BRCA1 (Breast cancer 1, early onset)

BRCA1 rs12516 is characterized as a potential biomarker associated with CRC risk, via a possible functional ceRNA network of BDNF-AS, miR-4704-5p and BRCA1. The interaction of a lower expression of BDNF-AS, a higher expression of miR-4704-5p and rs12516 A allele could together increase the risk of colorectal cancer.

This study presents an integrated in-silico drug discovery workflow for the identification of new generation analogues of clinically approved drugs Olaparib and Talazoparib as potential PARP1 inhibitors. Overall, this study has underlined the usefulness of integrated in-silico approaches to accelerate the discovery of optimized PARP1 inhibitors for targeted cancer therapy. The online version contains supplementary material available at 10.1007/s40203-025-00543-x.

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.

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.

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.

The compound 2j significantly inhibited the MDA-MB-231 cells proliferation by downregulation of EGFR, p-EGFR, and p-AKT protein expression levels. Molecular docking studies revealed that compound 2j had a strong binding affinity and interacted closely with key catalytic residues of EGFR, outperforming erlotinib, a known EGFR inhibitor, suggesting its potential as an anti-breast cancer drug candidate.

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.

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.