Altena Renske, Bajalica-Lagercrantz Svetlana, Papakonstantinou Andri
Department of Oncology-Pathology, Karolinska Institutet, 17 177 Stockholm, Sweden.
Department of Breast cancer, Endocrine tumors and Sarcoma, Theme Cancer, Karolinska University Hospital, 17 176 Stockholm, Sweden.
Cancers (Basel). 2022 Sep 25;14(19):4665. doi: 10.3390/cancers14194665.
Pharmacogenomics is an emerging field in oncology, one that could provide valuable input on identifying patients with inherent risk of toxicity, thus allowing for treatment tailoring and personalization on the basis of the clinical and genetic characteristics of a patient. Cardiotoxicity is a well-known side effect of anthracyclines and anti-HER2 agents, although at a much lower incidence for the latter. Data on single-nucleotide polymorphisms related to cardiotoxicity are emerging but are still scarce, mostly being of retrospective character and heterogeneous. A literature review was performed, aiming to describe current knowledge in pharmacogenomics and prediction of cardiotoxicity related to breast cancer systemic therapies and radiotherapies. Most available data regard genes encoding various enzymes related to anthracycline metabolism and HER2 polymorphisms. The available data are presented, together with the challenges and open questions in the field.
药物基因组学是肿瘤学领域中一个新兴的学科,它可以为识别具有内在毒性风险的患者提供有价值的信息,从而根据患者的临床和基因特征进行治疗调整和个性化治疗。心脏毒性是蒽环类药物和抗HER2药物众所周知的副作用,尽管后者的发生率要低得多。与心脏毒性相关的单核苷酸多态性数据正在不断涌现,但仍然很少,且大多是回顾性的,数据也不统一。我们进行了一项文献综述,旨在描述药物基因组学的当前知识以及与乳腺癌全身治疗和放射治疗相关的心脏毒性预测。大多数现有数据涉及编码与蒽环类药物代谢相关的各种酶的基因和HER2多态性。本文呈现了现有数据,以及该领域面临的挑战和未解决的问题。