Genetic Risk Scores Could Help Predict Invasive Breast Cancer After Abnormal Cells Detected

A groundbreaking study from King’s College London has provided new insights into predicting which women with abnormal breast tissue are more likely to develop invasive breast cancer. For the first time, researchers have demonstrated a clear link between a person’s genetic risk score and the likelihood of invasive disease following the detection of ductal carcinoma in situ (DCIS) or lobular carcinoma in situ (LCIS), the two most common types of abnormal cells in breast tissue.

The study, funded by Breast Cancer Now and published in Cancer Epidemiology, Biomarkers & Prevention, analyzed genetic data from over 2,000 women in the UK. These participants were tested for 313 genetic variations that, when combined, formed an individual’s genetic risk score. This score is designed to estimate a person’s inherited risk of developing breast cancer by analyzing the influence of multiple genetic variants.

Currently, when abnormal cells are found through screening programs such as the NHS Breast Screening Programme—which routinely invites women aged 50 to 71 every three years—doctors face uncertainty in predicting which cases will progress to invasive breast cancer. As a result, many women are offered treatments ranging from regular monitoring to surgery, radiotherapy, or hormone therapies, even though not all will go on to develop cancer.

With breast cancer being the most common cancer among women in the UK, affecting around 55,000 women annually, early diagnosis and personalized risk assessment are essential. The research suggests that integrating genetic risk scores into clinical practice could help doctors distinguish between women at high risk and those unlikely to develop invasive disease, leading to more tailored care.

Jasmine Timbres, first author and Clinical Information Analyst at King’s College London, emphasized the importance of this finding: “Our initial results are very promising. Predicting who is most likely to develop invasive breast cancer is vital to offering the best possible treatment options for women. By using genetic risk scores, treatments could be more personalized, sparing some women from unnecessary invasive therapies while ensuring those at higher risk receive timely interventions.”

Professor Elinor Sawyer, senior author and Consultant Clinical Oncologist at King’s College London, added: “Until now, decisions have largely been based on how cells look under a microscope. Our research shows that combining this with genetic risk scores and lifestyle factors can give a much clearer picture of a woman’s individual risk. This allows women to make more informed choices about treatment, tailored to their unique situation.”

Dr. Simon Vincent, chief scientific officer at Breast Cancer Now, highlighted the broader impact of the study: “These findings show promise for paving the way to more personalized treatment decisions. Understanding which women are most likely to develop invasive breast cancer after being diagnosed with DCIS or LCIS could reduce unnecessary treatment and help focus resources where they are needed most. However, further research is needed before genetic risk scoring can become a routine clinical tool.”

The results mark an important step forward in advancing personalized cancer care. If validated through further studies, genetic risk scoring could reduce the physical and emotional burden of overtreatment while ensuring that women at greater risk of developing invasive disease receive the care they need. By combining genetic data with clinical and lifestyle factors, doctors may soon be able to deliver a more accurate, individualized approach to breast cancer prevention and treatment.