Home » Colorectal cancer, bacterial ‘signature’ predicts Braf mutation

Colorectal cancer, bacterial ‘signature’ predicts Braf mutation

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A ‘team’ of intestinal bacteria, the presence of which distinguishes colorectal cancer defined by the mutation of the Braf gene. It is the one identified in a recent study by the research team of the Cancer Stem Cells Unit of the Irccs Casa Sollievo della Soflievo. A discovery that could allow the early diagnosis of colorectal cancer, the third most common cancer and one of the main causes of cancer death.

The ‘signature’ of the microbiota

Braf mutations are associated in approximately 10% of patients with colorectal cancer and in metastatic patients. These are mutations that give rise to cancers with a poorer prognosis and less responsive to therapies. In the study, published in the Journal of Experimental & Clinical Cancer Research, the research team coordinated by Elena Binda, head of the Cancer Stem Cells Unit of the Irccs Casa Sollievo della Sofferenza, has identified a ‘signature’ of the microbiota that distinguishes colorectal cancer defined by the mutation of the Braf gene.

Microbiota and tumor

The microbiota, that is the set of bacteria that colonize the intestine, seems to influence the risk of getting cancer, including colorectal cancer and the response to drugs. The expansion of some ‘bad’ microorganisms can, in fact, forge the inflammatory and immune system, and favor the uncontrolled growth of cells, favoring the development and progression of cancer. “In this study we initially developed a new innovative mouse experimental model, by injection of the cells that cause the onset of CRC BRAFV600E, ie transformed malignant stem cells (CSCs),” explains biologist Binda. In practice, the presence of a distinct group of intestinal bacteria was identified in an experimental model, where the Braf mutation was present.

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The patient study

Subsequently, the intestinal microbiota profile identified in the experimental model was searched directly in patients with CRC BRAFV600E, thanks to the collaboration of Valerio Pazienza, researcher of the Gastroenterology Unit of the Irccs Casa Sollievo della Soflievo and co-author of the study, made possible also thanks to the funding of the Italian Cancer Research Association (Airc). “We have observed that the mutation of the BRAFV600E gene orchestrates a specific profile of bad microorganisms that is well associated with the aggressive and lethal profile typical of this neoplasm,” explains Binda. “In particular, we compared the samples of the carriers of the mutated Braf gene, with those of a second group in which the V600E mutation is absent. By comparing the frequencies of bacteria observed in the two groups, we found that some species are much more frequently present in the mutated Braf gene carrier group than in the group in which the V600E mutation is absent ”.

A signature of ten microbial species

The analysis, therefore, led to distinguish a ‘signature’ of 10 microbial species: this signature, in the future, could be useful for discriminating the presence of the mutated Braf gene, paving the way for screening programs for non-invasive diagnosis and early colorectal cancer carrying the Braf gene mutation and the implementation of new therapies that are increasingly personalized and effective, as well as less toxic, also in combination with standard therapeutic regimens. “Thanks to the new second generation genetic sequencing technologies”, concludes Pazienza, “it is possible for us to exploit the diagnostic, prognostic and therapeutic potential of the trillions of microorganisms that coexist with the human body and which constitute the so-called microbiota, still today little explored “.

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