BRCA1 mutation

The DUO-E pMMR subpopulation was highly heterogeneous with frequent overlap of biomarkers and histology. Consistent with the primary analysis, durvalumab plus olaparib improved the PFS benefit observed with durvalumab versus control across a range of biomarker and histological subgroups.

Multivariate Cox regression analysis identified clinical stage as an independent predictor of overall survival, with patients at stages Ⅲ-Ⅳ exhibiting poorer prognosis (HR=5.359, 95% CI: 1.124-25.546). BRCA-mutated colorectal tumors exhibit lower invasiveness, higher TMB-H rates, and abundant immune cell infiltration in the tumor microenvironment, suggesting that patients with BRCA-mutated colorectal cancer are more likely to benefit from immunotherapy.

Ongoing phase I and II trials explore combination therapies with checkpoint inhibitors and antibody-drug conjugates to overcome these barriers. This review examines the current landscape, mechanisms, and challenges of breast cancer vaccines, highlighting their potential to transform oncology through personalized, less invasive strategies.

P3, N=302, Completed, AstraZeneca | Active, not recruiting --> Completed

In this article, an overview of the current state of knowledge on HBC is provided, focusing on the frequency of founder mutations in the BRCA1 and BRCA2 genes in HBC in Poland compared to other countries. We will also highlight the role of genetic counseling in the diagnosis and treatment of BC, emphasizing its crucial importance in identifying genetic predispositions, selecting appropriate therapeutic strategies, and supporting patients and their families in making informed medical decisions.

Recent evidence has shown that BRCA1/2 mutations also exist in some sporadic gastric cancer patients and may profoundly affect tumor biological behavior, clinical prognosis, and treatment response. This article systematically reviews the latest research progress on BRCA1/2 mutations in sporadic gastric cancer, focusing on their incidence and molecular characteristics, their impact on patients' postoperative prognosis, and their potential value as novel biomarkers for guiding individualized therapy, thereby providing a theoretical basis for clinical risk stratification and tailored treatment strategies.

g/sBRCA+/HRD+ ovarian cancer status is associated with improved survival regardless of primary tumor reductive surgery or neoadjuvant chemotherapy. BRCA-/HRD- status is an adverse prognostic factor for survival.

Full BRCA1/2 promoter methylation was significantly associated with younger age of onset (55 and 58 years, respectively) compared to BRCA1/2-mutated cases, suggestive of BRCAness phenotype. However, in the exploratory analysis of 68 patients with clinical follow-up, we did not find a strong survival advantage for BRCA1/2 methylated over BRCA1/2-intact cases, yet more moderate effects cannot be ruled out due to the cohort size.

BRCA1/2 mutation carriers were also more frequently premenopausal (78.6% vs 43.9%, P = .025).ConclusionsThere is a high prevalence of BRCA1/2 mutations among TNBC patients in Vietnam. Women with TNBC in Vietnam should be screened for mutations in BRCA1/2.

Future research should focus on biomarker-driven strategies, including combinations to optimize outcomes. These insights may refine clinical guidelines, advocate for personalized treatment algorithms, and stimulate research into resistance mechanisms, ultimately improving care for BRCA-mutated BC patients.

While 52% perceived prostate cancer as a high-risk condition for men in general, only 22% viewed their own personal risk for prostate cancer as high. Most participants reported not knowing about BRCA1/2 gene mutations, and that they receive health related information from healthcare providers, therefore, primary care providers play a critical role in identifying those at risk by thorough assessment of patients' family cancer history and providing guidance for screening and surveillance.

Young age at onset and having a positive family history of cancer are among the most important criteria to perform genetic testing. Identification of the carriers of pathogenic variants in high-risk families and also recurrent variants in the population will contribute to prevent of HBC.