Breast cancer is the most common malignancy and leading cause of cancer-related mortality among women worldwide. Oestrogen receptor (ER)-positive disease accounts for the majority of cases, where endocrine and targeted therapies have substantially improved survival. Nevertheless, resistance to therapy remains inevitable, emphasising the need for precision strategies informed by molecular profiling. The molecular landscape of ER-positive breast cancer is increasingly complex, characterised by diverse genomic alterations driving resistance and progression. Advances in next-generation sequencing and circulating tumour DNA (ctDNA) technologies enable the dynamic assessment of tumour heterogeneity and clonal evolution, informing prognostication and guiding biomarker-driven therapy. Uniquely, this review integrates molecular phenotyping with clinical treatment algorithms for advanced ER-positive breast cancer, providing a practical framework to translate genomic insights into patient care. Key genomic alterations and targeted strategies with demonstrated clinical benefit, including oral selective ER degraders (SERDs) andPI3K/AKT/mTORinhibitors in selected biomarker populations, are highlighted. Emerging targets, such as human epidermal growth factor 2 (HER2) mutations, and the potential of ctDNA monitoring to detect resistance and guide therapeutic escalation are also discussed. Incorporating molecular profiling, as recommended by international guidelines, into routine clinical decision making can personalise therapy and optimise patient outcomes. Addressing real-world challenges, including cost and accessibility, will be critical to achieving equitable implementation of precision oncology for patients with ER-positive breast cancer worldwide.
乳腺癌是全球女性中最常见的恶性肿瘤，也是癌症相关死亡的主要原因。雌激素受体阳性病例占大多数，内分泌治疗和靶向治疗已显著提高了患者的生存率。然而，治疗耐药性仍不可避免，这凸显了基于分子谱分析制定精准策略的必要性。雌激素受体阳性乳腺癌的分子图谱日益复杂，其特征是驱动耐药和进展的多种基因组改变。新一代测序和循环肿瘤DNA技术的进步使得动态评估肿瘤异质性和克隆演化成为可能，从而为预后判断和生物标志物驱动的治疗提供依据。本综述独特之处在于将分子表型分析与晚期雌激素受体阳性乳腺癌的临床治疗路径相结合，为将基因组学见解转化为患者照护提供了实用框架。文中重点介绍了具有临床获益的关键基因组改变及靶向策略，包括口服选择性雌激素受体降解剂以及在特定生物标志物人群中应用的PI3K/AKT/mTOR抑制剂。同时探讨了新兴靶点（如人表皮生长因子2突变）以及循环肿瘤DNA监测在检测耐药性和指导治疗升级方面的潜力。按照国际指南建议，将分子谱分析纳入常规临床决策，可实现个体化治疗并优化患者预后。解决现实挑战（包括成本与可及性问题）对于在全球范围内公平实施雌激素受体阳性乳腺癌精准肿瘤治疗至关重要。
肿瘤(癌症)患者之家