BRCA2 (Breast cancer 2, early onset)

The median progression-free survival was 34, 12, and 8 months for BRCA-negative, BRCA1-, and BRCA2-positive groups, respectively (p = 0.001). To our knowledge, this is the first comprehensive analysis of BRCA1/2 mutation profiles among Kazakhstani women, highlighting distinct genotype-phenotype correlations and supporting the need for personalized therapeutic strategies in this population.

Many women with a BRCA PV who have not elected for RRSO are experiencing high levels of decisional conflict related to the decision regarding RRSO. Interventions that target decisional conflict are needed to increase the uptake of RRSO which will result in a reduction of the risk of ovarian cancer in women with BRCA1 or BRCA2 PV.

In 11% of patients, the identified CPG GVs potentially sensitized to targeted therapies, such as PARP, immune checkpoint, or EGFR inhibitors. In conclusion, our study identifies CPGs and novel genes relevant in germline testing of glioma patients with a familial/personal tumor history, possibly resulting in targeted treatment options.

Genetic testing for asymptomatic relatives and clients with identified germline findings has been established, and Clinical Genomics for outpatients was opened in October 2024. We strive to provide personalized genetic medicine focusing on preventive care for clients and asymptomatic relatives.

PARPi+AKTi intercepted tumors but did not prevent new tumors. These data confirm the efficacy of a PARPi and an inhibitor of PI3K signaling in treating BRCA1/2-related tumors, but this combination is not sufficient to prevent carcinogenesis.

Pathway and perturbation analyses suggested that NCI-LYM-1 harbored a strong dependency on apoptotic pathways, which was confirmed by in vitro organoid testing with the BCL-2/BCL-xL inhibitor navitoclax (IC 50 : 0.27 µM) and the MCL-1 inhibitor AZD-5991 (IC 50 : 0.060 µM). Overall, NCI-LYM-1 recapitulates the clinical aggressiveness and heterogeneity of AVPC, providing a tractable platform to identify novel precision therapies.

Potential new associations with cervical cancer were also identified, warranting confirmation through large prospective studies. These findings highlight the importance of developing additional screening programs or preventive strategies for BRCA carriers, especially with regard to upper gastrointestinal tract malignancies.

Ovarian cancer is a heterogeneous disease that understanding the hereditary basis of this disease is crucial for its effective diagnosis, management and prevention. This review article aims to discuss the genetic basis of hereditary ovarian cancer, epidemiology, etiology and treatment options.

Advanced anal AD exhibited a distinct genomic profile compared with advanced rectal AD. CGP is a useful approach for identifying druggable GAs in advanced anal AD to expand therapeutic opportunities.

This hybrid training program significantly improved provider knowledge of hereditary BC genetics in Nigeria and offers a scalable, culturally tailored model for expanding BC genetic services in low-resource settings. While promising, the modest sample size and limited follow-up warrant further evaluation and broader rollout to confirm long-term effectiveness.

BRCArev can emerge in PCA in the absence of prior PARPi therapy, particularly following exposure to cytotoxic chemotherapy and radiation. These findings support that DNA-damaging therapies may promote BRCArev formation, potentially predisposing to primary PARPi resistance. Early integration of PARPi therapy before chemotherapy may enhance clinical benefit and circumvent emergence of primary resistance.

In luminal-type YBC excluding low ER expression, BRCA carriers demonstrated more aggressive features and significantly worse distant metastasis outcomes. These findings support the need for long-term surveillance and consideration of tailored treatment strategies, including PARP inhibitors, in this high-risk population.