Gintoni Iphigenia, Mastrogeorgiou Michael, Papakosta Veronica, Vassiliou Stavros, Yapijakis Christos
Unit of Orofacial Genetics, 1st Department of Pediatrics, National Kapodistrian University of Athens, University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, Choremion Laboratory "Hagia Sophia" Children's Hospital, Athens, Greece.
Department of Molecular Genetics, Cephalogenetics Center, Philaretou 88, Kallithea, 17675, Athens, Greece.
Biochem Genet. 2025 Apr;63(2):917-935. doi: 10.1007/s10528-024-10746-0. Epub 2024 Mar 28.
Basal cell carcinoma (BCC) is the most prevalent human neoplasm, with constantly increasing annual incidence. Despite its slow growth, BCC is locally invasive and, if left untreated, can cause severe complications, including metastasis and death. The renin-angiotensin system (RAS) plays a key role in electrolyte balance, atrial pressure, tissue development, homeostasis, and inflammation, but also in cancer development. After binding to its type 1 receptor (AT1R), angiotensin II (ANGII), the system's principal hormonal effector, regulates cancer pathways spanning from the formation of the initial cancer cell to the construction and nutrition of the tumor microenvironment, angiogenesis, proliferation, and metastasis. Although the role of RAS in the development of skin pathologies has not been widely researched, RAS-targeting antihypertensive medications have been shown to have a chemoprotective effect against BCC. Based on those findings, our group conducted a series of genetic association studies to investigate the association between common functional variations in key genes related to ANGII production (AGT, ACE, ACE2, AT1R, AT2R, and CMA1) and the risk of BCC occurrence. This review provides a summary of the current understanding of the ANGII involvement in BCC development. The reliable and easily assessed pool of genetic biomarkers may be used for predictive testing and prevention purposes in high-risk individuals.
基底细胞癌(BCC)是最常见的人类肿瘤,其年发病率持续上升。尽管BCC生长缓慢,但具有局部侵袭性,若不治疗,可导致严重并发症,包括转移和死亡。肾素-血管紧张素系统(RAS)在电解质平衡、心房压力、组织发育、内环境稳定和炎症中起关键作用,在癌症发展中也发挥作用。该系统的主要激素效应物血管紧张素II(ANGII)与1型受体(AT1R)结合后,调节从初始癌细胞形成到肿瘤微环境构建与营养、血管生成、增殖和转移的癌症通路。尽管RAS在皮肤病变发展中的作用尚未得到广泛研究,但已证明靶向RAS的抗高血压药物对BCC具有化学保护作用。基于这些发现,我们团队开展了一系列基因关联研究,以调查与ANGII产生相关的关键基因(AGT、ACE、ACE2、AT1R、AT2R和CMA1)的常见功能变异与BCC发生风险之间的关联。本综述总结了目前对ANGII参与BCC发展的理解。可靠且易于评估的基因生物标志物库可用于高危个体的预测性检测和预防目的。