All articles tagged with #brca2
A Welsh woman believes she might have avoided ovarian cancer if Wales had offered BRCA genetic testing in 2014 like England did for under-50 women with triple-negative breast cancer; she only discovered her BRCA1 mutation after an ovarian cancer diagnosis in 2021, highlighting cross-border and regional disparities in access to testing and screening that Wales says it is addressing in a new cancer plan.
A 50-year-old associate professor from the UK, Shaunna Burke, becomes the first woman to summit Mount Everest while living with Stage 4 cancer. After chemo, surgeries, and targeted treatment for a BRCA2 mutation, she kept up fitness and completed the ascent in five weeks to allow for altitude acclimatization, all while documenting the journey for a film and raising funds for Macmillan Cancer Support. Burke credits regular exercise and a positive mindset with helping her stay resilient through treatment, and hopes her story inspires others with cancer to pursue their goals.
A UK woman battling a second breast cancer diagnosis adopted Dolly in 2018 for support; years later Dolly was diagnosed with breast cancer and underwent a mastectomy, with the cancer described as low-grade and requiring no further treatment, and both dog and owner are now cancer-free. The owner carries a BRCA2 gene mutation and also had a double mastectomy, illustrating the deep bond with a pet that can accompany and comfort patients through cancer treatment.
A large clinicogenomic analysis of 5,881 breast cancer patients shows germline BRCA2 mutations predispose tumors to acquire RB1 loss under CDK4/6 inhibitor pressure, aided by baseline RB1 hemizygosity and ongoing homologous recombination deficiency. This RB1 loss drives resistance to frontline CDK4/6 inhibitors, while PARP inhibitors outperform CDK4/6 inhibitors across models and data. The study proposes prioritizing PARP inhibition for gBRCA2 carriers to intercept RB1‑loss trajectories and delay resistance, and provides a predictive framework using pre-treatment germline/somatic context and mutational signatures to forecast resistance trajectories.
A new pre-surgery treatment combining chemotherapy and the targeted drug olaparib, with a carefully timed 48-hour gap, has achieved a 100% survival rate in a clinical trial for aggressive inherited breast cancers linked to BRCA mutations, potentially revolutionizing treatment approaches.
A Shetland woman, Christine Glaser, discovered her breast cancer through the Viking Genes research project, which identified a BRCA 2 gene variant in her family, leading to early and successful treatment.
A University of Cambridge study suggests that prescribing existing drugs to healthy women with faulty BRCA1 and BRCA2 genes, which increase the risk of developing breast cancer, could prevent the disease by targeting exhausted immune cells. This breakthrough could potentially reduce the need for mastectomies and provide a preventative treatment option. The study's Human Breast Cell Atlas identified these exhausted immune cells, opening up possibilities for using immunotherapy drugs preventatively. Further research and clinical trials are needed to confirm the effectiveness of this approach.