A recent study highlights promising outcomes for BRCA variant carriers with breast cancer undergoing breast-conserving therapy. Analyzing 172 women, the research found that despite higher risks of ipsilateral and contralateral cancer events, the majority avoided bilateral mastectomies over an 11.8-year median follow-up. With a 10-year overall survival rate of 88.5%, these findings underscore the viability of breast-conserving therapy for BRCA patients. Read more about this under Article 2 below.
Contents
- Article 1: A transcriptomic atlas of the human brain reveals genetically determined aspects of neuropsychiatric health
- Article 2: Clinical outcomes for BRCA pathogenic variant carriers with breast cancer undergoing breast conservation
- Article 3: Early prostate cancer deaths among men with higher vs lower genetic risk
- Article 4: Association of genetic risk, lifestyle, and their interaction with obesity and obesity-related morbidities
- Article 5: Whole-exome sequencing identifies protein-coding variants associated with brain iron in 29,828 individuals
- References
Article 1: A transcriptomic atlas of the human brain reveals genetically determined aspects of neuropsychiatric health
Gene expression regulation is key to brain health. This study links gene expression with brain structure by using tissue-specific transcriptome-wide association studies (TWAS) on 33,224 UK Biobank participants. Researchers found significant associations between 7,192 genes and MRI-derived brain measures. The method highlights how gene expression can predict brain structure and organization, revealing how schizophrenia risk genes affect brain phenotypes. This approach aids in understanding brain function and disease by linking genetic data with neuroimaging features. Read the full article here.
In summary: Gene expression impacts brain structure, link to schizophrenia risk genes
Article 2: Clinical outcomes for BRCA pathogenic variant carriers with breast cancer undergoing breast conservation
This study analyzed outcomes for 172 women with BRCA-associated breast cancer treated with breast-conserving therapy at a comprehensive cancer center. Despite higher risks of ipsilateral (12.2%) and contralateral (21.3%) cancer events, most remained bilateral mastectomy-free over a median follow-up of 11.8 years. Ten-year overall survival was 88.5%. BRCA1 carriers were younger and had more aggressive tumors than BRCA2 carriers. These findings support breast-conserving therapy as a viable option for BRCA variant carriers. Read the full article here.
In summary: Breast-conserving therapy viable for BRCA breast cancer patients
Article 3: Early prostate cancer deaths among men with higher vs lower genetic risk
In this cohort study spanning 20 years, researchers analyzed 19,607 men from Sweden and the US to understand the impact of genetic risk on prostate cancer mortality. Men with higher genetic risk faced significantly increased rates of both early and late prostate cancer deaths compared to those at lower risk. They accounted for the majority of early deaths, with about one-third deemed preventable through healthy lifestyle choices. This underscores the importance of targeted prevention strategies for men with genetic predispositions to prostate cancer. Read the full article here.
In summary: Higher genetic risk increases prostate cancer mortality, emphasizing targeted prevention
In a study of 338,645 UK Biobank participants, researchers examined how genetic and lifestyle factors interact to influence obesity risk. They calculated a polygenic score for body mass index and derived a composite lifestyle score from factors like physical activity and diet. Results showed significant interaction between high genetic risk and poor lifestyle choices, impacting obesity risk. Those adhering to healthy lifestyles had lower obesity risks, highlighting lifestyle’s role in mitigating genetic predisposition. Promoting healthy habits is crucial for preventing obesity-related health issues regardless of genetic background. Read the full article here.
In summary: Healthy lifestyle reduces obesity risk, even with high genetic predisposition
Article 5: Whole-exome sequencing identifies protein-coding variants associated with brain iron in 29,828 individuals
Researchers conducted an exome-wide study on 26,789 UK Biobank participants to explore genetic links to brain iron levels measured by quantitative susceptibility mapping. They identified 36 genes associated with brain iron, including 29 previously unreported ones, crucial for iron transport and homeostasis (e.g., FTH1, MLX). Novel associations were found with brain disorders like Parkinson’s, Alzheimer’s, and depression. Mendelian randomization identified causal links from regional brain iron to these disorders, suggesting potential therapeutic avenues. These findings enhance knowledge of brain iron genetics and disease targets. Read the full article here.
In summary: Study finds 36 genes linked to brain iron, impacting neurological disorders
References
[1] Bledsoe, X., & Gamazon, E. R. (2024). A transcriptomic atlas of the human brain reveals genetically determined aspects of neuropsychiatric health. American journal of human genetics, S0002-9297(24)00208-8. Advance online publication. https://doi.org/10.1016/j.ajhg.2024.06.002
[2] Wanis, K. N., Kuerer, H. M., Sun, S. X., Hunt, K. K., Glencer, A. C., Teshome, M., Lucci, A., Weiser, R., Johnson, H., Smith, B. D., Gutierrez, A. M., Shaitelman, S. F., & Arun, B. K. (2024). Clinical Outcomes for BRCA Pathogenic Variant Carriers With Breast Cancer Undergoing Breast Conservation. JAMA network open, 7(6), e2418486. https://doi.org/10.1001/jamanetworkopen.2024.18486
[3] Plym, A., Zhang, Y., Stopsack, K. H., Ugalde-Morales, E., Seibert, T. M., Conti, D. V., Haiman, C. A., Baras, A., Stocks, T., Drake, I., Penney, K. L., Giovannucci, E., Kibel, A. S., Wiklund, F., Mucci, L. A., & Regeneron Genetics Center (2024). Early Prostate Cancer Deaths Among Men With Higher vs Lower Genetic Risk. JAMA network open, 7(7), e2420034. https://doi.org/10.1001/jamanetworkopen.2024.20034
[4] Kim, M. S., Shim, I., Fahed, A. C., Do, R., Park, W. Y., Natarajan, P., Khera, A. V., & Won, H. H. (2024). Association of genetic risk, lifestyle, and their interaction with obesity and obesity-related morbidities. Cell metabolism, 36(7), 1494–1503.e3. https://doi.org/10.1016/j.cmet.2024.06.004
[5] Gong, W., Fu, Y., Wu, B. S., Du, J., Yang, L., Zhang, Y. R., Chen, S. D., Kang, J., Mao, Y., Dong, Q., Tan, L., Feng, J., Cheng, W., & Yu, J. T. (2024). Whole-exome sequencing identifies protein-coding variants associated with brain iron in 29,828 individuals. Nature communications, 15(1), 5540. https://doi.org/10.1038/s41467-024-49702-2
