Genetic risk score linked to invasive breast cancer after DCIS/LCIS
Researchers at King’s College London have for the first time demonstrated a connection between a person’s genetic risk score and their risk of developing invasive breast cancer after abnormal cells are found in breast tissue. The study, published in Cancer Epidemiology, Biomarkers & Prevention and funded by Breast Cancer Now, followed more than 2,000 UK women who had been tested for 313 genetic variants forming a genetic risk score. These patients had already been diagnosed with either ductal carcinoma in situ (DCIS) or lobular carcinoma in situ (LCIS) — the most common pre-invasive changes detected in breast 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 aggregating data from hundreds of tiny genetic differences, researchers can gain a clearer view of who is more likely to progress from non-invasive changes to invasive cancer.
The study and its findings
In the UK, routine breast screening through the NHS is offered every three years to women aged 50 to 71. While screening helps catch cancers earlier, it also identifies many cases of DCIS or LCIS. At present, doctors cannot reliably predict which of these women will go on to develop invasive disease, leading to a range of treatments from vigilant monitoring to surgery, radiotherapy, and anti-estrogen therapy.
The King’s College London study analyzed how the genetic risk score correlated with later development of invasive breast cancer in women with pre-invasive changes. The results suggest that the score could be a valuable tool in distinguishing which women are at higher risk of progression, potentially guiding more personalized treatment decisions.
Why this matters for care and treatment decisions
Breast cancer remains the most common cancer in women in the UK, with roughly 55,000 new cases each year. If clinicians can better identify those at genuinely higher risk of progression, care can be tailored accordingly. This could mean intensifying surveillance for some while avoiding unnecessary invasive interventions for others, ultimately supporting both physical health and emotional well-being.
Clinical implications and patient impact
As Jasmine Timbres, the study’s first author, explained, predicting who is most likely to develop invasive cancer is essential for offering the best possible treatment options. A genetic risk score could enable more personalized decisions, reducing overtreatment in some patients and focusing resources on those at greatest risk. In practical terms, this means that for some women, a less aggressive approach may be appropriate, while others might benefit from closer monitoring or preventative therapies based on their inherited risk profile.
Expert perspectives and cautions
Professor Elinor Sawyer, senior author and Consultant Clinical Oncologist at King’s College London, emphasised that this approach should complement, not replace, existing assessments. Dr. Simon Vincent, Chief Scientific Officer at Breast Cancer Now, noted that while the findings offer promise for tailoring care and improving well-being, more research is needed before the test is adopted widely in clinical practice.
Looking ahead
The study underscores a broader shift toward personalized medicine in breast cancer care — considering a patient’s genetic makeup alongside histology, lifestyle, and other risk factors. As researchers continue to validate and refine genetic risk scoring, patients diagnosed with DCIS or LCIS could benefit from clearer information about their risk and more individualized treatment pathways. The ultimate goal is to improve outcomes while reducing unnecessary treatments and the associated physical and emotional tolls.
About the study and funding
King’s College London conducted the research, published in Cancer Epidemiology, Biomarkers & Prevention, and funded by Breast Cancer Now. The findings contribute to a growing body of evidence that genetic risk scores can inform risk stratification and help optimize care for women facing pre-invasive breast changes.
