Naples, Italy, October 24, 2025 — Breast cancer remains one of the most common cancers worldwide, and in Italy, it is the most frequent malignancy among women with approximately 55,000 new diagnoses annually. While lifestyle and environmental factors often play significant roles in cancer development, a critical portion—at least 10% of breast cancer cases in the country—is hereditary in origin, according to Dr. Beatrice Salvatori, Scientist and Project Manager at Negedia.
“At its core, cancer is genetic,” said Dr. Salvatori, whose work at Negedia is expanding access to hereditary breast cancer testing across Italy. “Aside from environmental triggers such as UV, processed food, chemicals and smoking, inherited variants in genes involved in DNA repair can also cause additional mutations, especially mutations that favor uncontrolled proliferation and could lead to tumor formation – and breast cancer, especially early-onset breast cancer, is a clear example of that.”
Among these cancer predisposition genes, BRCA1 and BRCA2 are the most widely known and clinically actionable ones. They are also the routine genes used by most clinicians to test for hereditary cancer risk as genetic screening in oncology continues to gain prevalence. Yet, as Dr. Salvatori underscored, the story does not end there.
“Beyond BRCA1 and BRCA2, humans carry around 20,000 genes — while not all are relevant, roughly 100 to 150 are known to be linked to hereditary cancers,” she emphasized. “Specific to breast and ovarian cancer, we can shrink this number and focus on three additional ones – CHEK2, PALB2 and ATM. They have been found in 2% of hereditary tumours, representing an important number of people whose risk factors could be identified and tumour symptoms prevented.”
Recognizing the importance of comprehensive testing, Negedia together with the Italian charity Fondazione Telethon have partnered with MGI to develop a cutting-edge panel covering these top five genes associated with hereditary forms of breast and ovarian cancer. Powered by next-generation sequencing, the panel sequences entire exons—the protein-coding portions of genes—as well as untranslated, splicing, and regulatory regions, capturing nearly all known pathogenic variants.
“We don’t just focus on known mutation hotspots; we sequence the complete gene frames to obtain a full genetic picture,” she noted. “By adopting a broader, clinically relevant approach, our goal is early identification of mutation carriers to guide personalized prevention and monitoring strategies, enabling interventions before symptoms even arise.”
Using MGI’s DNBSEQ-T7 ultra-high-throughput sequencer, Dr. Salvatori and her team are able to leverage the platform’s exceptionally low duplication rates and high accuracy – essential for detecting single nucleotide changes – in their research and clinical work. In addition, the T7’s capability to sequence multiple samples simultaneously reduces costs and turnaround time, making genetic testing feasible for large populations.
“Quality and precision are at the heart of every process at Negedia,” she added. “Backed by the high-quality technology and tools from MGI, they have been able to accurately sequence challenging regions rich in GC content and deliver data quality that allows confident variant interpretation, thereby empowering breast cancer patients to make informed decisions about prevention and care with reduced uncertainty and improved clinical decision-making,” said Dr. Javier Batista Perez, a DCS Specialist at MGI Tech.
While imaging-based screening remains vital, its effectiveness depends on timing—often after cancer has developed. This is where genetics can change the game.
Italy’s public healthcare system has historically focused on mammography screening, which is offered to women starting from age 50 to 69 free of charge biennially and has demonstrably reduced breast cancer mortality by about 30%. Dr. Salvatori, however, has been advocating complementing this with population genetic testing as a step forward in cancer prevention.
“Genetic testing should come first. If you are found to be at higher risk, the difference is that you don’t wait until 50 to start mammograms. You begin screening earlier in life and more frequently. Therefore, instead of waiting for symptoms to appear, this knowledge is enabling you to go for tailored monitoring and adopt proactive, precision-based prevention.”
Building on ongoing clinical studies on these five genes involved in hereditary cancer conducted by Fondazione Telethon, the team at Negedia aims to promote and translate locally and globally the benefits of broad genetic screening, ultimately guiding the next generation of doctors and clinicians closer towards precision medicine through next-generation sequencing.
“What we’re providing here is a new tool for improved prevention and management of breast cancer,” said Dr. Salvatori. “And the beauty is that it is not only limited to very high-throughput technology. The gene panel tests can also be effectively implemented in a variety of clinical settings with smaller sequencers. This flexibility makes genetic testing more affordable and accessible, shifting breast cancer prevention from a relatively reactive process to a proactive strategy rooted in precision medicine.”
