Inherited blood cancer predisposition through altered transcription elongation. (https://pubmed.ncbi.nlm.nih.gov/38218188/)

These scientists wanted to understand why some people are more likely to get a type of blood cancer called myeloid malignancies. They knew that there are certain changes in our genes that can increase the risk of getting this type of cancer. But there were still many genes that they didn't know about.

So, the scientists decided to do a big study with a lot of people to find out which genes might be responsible for increasing the risk of myeloid malignancies. They looked at the genes of many people who had the cancer and compared them to the genes of people who didn't have the cancer.

They found a gene called CTR9 that was more common in people with the cancer. This gene is important for a process called transcription, which helps cells make proteins. When this gene doesn't work properly, it increases the chances of getting myeloid malignancies by about 10 times.

The scientists also discovered that when this gene doesn't work well, it causes an increase in the number of special cells in our blood called hematopoietic stem cells (HSCs). These cells are important for making new blood cells. The faulty gene makes these cells grow too much, which can lead to the development of cancer.

By studying these genes and how they interact with each other, the scientists hope to find ways to prevent and treat blood cancer more effectively in the future.

Zhao J., Cato LD., Arora UP., Bao EL., Bryant SC., Williams N., Jia Y., Goldman SR., Nangalia J., Erb MA., Vos SM., Armstrong SA., Sankaran VG. Inherited blood cancer predisposition through altered transcription elongation. Cell. 2024 Feb 1;187(3):642-658.e19. doi: 10.1016/j.cell.2023.12.016. Epub 2024 Jan 12.