Cell-Free DNA: Revolutionizing Breast Cancer Management and Screening

In an interview with Targeted Oncology^TM, Massimo Cristofanilli, MD, medical oncologist at the Breast Center at Weill Cornell Medicine, NewYork-Presbyterian, discusses the role of cell-free DNA in breast cancer.

cfDNA has made significant strides in managing breast cancer, particularly in patients with hormone receptor-positive disease. Its primary application is the identification and monitoring of targetable mutations. This includes mutations in genes like PIK3CA, AKT, and ESR1, for which approved drugs are already available. Additionally, FGFR2 mutations, often associated with treatment resistance, can also be detected, though they are less frequently highlighted. The growth in this field is evident through numerous publications supporting the approval of these drugs alongside their companion diagnostics.

The field is also advancing into earlier disease stages, with molecular residual disease (MRD) being an active area of investigation. It's anticipated that within the next few years, various modalities will allow for the detection of disease before recurrence, enabling earlier intervention and ultimately prolonging the time between initial detection and disease onset. This represents the current trajectory of liquid biopsy applications.

The ultimate goal for liquid biopsy is cancer screening. While not yet approved for widespread screening, similar technologies are currently being tested in high-risk patients who may not benefit from standard screening methods or for whom standard screening is insufficient. This includes women with dense breasts or those with a genetic predisposition where even MRI might not be appropriate.

"We already have an approved blood test for colorectal cancer screening, and there's hope that breast cancer will soon have a similar approved blood test for screening, particularly for early detection," Cristofanilli said.