Although ATM is a recurrently mutated DNA repair gene in cancer, it does not have a well-described mutational signature associated with it. 30 Hence, to evaluate whether newly identified pathogenic ...

By the time they are a few months old, infants born with alternating hemiplegia of childhood (AHC) begin experiencing ...

TP53 mutations can have a significant impact on the prognosis of diseases like chronic lymphocytic leukemia, but their effect ...

While most known types of DNA damage are fixed by our cells' in-house DNA repair mechanisms, some forms of DNA damage evade repair and can persist for many years, new research shows. This means ...

Induced synthetic lethality between DDR genes overwhelms the DNA repairing machinery in tumor cells, inciting mitotic catastrophe and apoptosis, 29 which subsequently stimulate cGAS-STING pathway and ...

The new analysis used banked tissue samples from S1314 patients to test the complementary hypothesis that mutations in specific DNA damage repair genes were enriched in tumors that were sensitive ...

In a step toward treating mitochondrial diseases, researchers in the Netherlands have successfully edited harmful mutations in mitochondrial DNA using a genetic tool known as a base editor. The ...

The team found unexpected patterns of mutation inheritance in the family trees, revealing that some DNA damage can persist unrepaired through multiple rounds of cell division. This was ...

However, cellular repair of double-strand breaks can lead to unintended DNA mutations, as well as the integration of exogenous DNA to the human genome, which raises safety concerns for clinical ...