BRCA1 (Breast cancer 1, early onset)

Genetics has been shown to affect several aspects of disease, including carcinogenesis, onset age, clinicopathological features, prognosis, and therapy response. In this review, we will investigate the impact of germline PVs in different genes on genetic susceptibility to the development of inherited EC, discussing the potential cancer risk in mutation carriers as well as prognostic implications and current therapeutic approaches, also evaluating the possibility of carrying out a more extensive routine genetic analysis for EC women, in order to increase the diagnostic power, improve prevention and surveillance strategies in genetically predisposed subjects, and implement tailored therapies.

These data suggest that a subset of HRD PC may derive prolonged benefit from PARP-ICB maintenance and support further development of biomarker-guided precision immunotherapy strategies in PC. ClinicalTrials.gov identifier: NCT04666740 .

Following treatment with temozolomide (TMZ), the level of m6A modification was increased, facilitating YTHDF3-mediated DNA damage repair...Mechanistically, YTHDF3 recognizes the m6A binding site of DNA damage response genes (BRCA1, RAD51, RIF1 and 53BP1) and promotes their translation through m6A methylation, thereby initiating homologous recombination (HR) and nonhomologous end joining (NHEJ) repair to resist endogenous and exogenous DNA damage. Consequently, our study elucidates the crucial role of YTHDF3 in GBM and provides valuable insights into its significance in the DNA damage response and chemoresistance.

Patient characteristics were similar between HER2-low and HER2 IHC 0 subgroups except for some differences in genetic alterations. Deterioration of PFS in later lines of therapy highlights a potential unmet need. Given the high patient attrition, the most effective treatments should be used as early as indicated as some patients may not proceed to subsequent lines of therapy.

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

In this case report, we describe the therapeutic success of intensive alloHCT in AML-pCT patient with active BC. The presented treatment approach for active BC and AML-pCT requires collaboration between oncologists and hematologists to ensure fast decision-making.

When the model was used to predict future onset of ovarian cancer directly, the AUC offered was AUC = 0.75 (95% CI 0.70-0.78). Together, these data suggest the proposed model is a predictor of future ovarian cancer risk.

Integrating structured awareness programs into routine oncology and primary care practice may strengthen genetic literacy, promote informed decision-making, and encourage preventive health behaviors among women at hereditary risk, especially in low-resource settings.

For new lesions categorized as breast imaging reporting and data system 3 on MRI, biopsy should be considered, particularly for BRCA1/2 carriers. Prospective studies are needed to validate these findings and assess long-term clinical outcomes to inform personalized management approaches for high-risk populations.

This study confirms the importance of limiting HBOC genetic testing to clinically actionable genes in routine clinical practice. The re-evaluation and the prioritization of VUS are also essential, since they allow clinical laboratories to manage their resources more efficiently.

Taken together, these novel findings suggest that haploinsufficiency in BRCA1 and BRCA2 carriers may lead to DNA damage in the gastric epithelium, which may serve as an early event contributing to GC development. Implications: The elevated risk in GC for BRCA1 and BRCA2 PGV carriers may be due to haploinsufficiency and warrants further investigation into BRCA1 and BRCA2-associated GC.

Applying these models to 1,073 BRCA1 and 1,639 BRCA2 VUS, we strengthened or enabled classification of 39.48% BRCA1 and 50.52% BRCA2 assessable variants. This approach transforms underutilized tumor profiling data into evidence that can be directly integrated into variant classification, providing a scalable framework for other tumor profiling datasets and cancer genes associated with defined tumor genomic features.