Despite significant progress in the prevention, screening, diagnosis, prognosis, and therapy of breast cancer (BC), it remains a highly prevalent and life-threatening disease affecting millions worldwide. Molecular subtyping of BC is crucial for predictive and prognostic purposes due to the diverse clinical behaviors observed across various types. The molecular heterogeneity of BC poses uncertainties in its impact on diagnosis, prognosis, and treatment. Numerous studies have highlighted genetic and environmental differences between patients from different geographic regions, emphasizing the need for localized research. International studies have revealed that patients with African heritage are often diagnosed at a more advanced stage and exhibit poorer responses to treatment and lower survival rates. Despite these global findings, there is a dearth of in-depth studies focusing on communities in the African region. Early diagnosis and timely treatment are paramount to improving survival rates. In this context, radiogenomics emerges as a promising field within precision medicine. By associating genetic patterns with image attributes or features, radiogenomics has the potential to significantly improve early detection, prognosis, and diagnosis. It can provide valuable insights into potential treatment options and predict the likelihood of survival, progression, and relapse. Radiogenomics allows for visual features and genetic marker linkage that promises to eliminate the need for biopsy and sequencing. The application of radiogenomics not only contributes to advancing precision oncology and individualized patient treatment but also streamlines clinical workflows. This review aims to delve into the theoretical underpinnings of radiogenomics and explore its practical applications in the diagnosis, management, and treatment of BC and to put radiogenomics on a path towards fully integrated diagnostics.
尽管在乳腺癌的预防、筛查、诊断、预后和治疗方面取得了显著进展，它仍然是全球范围内影响数百万人的高发且危及生命的疾病。由于不同类型乳腺癌表现出多样的临床行为，其分子分型对于预测和预后至关重要。乳腺癌的分子异质性给其在诊断、预后和治疗方面的影响带来了不确定性。大量研究强调了不同地理区域患者之间的遗传和环境差异，凸显了开展本地化研究的必要性。国际研究表明，具有非洲血统的患者往往在更晚期被诊断，对治疗的反应较差，生存率也较低。尽管有这些全球性的发现，但针对非洲地区社区的深入研究仍然匮乏。早期诊断和及时治疗对于提高生存率至关重要。在此背景下，影像基因组学作为精准医学中的一个新兴领域展现出巨大潜力。通过将遗传模式与影像属性或特征相关联，影像基因组学有望显著改善早期检测、预后和诊断。它能为潜在治疗方案提供有价值的见解，并预测生存、进展和复发的可能性。影像基因组学实现了视觉特征与遗传标记的关联，有望消除对活检和测序的需求。影像基因组学的应用不仅有助于推进精准肿瘤学和个体化患者治疗，还能优化临床工作流程。本综述旨在深入探讨影像基因组学的理论基础，并探索其在乳腺癌诊断、管理和治疗中的实际应用，以推动影像基因组学朝着全面整合诊断的方向发展。
The Convergence of Radiology and Genomics: Advancing Breast Cancer Diagnosis with Radiogenomics
肿瘤(癌症)患者之家