Mitchell Grace, Mitchell Maika G, Akinbo Preciosa
Medicine, NYU Langone Health School of Medicine, New York, USA.
Oncology, NYU Langone Health School of Medicine, New York, USA.
Cureus. 2025 Aug 3;17(8):e89290. doi: 10.7759/cureus.89290. eCollection 2025 Aug.
CDH1, encoding the cell adhesion protein E-cadherin, is a critical tumor suppressor gene frequently altered in lobular breast cancer (LBC). Loss of CDH1 function, primarily through truncating or missense mutations and loss of heterozygosity, disrupts cell adhesion and polarity, promoting tumor invasiveness and metastasis. This molecular alteration defines LBC's unique histology and clinical behavior, including distinct metastatic patterns and therapeutic resistance. While epigenetic silencing is less common, CDH1 loss correlates with poorer survival outcomes. Understanding CDH1's role offers opportunities for targeted therapies and improved patient management, though further research is needed to address existing gaps.
CDH1基因编码细胞粘附蛋白E-钙粘蛋白，是一种关键的肿瘤抑制基因，在小叶乳腺癌（LBC）中经常发生改变。CDH1功能的丧失主要通过截短或错义突变以及杂合性缺失，破坏细胞粘附和极性，促进肿瘤侵袭和转移。这种分子改变定义了LBC独特的组织学和临床行为，包括独特的转移模式和治疗抗性。虽然表观遗传沉默不太常见，但CDH1缺失与较差的生存结果相关。了解CDH1的作用为靶向治疗和改善患者管理提供了机会，不过仍需要进一步研究来填补现有空白。
