ATM (ATM serine/threonine kinase)

An exploratory approach consisting of unmasking the results of the NGS analysis of 123 « research » genes involved in the carcinogenesis was applied to the 447 patients tested negative for the different genes of our diagnostic panel. This approach failed to identify other susceptibility genes to pancreatic adenocarcinoma.

This study elucidates the potential pathways through which BPA and phthalates contribute to GBM development via shared molecular mechanisms, offering a theoretical foundation for the identification of relevant diagnostic biomarkers and therapeutic targets.

Integration of ATM minigene read-outs into the ACMG/AMP (American College of Medical Genetics and Genomics/Association for Molecular Pathology)-based specifications for the ATM gene enabled the classification of 30 ATM variants as pathogenic or likely pathogenic and 9 as likely benign. Overall, splicing assays provide key information for variant interpretation and the clinical management of patients.

Integrating multi-omics technologies, liquid biopsy platforms, and AI-assisted imaging offers new opportunities for dynamic disease monitoring and biology-driven treatment selection. By consolidating current clinical practices with emerging experimental directions, this review provides clinicians and researchers with a comprehensive perspective on the evolving landscape of precision medicine in prostate cancer and highlights future opportunities to improve patient outcomes.

P1/2, N=31, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Nov 2025 --> Mar 2026

P2, N=40, Recruiting, Memorial Sloan Kettering Cancer Center | N=29 --> 40 | Trial completion date: Aug 2026 --> Aug 2027 | Trial primary completion date: Aug 2026 --> Aug 2027

Olaparib met the prespecified criteria to declare a signal of activity in patients with ATM-altered cancer within the LC and HP cohorts but not the CRC or PC cohorts.

Quercetin selectively enhances radioadaptation in normal cells by activating antioxidant pathways and reducing DNA damage, while preserving or amplifying radiosensitivity in cancer cells. These findings support quercetin may serve as a potential radiomodulating agent with favorable safety for increasing the therapeutic window of radiotherapy.

Genetic testing should be considered for all cancer patients in Uruguay, regardless of ancestry or tumor type. Further research is needed to better understand the role of less-characterized genes in BC, OvC, and PCa predisposition.

Our results suggest expansion of the phenotypic spectrum of some of these DDRG to include MM. The identification of these germline predisposition genes opens the avenue for targeted screening of higher risk individuals especially those with young-onset or a family history of plasma cell gammopathies.

Following a diagnosis of metastatic PDAC, the patient achieved complete remission after retreatment with FOLFIRINOX and has maintained remission for over 40 months on olaparib maintenance therapy...Our findings advocate for further clinical studies to assess the broader applicability of PARP inhibitors in PDAC patients with HRD mutations, including ATM and BRIP1, which could enhance survival outcomes in this high-risk population. Expanding the standard of care to include PARP inhibitors for HRD-positive PDAC could address a critical gap in treatment and improve patient prognosis.