BRCA2 (Breast cancer 2, early onset)

P1/2, N=210, Recruiting, Shanghai SciBrunch Therapeutics Co., Ltd. | Not yet recruiting --> Recruiting

BRCA2 is the most common gene with germline variations, while CDK12 is the most frequently mutated gene in somatic HRR variants. This study suggests that HRR gene testing in patients with high-risk HSPC would help identify those with more aggressive clinical features and guide prognostication and potential targeted therapeutic strategies.

The use of PARP inhibitors and targeted therapies adds complexity to surgical decisions. Ongoing trials and new therapeutic strategies are expected to enhance the management and outcomes of OC.

Paeonol attenuates PH by rebalancing the BMP/TGF-β signaling through interacting with BRCC3 activation, thereby inhibiting vascular remodeling. These findings suggest that paeonol is a promising therapeutic candidate for PAH.

P=N/A, N=42, Active, not recruiting, Memorial Sloan Kettering Cancer Center | Trial completion date: Jan 2026 --> Jan 2027 | Trial primary completion date: Jan 2026 --> Jan 2027

For women electing imaging surveillance over risk-reducing surgery, our results may offer reassurance that their breast cancer-specific survival and OS are unlikely to be compromised. However, breast cancer incidence rates are significantly reduced after BRRM compared with imaging surveillance, which may be important information for women with pvBRCA1/2 considering BRRM.

These cases underscore the importance of interpreting SDHA variants carefully, as the identification of germline SDHA variants does not always indicate the need for aggressive surveillance or intervention. Germline SDHA variants increase the risk of PPGLs and wild-type GISTs.The penetrance of germline SDHA variants in carriers without an SDHA-related tumour is low.Careful clinical assessment is essential to determine if a patient with an SDHA germline mutation has an SDHA-related tumour.This is particularly complex in GISTs, as only wild-type GISTs (those without somatic variants in c-Kit or PDGFRA) are likely to be SDHA-related.Immunohistochemistry for expression of SDH subunits can help clarify whether a tumour is related to SDHA variants.

P2, N=80, Active, not recruiting, Gilead Sciences | Trial completion date: Dec 2025 --> Dec 2027

P1, N=18, Recruiting, Pamela Munster | Trial completion date: Feb 2027 --> Jan 2028 | Trial primary completion date: Jan 2026 --> Jan 2028

Loss of breast cancer susceptibility gene 2 (BRCA2) function was found to exacerbate doxorubicin-mediated cardiomyocyte apoptosis and promote heart failure progression...These results indicated that upregulation of BRCA2 could improve hypertrophic cardiomyopathy. BRCA2 alleviated cardiac hypertrophy via attenuation of inflammation and apoptosis.

It shows potential in identifying pathogenic variants and causal genes, uncovering the molecular mechanisms of disease pathogenesis, providing valuable references for clinical decision-making and therapeutic strategies, thus advancing precision medicine. VarXOmics is publicly available at https://www.phenomeportal.org/varxomics.

The present study is the first to characterize the phenotype associated with the HRR-deficient genotype in healthy individuals with a familial history of HBOC. Metabolomic profiles may be useful for differentiating carriers from noncarriers of PVs in the HRR genes, and therefore, with potential predictive capacity of the HRR germline mutational status.