IMIM - Institut Hospital del Mar d'Investigacions Mèdiques

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26/04/2016 - Press release

A new genetic test improves and expands the detection of mutations that cause resistance to colon cancer treatments

The expansion of the genetic test allows the detection of newly identified mutations by a team of oncologists at Hospital del Mar and the IMIM

Oncologists from Hospital del Mar and its research institute, the Hospital del Mar Research Institute (IMIM have expanded and improved the genetic test for detecting the presence of mutations that frequently cause resistance to a treatment used against colon cancer. This genetic test, which had already been validated and incorporated into clinical practice in 2014, through an agreement with the Belgian company Biocartis, has now been expanded to include new mutations, allowing oncologists to improve and personalise colon cancer treatments still further.

This genetic test came into being in 2012 thanks to research work led by Dr. Clara Montagut and Dr. Joan Albanell of Hospital del Mar, which was published in Nature Medicine. For the first time they identified a biomarker showing how the mutation in an oncogene, the epidermal growth factor receptor (EGFR), was the cause of the resistance to a drug group frequently used in colorectal cancer, the anti-EGFR drugs. This was the starting point for the subsequent marketing of a kit that has meant the incorporation of laboratory research into clinical practice in record time -less than three years- and which contributes to personalised colon cancer treatments.

Thanks to the agreement between Hospital del Mar and Biocartis this new biomarker was incorporated and marketed in a unique panel of colon cancer markers using state-of-the-art platforms. “These platforms allow the easy, quick and highly sensitive analysis of a series of tumour mutations and, consequently, doctors rapidly receive the data they need to decide the best treatment for each patient in a personalised way”, explains Dr. Montagut, an oncologist at Hospital del Mar, an IMIM researcher and head of the study. “Incorporating the recently identified mutations into these platforms explains a further 10-15% of the resistance developed by the tumours. With this increase, the EGFR mutations become, along with Ras mutations, the most important causes of resistance to this drug group”, continues Dr. Montagut.

At a time when medicine is evolving towards diagnoses based on biomarker analysis, research into and improvement of these techniques are key. “This new set of resistance mutations enables us to improve patient care for colon cancer sufferers who are receiving anti-EGFR therapy. I am looking forward to the liquid biopsy version of this trial, which we are actively working towards. It will allow us to determine these mutations by analysing a patient's blood sample, and will give us a real-time view of how the tumour is behaving. It will help us monitor the tumour more closely and enable personalised therapeutic decisions to be made at all times”, explains Dr. Montagut.

Liquid biopsies for detecting these blood plasma markers already are being developed and will be launched between 2016 and 2017. Until now, they have only been available for detecting RAS and BRAF in metastatic colon cancer. “The speed with which our work has been transferred to industry is the result of the research excellence, the importance of the possibilities it offers, and the fact of being a Hospital del Mar study. To this has been added, in recent years, the multidisciplinary collaboration with Biocartis and Dr. Bardelli from the Institute for Cancer Research in Turin”, explains Dr. Joan Albanell, head of the Oncology Service at Hospital del Mar and director of the IMIM's Cancer Research Programme. “The translation of all these discoveries and efforts into a liquid biopsy able to detect the mutations in a patient's peripheral blood will be a huge leap forward in the monitoring of colon cancer, as well as therapeutic decision making”, continues Dr. Albanell.

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