high-risk individuals as a prevention tool;
  • Early diagnosis;
  • Patient monitoring during post-operative/post-treatment follow-up;
  • Track any minimal residual disease, recurrences or metastases.


  • Very stable DNA alterations of easy and robust traceability;
  • Method usable on minimally or non-invasive matrices;
  • Assay adaptable to the techniques used in any hospital/healthcare establishment;
  • Small amounts of input DNA required;
  • Large-scale and low cost applicability.