Recent studies have revealed the importance of extrachromosomal DNA (ecDNA), a type of DNA found outside of chromosomes that until recently was considered irrelevant. This discovery, published in Nature by researchers at Stanford University and the Francis Crick Institute, suggests that ecDNA plays a crucial role in the development of many forms of cancer.
The results indicate that over 17% of the patients analyzed presented ecDna in 39 different forms of tumor. Ylli Doksani, a biologist at the Milan Institute of Molecular Oncology (Ifom), explained that extrachromosomal DNA can be compared to a genetic “wild card”, used by tumor cells to proliferate and escape immune defenses. In some specific cases, such as breast cancer with certain mutations, the presence of ecDna affects one in two of patients.
“The presence of ecDNA appears to correlate with increased tumor aggressiveness,” Doksani said. Furthermore, studies have revealed that ecDna not only contains genes that promote transformation into cancer cells, but also regulatory genes that can increase the expression of other genes. This complex mechanism suggests that ecDna may significantly influence cancer progression.
Another crucial aspect that emerged from the research is the continuous production of proteins derived from ecDna even during cell division. This characteristic increases the probability that tumor cells transmit ecDna to their daughter cells, giving them a competitive advantage in evading immune defenses. Researchers have identified a vulnerability in ecDNA: by blocking a control protein called Chk1, they were able to cause tumor cells to die in the lab and induce regression of gastric tumors in mice. These promising results have paved the way for clinical trials in patients with specific forms of cancer. Growing understanding of the role of ecDNA could lead to new targeted therapies, potentially transforming the cancer treatment landscape and improving the outlook for patients worldwide.
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