| Title: |
NON-INVASIVE BIOMARKERS IN BREAST CANCER EARLY DIAGNOSIS |
| Authors: |
DAMERI, MARTINA |
| Contributors: |
Dameri, Martina; ZOPPOLI, GABRIELE; NENCIONI, ALESSIO |
| Publisher Information: |
Università degli studi di Genova |
| Publication Year: |
2025 |
| Collection: |
Università degli Studi di Genova: CINECA IRIS |
| Subject Terms: |
liquid biopsy; breast cancer; cfDNA; epigenetic; proteomics; Settore MED/09 - Medicina Interna; Settore MEDS-05/A - Medicina interna |
| Description: |
Introduction: Breast cancer is the most commonly diagnosed malignancy among women worldwide and remains a leading cause of cancer-related death. Early detection plays a critical role in reducing mortality rates, improving prognosis and enhancing the effectiveness of therapeutic interventions. However, current screening strategies such as mammography and core needle biopsy (CNB) suffer from significant limitations, including reduced sensitivity in dense breast tissue, high false-positive rates and limited ability to characterize tumor biology at early stages. These limitations underscore the need for innovative, minimally invasive diagnostic tools. Liquid biopsy, which enables the analysis of tumor-derived biomarkers in body fluids, offers a promising alternative for early and accurate detection of malignancies. The integration of proteomic and epigenetic biomarkers derived from liquid biopsies could revolutionize early breast cancer diagnostics by improving precision and reducing reliance on invasive procedures. Methods: This work was conducted within the RENOVATE study, a prospective academic trial carried out at IRCCS Ospedale Policlinico San Martino (Genoa, Italy). Women presenting with suspicious breast lesions (BI-RADS 3–5, ≤2 cm) and healthy controls with negative mammograms were enrolled. Blood and urine samples were collected from all participants. Plasma and cfDNA were analyzed using a multi-omics approach combining high-throughput proteomic platforms (SomaScanTM, Olink®), ELISA validation assays and epigenomic profiling techniques including cfMeDIP-seq and Oxford Nanopore sequencing. The primary objective was to identify circulating biomarkers capable of distinguishing breast cancer from benign conditions. Results: Multi-omics analysis revealed distinct molecular profiles in cancer patients compared to those with benign lesions or healthy controls. Proteomic profiling identified significantly altered levels of specific circulating proteins, including HPGDS, which demonstrated strong discriminative ... |
| Document Type: |
doctoral or postdoctoral thesis |
| Language: |
English |
| Relation: |
https://hdl.handle.net/11567/1248921 |
| DOI: |
10.15167/dameri-martina_phd2025-05-29 |
| Availability: |
https://hdl.handle.net/11567/1248921; https://doi.org/10.15167/dameri-martina_phd2025-05-29 |
| Rights: |
info:eu-repo/semantics/openAccess |
| Accession Number: |
edsbas.C3743E3E |
| Database: |
BASE |