Pourmasoumi Parvin, Moradi Ali, Bayat Mohammad
Department of Biomedical Engineering, Central Tehran Branch, Islamic Azad University, Tehran, Iran.
Department of Biology and Anatomical Sciences, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Reprod Sci. 2024 Dec;31(12):3624-3634. doi: 10.1007/s43032-024-01666-w. Epub 2024 Aug 6.
Breast and ovarian cancers are significant global health concerns, and understanding their genetic underpinnings is essential for effective prevention and cure. This narrative review provides a comprehensive analysis of studies conducted between 1994 and June 2024, focusing on the link between specific mutations in the breast cancer susceptibility gene 1 (BRCA1) and breast cancer susceptibility gene 2 (BRCA2) and the associated risks of both breast and ovarian cancers. It encompasses the findings of various works, including observational studies and molecular profiling analyses. Conducted on large international cohorts, these studies present compelling evidence of the relationship between different BRCA1 and BRCA2 mutations and the varying risks of breast and ovarian cancer. Furthermore, this review highlights the significance of nonsense-mediated decay mutations and their impact on cancer risk, particularly concerning the age of breast cancer onset. The implications of these findings are far-reaching, offering valuable information for risk assessment and decision-making in managing individuals who carry BRCA1 or BRCA2 mutations. The molecular subtyping profile BluePrint is discussed as a potential tool for enhancing clinical care by aiding the selection of appropriate treatment options, such as endocrine therapy or chemotherapy, based on the tumor's molecular characteristics. In conclusion, we establish a robust link between specific BRCA1 and BRCA2 gene mutations and increased susceptibility to breast and ovarian cancers. These mutations impact cancer onset age and severity, underscoring the need for targeted testing and screening. The current study enhances cancer detection, prevention, and cure strategies.
乳腺癌和卵巢癌是全球重大的健康问题，了解其遗传基础对于有效预防和治疗至关重要。本叙述性综述对1994年至2024年6月期间开展的研究进行了全面分析，重点关注乳腺癌易感基因1（BRCA1）和乳腺癌易感基因2（BRCA2）的特定突变与乳腺癌和卵巢癌相关风险之间的联系。它涵盖了各种研究成果，包括观察性研究和分子谱分析。这些研究在大型国际队列中进行，有力地证明了不同BRCA1和BRCA2突变与乳腺癌和卵巢癌不同风险之间的关系。此外，本综述强调了无义介导的衰变突变的重要性及其对癌症风险的影响，特别是关于乳腺癌发病年龄。这些发现的影响深远，为管理携带BRCA1或BRCA2突变的个体的风险评估和决策提供了有价值的信息。作为一种潜在工具，讨论了分子亚型谱Blueprint，它通过根据肿瘤的分子特征帮助选择合适的治疗方案，如内分泌治疗或化疗，来加强临床护理。总之，我们在特定的BRCA1和BRCA2基因突变与乳腺癌和卵巢癌易感性增加之间建立了强有力的联系。这些突变影响癌症发病年龄和严重程度，强调了进行靶向检测和筛查的必要性。当前的研究增强了癌症检测、预防和治疗策略。
