Kataegis

Kataegis is a phenomenon observed in genomics and cancer research, characterized by a localized hypermutation in the genome. It was first described in 2012 by researchers studying breast cancer genomes. The term "kataegis" is derived from the Greek word for "thunderstorm", reflecting the storm-like nature of the mutations observed.

Overview

Kataegis is a pattern of localized hypermutation that occurs in clusters, or "storms", across the genome. These clusters are often found in regions of the genome that are important for cell function, such as genes that control cell growth and division. The mutations in these regions can lead to the development of cancer.

Mechanism

The exact mechanism of kataegis is not fully understood. However, it is thought to be associated with the process of DNA replication and repair. During DNA replication, errors can occur that lead to mutations. Normally, these errors are corrected by the cell's DNA repair machinery. However, in kataegis, this repair process appears to be faulty, leading to a buildup of mutations.

One theory is that kataegis is caused by a process called APOBEC-mediated mutagenesis. APOBEC proteins are a family of enzymes that can modify DNA, and they have been implicated in a number of cancers. In this theory, APOBEC proteins are thought to cause the mutations seen in kataegis.

Clinical significance

Kataegis has been observed in a number of different cancers, including breast cancer, lung cancer, and colorectal cancer. The presence of kataegis in a tumor can have significant implications for the prognosis and treatment of the cancer. For example, tumors with kataegis may be more resistant to certain types of chemotherapy.

In addition, the study of kataegis can provide insights into the mechanisms of cancer development and progression. Understanding how kataegis occurs could potentially lead to new strategies for preventing or treating cancer.

See also

• Cancer genomics
• DNA repair
• Mutation