Clinical Case: Outsmarting Breast Cancer with Multi-Omics ctDNA
Overview
Breast cancer is the second most common cancer worldwide, accounting for more than 600,000 deaths annually (1). Despite remarkable advances in early detection and treatment—leading to a 99% survival rate when diagnosed at an early stage—late detection and limited access to advanced therapies continue to make breast cancer one of the leading causes of cancer-related mortality in women (2).
While breast cancer screening methods such as mammography and ultrasound are well established, many patients do not comply with regular screening schedules, and some tumors may be missed between exams. To address these challenges, non-invasive blood-based methods like SPOT-MAS multi-omics ctDNA testing offer a promising new avenue for multi-cancer early detection (MCED) in general and breast cancer in particular.
Clinical Case
As part of the clinical validation of the SPOT-MAS assay, a 54-year-old female patient with no personal or family history of cancer underwent the test (3). The SPOT-MAS result revealed a positive ctDNA signal, suggesting a potential tumor presence in the breast and colorectum. The patient was then advised to proceed with diagnostic imaging, including breast ultrasound, mammography, and colonoscopy. Mammography revealed a 23×33 mm lesion in the right breast with poor echogenicity—raising suspicion of malignancy. A biopsy was subsequently performed to determine the histopathological nature of the lesion.
Histopathology confirmed the presence of invasive malignant mammary epithelial clusters within fibrous tissue. The cell nuclei appeared hyperchromatic and deformed, indicating an aggressive form of invasive breast carcinoma. The patient was diagnosed with Stage IB breast cancer and subsequently underwent successful radical surgery. This timely intervention—initiated from a ctDNA signal—illustrates the real-world impact of multi-cancer early detection in improving patient outcomes.
Clinical Significance
SPOT-MAS’s multi-omics ctDNA method can distinguish early-stage breast cancer from benign lesions, addressing a significant challenge in clinical diagnostics (4). Beyond breast cancer, the SPOT-MAS assay also demonstrates potential for identifying tumor-of-origin signals across 10 cancer types and 75 subtypes, supporting a more comprehensive and personalized approach to cancer screening (5).
Message for Breast Cancer Awareness Month
As we approach Breast Cancer Awareness Month (October 2025), Gene Solutions emphasizes the importance of early detection—finding cancer before it spreads.
We encourage everyone to prioritize their health through regular check-ups and screenings, as early action can save lives.
Innovative technologies like SPOT-MAS multi-omics ctDNA testing are paving the way for a future where we can outsmart cancer early.
▶️ Watch the full case study video here:
About SPOT-MAS
Available across Asia for multi-cancer early detection and tumor-of-origin localization.
Validated in eLife (2023; retrospective study, 2,288 participants) and BMC Medicine (2025; prospective study, 9,024 participants).
Delivers deeper molecular and pathological intelligence: 10 cancer groups mapped to 75 subtypes, with models trained on over 20,000 multi-omic datasets, including 2,000 subtype-annotated cases. (5)
References
(1) GLOBOCAN 2022
(2) Statistics adapted from the American Cancer Society’s (ACS) publication, Cancer Facts & Figures 2022 and Cancer Facts & Figures 2021; the ACS website; and the International Agency for Cancer Research website.
(3) Luu Hong Dang Nguyen et al. 2024. A consultation and work-up diagnosis protocol for a multicancer early detection test: a case series study. Future Science OA, 10(1). https://doi.org/10.1080/20565623.2024.2395244
(4) Le Son Tran et al. 2025. Multimodal analysis of cell-free DNA enhances differentiation of early-stage breast cancer from benign lesions and healthy individuals. BMC Biology. doi: 10.1186/s12915-025-02371-z
(5) Data source: Gene Solutions Multi-omics dataset on cancer subtypes (Accessed Sep 2025)
