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Genome-based biomarkers leading to validated molecular diagnostic tests for response prediction in breast cancer

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Predictive biomarkers for breast cancer

European researchers discovered novel biomarkers for breast cancer that will help predict the response to specific therapeutic regimens.


Breast cancer is the most common cancer in women with more than 1 million new cases every year. Though curable at early stages, about 50 % of patients present with stage II or III tumours at diagnosis. The implementation of molecular diagnostic approaches would facilitate a more personalised therapeutic approach. However, there are very few biomarker tests established in the market necessitating high-throughput research towards biomarker discovery. The primary aim of the EU-funded RESPONSIFY (Genome-based biomarkers leading to validated molecular diagnostic tests for response prediction in breast cancer) project was to perform large-scale screening studies to identify and validate new biomarkers. Considerable effort went towards the discovery of genes capable of modulating the expression of the human epidermal growth factor receptor 2 (HER2). HER2 is one of the key genes associated with breast cancer development. Researchers used breast cancer cell lines and biobanked patient samples to perform whole-genome screening for biomarkers predictive of the response and resistance to anti-HER2 directed therapy. In addition, they evaluated serum markers for response to anti-angiogenic therapy and immunological alterations. This work led to the development of an mRNA-based immune predictive test ("ImmunoPredict") that can monitor changes in immunological status in breast cancer tissue. Scientists discovered that tumour-infiltrating lymphocytes are indicative of an active intra-tumoural immune environment and can be predictive for a response to anti-HER2 treatment. In contrast, PIK3CA mutations serve as a marker for reduced response to double anti-HER2 treatment. Screening for these two parameters has already been included in the German breast cancer guidelines. Additional biomarkers derived from screening approaches of RESPONSIFY have been transferred to a RT-PCR based test platform with promising results that merit further validation. Overall, assays and tools for a better patient stratification will not only improve breast cancer patient outcome, but should also offer socioeconomic benefits.


Biomarker, breast cancer, HER2, ImmunoPredict, lymphocytes, PIK3CA

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