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Singapore Scientists Develop New DNA Technology to Detect Breast Cancer Relapse

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Researchers in Singapore, together with international collaborators from Denmark and USA, have successfully identified a unique biomarker that is strongly associated with breast cancer relapse. This finding has led to the development of a simple blood test which has numerous clinical applications, such as detecting relapse early and testing treatment efficacy. The study was recently published in scientific journal Nature Medicine in September 2017.

Jointly led by A*STAR’s Genome Institute of Singapore (GIS), Tan Tock Seng Hospital (TTSH) and National University Health System (NUHS), the research utilised an integrative genomic approach to analyse tumour samples from breast cancer patients, which led to the identification of this biomarker. The identified biomarker was found in more than 70% of recurrent tumours, taken from breast cancer patients who suffered relapse of the disease. In addition, the study shows that early stage patients whose tumours tested positive for this biomarker at the time of diagnosis are nearly 40 times more likely to develop a relapse within 5 years than patients whose tumours tested negative. The finding prompted GIS Innovation Fellow Dr Goh Jian Yuan and his colleagues to develop a blood-based diagnostic test kit to detect tumour DNA in the blood.

“Tumour relapse remains the main reason for breast cancer mortality. However, there are unmet clinical demands for new technology to monitor patients or treatment to prevent disease relapse. The blood test we developed based on this finding can be potentially used to monitor tumour progression after treatment so that doctors can make early decisions on other forms of therapy,” explained the study’s lead author Prof Yu Qiang, Senior Group Leader, Cancer Therapeutics & Stratified Oncology at GIS. “A finding like this has strong clinical potential; it warrants further prospective clinical validations and future commercial development,” he added.

Co-senior author Dr Tan Ern Yu, senior consultant and breast surgeon at TTSH, commented, “Due to limited sensitivity and specificity, available tumour markers for breast cancer are not routinely used. This blood-based DNA test has the potential to be routinely used as the primary model for monitoring treatment response in breast cancer patients.”

“Our studies have shown that drugs that inhibit a therapeutic target, called IRAK1, can be used to treat tumours that test positive for the biomarker. Given the promising efficacy of IRAK1 inhibitors in our pre-clinical studies, this class of drugs may potentially be tested in clinical trials in breast cancer patients whose tumours test positive for the biomarker,” said co-senior author, A/Prof Lee Soo Chin, Head and Senior Consultant, Department of Haematology-Oncology, National University Cancer Institute, Singapore, which is a member of the NUHS.

Executive Director of GIS, Prof Ng Huck Hui said, “GIS has been working with the clinical community to develop various liquid biopsy technologies. Liquid biopsy has been steadily gaining traction in the last few years and many studies have illustrated its potential application and advantages in individualised medicine and oncology management. A non-invasive alternative to tissue biopsy, it might also help clinicians make more informed decisions for treatment regimens. The team at GIS is committed to developing and commercialising the blood test with industry partners so that it can be adopted in clinics quickly to benefit breast cancer patients.”

Breast cancer is the most common cancer in women worldwide. It is estimated that over 508,000 women died in 2011 due to breast cancer.

Study: Chromosome 1q21.3 amplification is a trackable biomarker and actionable target for breast cancer recurrence [Nature Medicine]

Source: Genome Institute of Singapore