Unexpected mutations of certain DNA parts might trigger a cancer

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It seems that the scientists have taken an important and huge step towards the discovery of how mutations might be a cause to certain cancer varieties. This new discovery actually shows that the DNA repair might be blocked in the important genome parts, which ultimately leads to a development of cancer.

Although you might know that the DNA mutations are the cause of cancer, not every mutation leads to the cancer development as such errors in the genome can be repaired by various cell mechanisms. How can we differ which of the mutations lead to the cancer development and which not?

Scientists are now a one step closer to solving the mystery, as the recent discovery has shown an unexpected link between the mutations present in the frequently overlooked genome regions and certain cancer types. More than 20 million specimen of mutations, harvested from thousands of tumours, have been studied by a team from the University of New South Wales Faculty of Medicine in Australia. They have discovered that the DNA repair is blocked in the specific genome regions which are known as the gene promoters and that such discovery applies to many cancer types, especially the skin cancers.

These regions are often overlooked by the scientists who are researching the cancer-causing mutations as they don’t code for anything, but are actually influential as they control the on & off gene switch. Since these genome parts influence the cell function, the mutations in this are particularly damaging and this team has found that they’re quite common in certain cancer types. The DNA in our cells is being constantly repaired from the potentially harmful mutations thanks to the various cell mechanism that protect us. The damage and repair process is normal on the daily basis as the exposure to some common things such as cigarette smoke or UV rays causes mutations which are almost momentarily repaired.

The discovery of the UNSW Medicine researchers suggests that the mutations of the promoter region might prevent the repair mechanisms by blocking the area which controls the gene expression of such mechanism. The team believes that this specific region could have a significant role in the development of various cancer types and could explain why the normal DNA repair system doesn’t prevent the tumour formation. This could eventually lead to the discovery of cancer development in earlier stages, when it’s possible to apply the specific and successful treatment.

At the moment, the researchers know that one promoter mutation, which is a part of TERT gene, can contribute to the cancer development. In comparison, many genes in our cells are known to cause the cancerous process due to the mutation of the normal cells. The researchers from UNSW of Medicine hope that this will change soon and that their research could be only a start of something big. The research has been presented and featured in the recent edition of Nature.

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