Focus of the discussion

After providing essential context on the complexity underlying genetic susceptibility to breast cancer, the talk will focus on BRCA gene testing as a paradigm example of precision medicine tool, touching upon challenges and roadblocks to the translation of the genetic information into meaningful clinical practice.

What you'll learn

The talk will highlight that: a) the power of germline genetic testing lies not only in generating data, but in how data are interpreted and communicated; b) coordinated efforts in an international setting are crucial to turn genetic insights into real-world impact.

Why this matters

This matters, because consistent interpretation and delivery of test results, grounded in shared knowledge, harmonised standards, expertly developed guidelines, strengthen risk awareness and facilitate well-informed decision-making, ultimately contributing to improved clinical outcomes and greater equity.

Future directions

My research aims at advancing understanding of genetic susceptibility to breast cancer in multiple diversified modes. Via a comprehensive and integrative approach, my group will address core issues in cancer genetics that extend to translational and clinical oncology, epidemiology, and public health.

Takeaway

The lesson gleaned from the BRCA genes is that active international collaboration, a multidisciplinary framework, and sustained engagement with varied stakeholders are prerequisite to harness the great potential of precision cancer medicine, translating promise into real benefit and transforming care at every stage of an individual’s journey.

Arcangela De Nicolo is an Italian physician scientist and a Professor of Clinical Medicine at Rīga Stradiņš University (RSU), in Riga. She received her M.D. summa cum laude from the University of Bari, her Ph.D. in Oncology and Surgical Oncology from the University of Padua, and her 2nd level Specialising Master in Cancer Genetics from the University of Pavia, Italy. With a research focus on breast cancer, she worked for more than ten years in Boston, MA, USA, where she trained as a Research Fellow in Genetics and held a full time Faculty academic appointment (Instructor in Medicine) at the Dana-Farber Cancer Institute and Harvard Medical School. Upon returning to Italy (as Investigator and Head of program section/Veneto Institute of Oncology IRCCS in Padua and then Coordinator of the Translational Genetics Research Area/IRCCS San Raffaele Scientific Institute in Milan), she moved to dry lab research and expanded her scientific horizon, exploring avenues to ease health data sharing across Europe for improved patient care.

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Exploiting her acquaintance with both clinical and research settings, Dr. De Nicolo designs and coordinates crosscutting studies that assess the significance of sequence variants in breast/ovarian cancer genes (particularly, BRCA1) and investigate genotype-phenotype relationships, aiming at informed clinical choices and tailored cancer prevention and care.

Dr. De Nicolo is active in international scientific societies and oncology networks and maintains collaborations in the United States, Australia, Asia, and various European countries. As Clinical Working Group Chair in the ENIGMA international consortium, she contributes to coordination of research tackling issues relevant to genetic testing and variant classification, reporting, and actionability. She also leads a global effort, involving researchers from 25 countries across four continents, in support of standardised communication and operational frameworks to ensure consistent delivery and proper clinical use of genetic test results.

Dr. De Nicolo has devoted substantial effort to teaching and mentoring students at different stages of their learning path. Within the framework of European Union-funded initiatives, she has contributed, also as an expert appointed by the Italian National Institute of Health, to educating health care professionals, cancer patients, and the general public on cancer genetics/genomics matters. Under the auspices of the Joint Action on Personalized Cancer Medicine, Dr. De Nicolo is currently engaged (also as a subtask lead) in several follow-ons aimed at addressing multiple educational needs through tailored interventions.

Learn more about Tenured Professor Arcangela De Nicolo