Understanding the new link between genetics and cancer risk
A major UK study led by researchers at King’s College London has revealed a potential game changer in breast cancer care: a genetic risk score may help predict which women with pre‑invasive breast cells are more likely to develop invasive breast cancer. Published in Cancer Epidemiology, Biomarkers & Prevention and funded by Breast Cancer Now, the research followed more than 2,000 women in the United Kingdom who had already undergone testing for 313 genetic changes. These women initially had ductal carcinoma in situ (DCIS) or lobular carcinoma in situ (LCIS) — conditions characterized by abnormal cells in breast tissue that have not invaded surrounding tissue.
What is a genetic risk score?
A genetic risk score estimates a person’s inherited likelihood of developing a disease by combining the effects of multiple common genetic variants. By integrating these tiny differences into a single score, scientists can quantify baseline risk and, in this study, assess how that risk interacts with DCIS or LCIS to influence progression toward invasive cancer.
From pre‑invasive cells to invasive disease: the potential impact
Current screening programs in the NHS offer breast screening every three years for most women aged 50–71. Yet, when abnormal cells are found, clinicians face a difficult choice: some patients will never develop invasive cancer, while others will. The new findings suggest that adding a genetic risk score to the existing assessment could help identify those at higher risk of progression. In practical terms, this could help tailor treatment decisions — ranging from heightened surveillance to surgical intervention or systemic therapy — to the individual’s true risk profile rather than applying a one‑size‑fits‑all approach.
Why this matters for patients and the NHS
Breast cancer remains the most common cancer in women in the UK, with around 55,000 new cases each year. Early detection remains crucial, but so does avoiding overtreatment. The study’s co‑authors emphasize that a genetic risk score could refine how clinicians discuss recurrence risk and treatment options with patients diagnosed with DCIS or LCIS, potentially reducing unnecessary procedures while ensuring high‑risk individuals receive appropriate care. Jasmine Timbres, the study’s lead author, noted that predicting who will develop invasive cancer is vital for offering the best possible treatment choices and for minimizing physical and emotional burdens associated with overtreatment.
Clinical implications and next steps
Professor Elinor Sawyer of King’s College London explains that the work complements traditional pathology. Instead of focusing solely on how cells appear under the microscope, clinicians could consider a person’s genetic risk alongside lifestyle factors to paint a full picture of recurrence risk. Dr. Simon Vincent of Breast Cancer Now cautions that while these initial findings are promising, more research is needed before genetic risk scoring becomes routine in clinical practice. The study represents a step toward more personalized care, where treatment decisions reflect an individual’s overall risk profile, not just cellular appearance.
What this could mean for patients in the near future
In the coming years, genetic risk scoring might be integrated into shared decision‑making conversations between patients and clinicians. For women with DCIS or LCIS, knowing their genetic risk could clarify whether to pursue aggressive interventions or to opt for careful observation with regular monitoring. The ultimate goal is to improve quality of life and wellbeing by aligning treatment intensity with an accurate assessment of future risk.
Bottom line
As the researchers continue to validate their findings, the concept of genetic risk scoring offers hope for more personalized management of pre‑invasive breast conditions. By combining genetic insights with traditional pathology, clinicians may soon be able to forecast who is most likely to develop invasive breast cancer and tailor care accordingly.
