Simple Blood Test Could Predict Breast Cancer Years In Advance

In an ongoing project at University College London (UCL), researchers may have identified an epigenetic signature in the blood of some women that could be an accurate predictor of certain types of breast cancer.

The researchers have focused on looking for changes in the ways DNA functions as opposed to seeking out already existing genetic mutations, according to a news article published recently by NBC News. This focus helped them begin to identify genetic similarities between women with a BRCA1 gene mutation, which many believe to be a key factor in the onset of some types of breast cancer, and women without a BRCA1 mutation who nonetheless went on to develop breast cancer.

“We identified an epigenetic signature in women with a mutated BRCA1 gene that was linked to increased cancer risk and lower survival rates. Surprisingly, we found the same signature in large cohorts of women without the BRCA1 mutation and it was able to predict breast cancer risk several years before diagnosis,” Martin Widschwendter, head of UCL’s Department of Women’s Cancer, said in a press release.

In the study, Widschwendter and the research team analyzed blood samples that had been collected from women several years before they eventually developed breast cancer. The study included samples from women both with and without a BRCA1 gene mutation.

The researchers looked at DNA methylation signatures, a genetic process that turns certain genes off or on and which many believe plays an important role in the development of cancer. They discovered that women who developed cancer due to a hereditary BRCA1 gene mutation and women who developed cancer in the absence of this particular mutation all shared similar DNA methylation signatures.

“Women who carry the signature are at particularly higher risk of developing breast cancer in the future,” Widschwendter said in the NBC News article.

This discovery could make it possible to use a basic blood test to formulate accurate predictions about who is most at risk of one day having breast cancer, years before it actually begins developing.

“The data is encouraging since it shows the potential of a blood based epigenetic test to identify breast cancer in women without known predisposing genetic mutations,” Widschwendter said in the press release.

Results from the study have been published in the journal Genome Medicine.

According to UCL’s press release, additional research is still required to determine whether the DNA methylation signature identified in the study is just an indicator of breast cancer or an actively contributing cause of it.