A new genetic test developed by King’s College London researchers offers promising results in predicting who may develop invasive breast cancer after detection of abnormal cells. This could lead to more personalized treatments and minimized invasive procedures for thousands of women.
In a new study published in the journal Cancer Epidemiology, Biomarkers & Prevention, scientists at King’s College London have demonstrated that analyzing a person’s genetic risk score can help predict the likelihood of developing invasive breast cancer if abnormal cells have already been found in their breast tissue.
This groundbreaking research, funded by Breast Cancer Now, could revolutionize treatment approaches for thousands of women diagnosed with the condition annually.
The study involved more than 2,000 women from the UK who had their DNA tested for 313 genetic changes to create a genetic risk score.
These women had previously been diagnosed with either ductal carcinoma in situ (DCIS) or lobular carcinoma in situ (LCIS), the two most prevalent forms of pre-invasive abnormal cells in breast tissue.
A genetic risk score estimates an individual’s inherited susceptibility to developing a disease based on the combined impact of multiple genetic variants.
Such an assessment is revolutionary in the context of breast cancer, one of the most common cancers affecting women globally, with about 55,000 new cases annually in the UK alone.
“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, as not all with DCIS or LCIS will go on to develop invasive cancer,” first author Jasmine Timbres, a clinical information analyst at King’s College London, said in a news release.
“The results of this study show that the genetic risk score could be useful in this prediction, meaning that treatments could be more personalised, rather than giving everyone the same treatment approach,” she added. “In some cases, this could avoid unnecessary invasive treatments altogether, which can take a toll on patients both physically and emotionally. Focusing more on individual risk could improve overall well-being and help reduce the stress that comes with being overtreated.”
Currently, women diagnosed with abnormal breast cells face a varied treatment landscape ranging from heightened surveillance to surgery, radiotherapy and anti-estrogen therapy.
However, with the accuracy provided by the genetic risk score, treatment can be customized to individual risk profiles, sparing many from unnecessary procedures.
“In my clinical practice, I see many women diagnosed with DCIS or LCIS. Until now, treatment decisions have mostly been based on how the cells look under a microscope. Our research shows that a genetic risk score can also help predict which women are more likely to develop invasive breast cancer,” senior author Elinor Sawyer, a consultant clinical oncologist at King’s College London, said in the news release.
“By looking at the full picture, we can give women more accurate information about their personal risk of recurrence. This helps them make more informed choices about their treatment options and what’s right for them,” she added.
Simon Vincent, chief scientific officer at Breast Cancer Now, also underscored the potential of this research to enhance patient care.
“This study offers evidence that genetic risk scoring could be a useful tool for predicting future breast cancer in women diagnosed with ductal carcinoma in situ or lobular carcinoma in situ – which are the most common pre-invasive abnormal cells found in the breast,” he said. “Understanding who is most likely to develop invasive disease in the future could help to tailor care for those most at risk, inform treatment decisions and improve individual wellbeing for women.
“While these initial findings show promise for paving the way for more personalised treatment decisions in the future, more research is needed before this test can be used more widely.”
Source: King’s College London

