28 January, 2022
A new genomic test allows personalising the treatment of HER2+ breast cancer
Cancer is a very heterogeneous disease and that is why research is being carried out to develop treatments that are adapted to the characteristics of each subtype. But then there is the challenge of identifying which patients benefit most from each treatment. With this in mind, HER2DX has been created, a genomic test that predicts survival and the possibility of responding to treatment in HER2-positive breast cancer patients in their earliest stages. This tool is the first genomic test created worldwide for this disease and researchers from the Clínic – IDIBAPS – UB, the Vall d’Hebron Instituto de Oncología, the Università di Padova (Italia) and REVEAL GENOMICS.
“This new test is the fruit of more than ten years of research on HER2-positive breast cancer. A work that has served to understand that this type of tumours is divided into several subtypes based on the expression of multiple genes, with different prognoses and responses to treatments in each case. Now, with HER2DX, we hope to help specialists in decision-making for better patient management”, explains Dr Aleix Prat, head of the Medical Oncology Service at Hospital Clínic, barnaclínic+ specialist and Head of the Translational Genomics and directed therapies in solid tumours group of IDIBAPS. Dr Prat is also a full professor at the Universitat de Barcelona and one of the co-founders of the company REVEAL GENOMICS, which will market the new test.
«This new genomic test is the fruit of more than ten years of research on HER2-positive breast cancer and, with it, we hope to help specialists in making decisions for better patient management»
To validate the reliability of this tool, Dr Aleix Prat,, in collaboration with the research group of the Università di Padova, led by Prof. Pierfranco Conte and Prof. Valentina Guarneri, coordinated a study with more than a thousand patients, whose results have just been published in The Lancet EBioMedicine.
THIS GENOMIC TEST FOR BREAST CANCER ALLOWS TO AVOID UNNECESSARY TREATMENTS
By measuring the RNA of 27 genes and integrating this information with clinical data such as tumour size and axillary node involvement, HER2DX is able to divide patients into low or high-risk groups through scores based on through intelligent analytical software. To achieve this goal, the genomic test takes into account four important biological processes in breast cancer: the activation of the immune system within the tumour, the differentiated state of the tumour cells, the proliferation of the tumour and the expression of the HER2 gene itself and several neighbouring genes on chromosome 17.
In this way, the tool is capable of offering two important pieces of information about the behaviour of the tumour that will serve to adapt the treatment to each case. On the one hand, the patient’s prognosis, providing information on how likely it is that the cancer may reappear in the following ten years. On the other hand, the sensitivity of the tumour to chemotherapy and anti-HER2 treatments administered before tumour surgery. Thus, the test will help decide whether surgery or drug treatment is necessary.
«We want to help specialists feel safe not to use chemotherapy in cases where it is not necessary»
“In this way, we want to help specialists to feel safe not to use chemotherapy in cases where it is not necessary”, points out Dr Aleix Prat. And it is that the promoters of this tool calculate that up to 30% of the cases analysed by the test will allow the application of milder therapies to patients, thus avoiding the most serious side effects in cases where it is not necessary.
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HER2 POSITIVE BREAST CANCER, A VERY COMMON DISEASE
About 20% of all diagnosed breast tumours are HER2 positive. It is estimated that in Europe a woman is diagnosed with HER2-positive breast cancer every six minutes. This means more than 100.000 women each year. For more than five years, the research line of Dr Prat and Dr Charles M. Perou, a researcher at the University of North Carolina (Chapel Hill, United States), also co-founder of REVEAL GENOMICS and co-author of the study, has allowed us to describe the biological heterogeneity of HER2-positive disease and to identify patients with different benefits from treatments and patients with different risks of relapse after receiving a diagnosis of breast cancer.
To date, no tools existed to predict relapse risk and survival beyond tumour size and the presence of axillary node disease. “Despite the great therapeutic advances in the last decade in HER2+ breast cancer, the vast majority of patients do not receive optimal treatment; that is, either more treatments than the patient needs, or the treatments we give are not enough to cure. The problem is that therapeutic decisions as important as the need (and type) of chemotherapy, or the amount (or duration) of anti-HER2 treatment, do not take into account the biological heterogeneity of this disease”, comments Prof. Conte, study co-author.
“It is not new that genomics provides us with a lot of data. But now for the first time, in the context of HER2+ breast cancer, we have been able to develop a tool that brings all this information to clinical practice, to ensure that your treatment is as personalised and precise as possible. Tests that predict not only the response to a certain drug but also provide information on biological aspects of the disease, such as HER2Dx, are the ones that will help oncologists the most in the future, since they will allow them to delve deeper and understand each specific case”, explained Dr Ana Vivancos, head of the Cancer Genomics group at VHIO and co-founder of REVEAL GENOMICS.
THE FIRST WORLDWIDE TEST SPECIALISED IN HER2+ BREAST CANCER
HER2DX is already available and is commercialised by the spin-off REVEAL GENOMICS whose founders, in addition to Dr Prat, Dr Perou and Dr Vivancos, are Dr Joel S. Parker, from the University of North Carolina (Chapel Hill, USA), and Dr Patricia Villagrasa-González, CEO of the company.
“Just one year after the creation of REVEAL GENOMICS, we are pleased to present the company’s first test in the field of precision oncology. We are convinced that HER2DX will help oncologists and patients to make accurate therapeutic decisions thanks to the information it provides”, says Dr Villagrasa-González. HER2DX is implemented thanks to a partnership agreement between REVEAL GENOMICS and the Centre for Biomedical Diagnosis (CDB) of the Hospital Clínic, directed by Dr Aurea Mira who, together with her team, are also co-authors of the article: “It is a great leap of technological and scientific innovation that, with the experience of CBD, will be available in record time for the benefit of patients with breast cancer”, says Dr Mira.