This interview, also available in full within the DNA Today podcast, explores how genomics is revolutionizing cancer prevention in Italy.
Dr. Beatrice Salvatori, Scientist and Project Manager at Negedia, explains how the integration of genetic research, next-generation sequencing technologies, and collaboration with Fondazione Telethon is paving the way for a more proactive, personalized, and accessible approach to breast cancer prevention.
From reactive to proactive: changing the course of breast cancer prevention and care in Italy
Breast cancer remains one of the most common cancers worldwide and, in Italy, it is the most frequent malignancy among women, with about 55,000 new diagnoses each year. While lifestyle and environmental factors often play a significant role in cancer development, a critical portion (at least 10% of breast cancer cases in the country) is hereditary in origin.
Dr. Salvatori explains:
“Cancer is a genetic disease,” said Dr. Salvatori, whose work at Negedia aims to expand access to hereditary breast cancer testing across Italy.
“Beyond environmental triggers such as UV rays, processed food, chemicals, and smoking, inherited variants in genes involved in DNA repair can cause further mutations in other crucial genes that regulate cell proliferation. Breast cancer, especially early-onset breast cancer, is a clear example of this.”
Predisposition genes and genetic screening
Among these cancer predisposition genes, BRCA1 and BRCA2 are the best known and clinically relevant. They are also the reference genes most clinicians use to test hereditary cancer risk as genetic screening in oncology becomes increasingly widespread. Yet, as Dr. Salvatori points out, the story doesn’t end there.
“We have another 20,000 genes, and although not all are relevant, about 100–150 are known to be associated with hereditary forms of tumors,” she emphasized.
“Specifically for breast and ovarian cancer, we can narrow this number down and focus on three more (CHEK2, PALB2, and ATM). They have been found in 2% of hereditary tumors, representing an important number of people whose risk factors could be identified and whose tumor symptoms could be prevented.”
A next-generation genetic panel
Recognizing the importance of comprehensive testing, Negedia, together with Fondazione Telethon, partnered with MGI to develop a cutting-edge panel covering the five main genes associated with hereditary forms of breast and ovarian cancer. Based on next-generation sequencing (NGS), the panel sequences full exons (the protein-coding regions 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 to obtain a full genetic picture,” she noted.
“By embracing a broader, clinically relevant scope, our goal is the early identification of mutation carriers to guide personalized prevention and monitoring strategies, enabling interventions before symptoms even arise.”
MGI technologies for high-precision genomics
Using MGI’s DNBSEQ-T7 ultra-high-throughput sequencer, Dr. Salvatori and her team leverage the platform’s very low duplication rates and high accuracy, essential for detecting single-nucleotide variants, in both their research and clinical work. Moreover, the T7’s ability 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,” added Dr. Salvatori.
Proactive prevention and public healthcare
Historically, the Italian public healthcare system has focused on mammography screening, offered free of charge every two years to women aged 50 to 69, which has reduced breast cancer mortality by about 30%.
However, Dr. Salvatori has long advocated complementing this approach with population-level genetic testing as a further 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 you’re 50 to start mammograms. You begin screening earlier in life and more frequently. Therefore, instead of waiting for symptoms to appear, this knowledge enables you to adopt targeted monitoring and proactive, precision-based prevention.”
Toward precision medicine
Building on ongoing clinical studies on these five genes involved in hereditary cancer, conducted by Fondazione Telethon, the Negedia team aims to promote and translate the benefits of broad genetic screening both locally and globally, guiding the next generation of doctors and clinicians closer to precision medicine through next-generation sequencing technologies.
“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’s not limited to ultra-high-throughput technology. 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.”
