Breast carcinoma represents the most common neoplastic condition in women and one of the leading causes of cancer-related death in Italy (approximately 55,700 new diagnoses of breast cancer in 2022 among women, +0.5% compared to 2020). The cost of NGS (Next-Generation Sequencing) methods limits access to early cancer diagnosis.

The ORIENTA project aims to develop and clinically validate an innovative low-cost NGS process for breast cancer diagnosis through molecular characterization. Starting from the CUTSeq method, developed by Candiolo FPO-IRCCS, an innovative protocol will be developed to identify the HER2 gene copy number, which will then be clinically validated in a study on predictive factors for treatment response in breast cancer. This will involve the use and evaluation of non-carcinogenic fixatives developed by ADDAX, as alternatives to the commonly used formalin.

In parallel, ARROW will lay the groundwork for the development of a commercially viable diagnostic kit, accompanied by dedicated software developed by SMARTSEQ for bioinformatic analysis and clinical interpretation of results. The project’s outcomes will pave the way for the development and commercialization of a low-cost NGS-based diagnostic kit, enabling broader access to personalized breast cancer treatment. Additionally, it will promote the use of non-carcinogenic histological fixatives in NGS diagnostics, offering significant benefits for worker health and reducing environmental impact.

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