ATM (ATM serine/threonine kinase)

P2, N=140, Not yet recruiting, Dana-Farber Cancer Institute

Identifying high-risk individuals is crucial for effective genetic counseling, testing, and potential screening programs to facilitate early diagnosis and improve outcomes. Future research should prioritize large prospective cohorts, screening programs, and the integration of emerging technologies, such as AI-assisted imaging.

Notably, the null pattern appeared exclusively in ECs with pathogenic POLE mutations. These results suggest that ATM IHC staining is an effective screening tool for identifying patients who may benefit from confirmatory POLE sequencing among those lacking MMR deficiency or p53 abnormalities.

Treated tumors showed reduced ATM and Ki67 with elevated γH2A.X. Together, these findings identify PRMT5 inhibition as a trigger of reduced ATM function that exposes a therapeutically actionable vulnerability to CHK1 inhibition, offering a rational, mechanistically-based combination strategy for this dismal disease.

Electron microscopy evidence demonstrates that ATM inhibition prevents replication fork reversal, which is restored by BRCA1-A loss to generate substrates for end resection. These findings reveal that BRCA1-A enforces a restrictive chromatin state to suppress the genesis of resection substrates, implicating fork reversal as a key determinant of chemotherapy response in ATM deficient cells.

P2, N=32, Completed, Dana-Farber Cancer Institute | Active, not recruiting --> Completed

The patient received craniospinal radiation with a boost and concurrent temozolomide. She achieved rapid and significant neurologic recovery of function with KPS increasing to 90, accompanied by radiographic improvement. This case highlights the utility of PET/MRI in biopsy planning and underscores the importance of integrated histological and molecular diagnosis for management of non-enhancing gliomas.

PRS assessment identified four PRSs with good discriminatory power (AUC > 0.690), with PGS003738 showing the highest performance (AUC = 0.702, top decile OR = 3.57). These findings highlight the need for population-specific genetic studies to improve breast cancer risk stratification in Arab populations.

Patients with high DU showed diverse mutational characteristics, which may reflect the heterogeneous nature of MM and contribute to inferior survival outcomes.

High immunohistochemical expression of MRE11 and ATM proteins was associated with earlier clinical stages and better treatment outcomes in laryngeal carcinoma, particularly when both proteins were elevated. The results point to the potential of MRE11 and ATM as predictors of treatment response, but more extensive molecular and clinical research would be needed to gain a more detailed insight.

P1/2, N=442, Recruiting, Artios Pharma Ltd | Trial completion date: Dec 2026 --> Dec 2027

AT patients may be at risk for delayed, potentially life-threatening hemorrhagic cystitis, particularly following cyclophosphamide exposure. Cystoscopy is essential for diagnosis and enables timely endoscopic management.