October 26, 2022

Liquid Biopsies: Opportunities in Breast Cancer Care

Early detection and minimally invasive monitoring of cancer are key to improving outcomes. For Breast Cancer Awareness Month, we are spotlighting Hani Goodarzi, who has a Mark Foundation ASPIRE award to study how circulating RNAs can inform our approach to diagnosing, monitoring, and treating breast cancer.

Hani Goodarzi, PhD

Early and facile detection of cancer is crucial for increasing treatment efficacy and improving survival rates. While there are diagnostic tests available for the early detection of a subset of cancers, such as ovarian and colorectal cancers, these often involve invasive procedures which lower their widespread use. Moreover, once cancer is diagnosed, tracking disease progression often relies on imaging modalities which do not provide information on the molecular changes which occur in the tumor over the course of treatment.

Over the past decade, improvements in sequencing technologies have paved the way for analyzing circulating tumor DNA which is continuously released by cancer cells into the blood. Termed liquid biopsies, this technology has the potential to detect and monitor cancer in a minimally invasive way from diagnosis through treatment. Despite the promise of this new frontier in cancer research, limitations and barriers remain, such as low abundance of circulating tumor DNA (ctDNA). In an ASPIRE award, Hani Goodarzi and his team are aiming to overcome these challenges by turning to RNA.

In addition to DNA, cancer cells also secrete RNA into the blood inside of structures called exosomes. This circulating tumor RNA can be orders of magnitude more abundant in blood than ctDNA. Goodarzi and his team have also found that cancerous cells often aberrantly express non-coding RNAs which are not expressed by healthy cells. These “orphan-noncoding RNAs” (oncRNAs) may represent a rich biomarker for the presence of cancer cells and have the potential to provide more information than the corresponding ctDNA samples in providing information on the status of the tumor.

Goodarzi and his team are carrying out a rigorous retrospective study in collaboration with the ISPY2 clinical team at University of California, San Francisco. As part of this study, they are profiling time-series samples from over 200 breast cancer patients who received different therapies through the course of their treatment. From this data set, they are building a specialized machine learning platform that can efficiently and effectively mine RNA species in the resulting samples to perform risk assessment and enable diagnosis and therapeutic decisions.

“These studies are the first steps in expanding our knowledge of how oncRNAs can inform breast cancer diagnosis and treatment,” explained Goodarzi. “With the rapid expansion of liquid biopsy techniques, funding from The Mark Foundation has been key for applying machine learning techniques to analyze how circulating RNA can expand and improve the work which has been done on DNA.”

If the correlation between tumor burden and circulating oncRNA levels persists in the study, it may pave the way for a new early detection strategy for breast cancer, particularly in screening high-risk individuals. Ultimately, the hope is that these studies will aid in developing assays which can lead to earlier diagnoses, and less invasively, for breast cancer and eventually a broader array of tumor types.

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