Molecular Oncology and Viral Pathology Group-Research Center, Portuguese Institute of Oncology, Edificio Laboratórios, 1° piso, Rua Dr. António Bernardino de Almeida, 4200-072 Porto, Portugal; ICBAS, Abel Salazar Institute for the Biomedical Sciences, Rua de Jorge Viterbo Ferreira, 228, 4050-313 Porto, Portugal.
Molecular Oncology and Viral Pathology Group-Research Center, Portuguese Institute of Oncology, Edificio Laboratórios, 1° piso, Rua Dr. António Bernardino de Almeida, 4200-072 Porto, Portugal.
Biochim Biophys Acta Rev Cancer. 2020 Jan;1873(1):188331. doi: 10.1016/j.bbcan.2019.188331. Epub 2019 Nov 2.
Venous thromboembolism (VTE) is a common cardiovascular disease thought to be the outcome of an intricate interplay between acquired and inherited factors that act together to modify disease risk. Over the years, several single-nucleotide polymorphisms (SNPs) in candidate genes have been associated with disease risk, including F5 rs6025, F2 rs1799963, FGG rs2066865, ABO genetic variants, among others less common. More recently, genome-wide association studies (GWAS) have contributed to the identification of novel VTE-associated SNPs, some of them located in novel genes with no clear role in the haemostatic system, such as SLC44A2 rs2288904 and TSPAN15 rs78707713. Given the existence of a tight relationship between VTE and cancer, with both pathologies sharing biological pathways that allow one to promote the other, these SNPs constitute potential prognostic and predictive biomarkers currently needed for better management of cancer patients. Among solid tumours, ovarian cancer (OC) is one of the most frequently associated with VTE. Indeed, haemostatic components might have a significant impact in OC progression, and therefore, the clinical and biological implications of VTE-associated SNPs should be assessed in patients with this neoplasia.
静脉血栓栓塞症（VTE）是一种常见的心血管疾病，被认为是获得性和遗传性因素相互作用的结果，这些因素共同作用改变疾病风险。多年来，一些候选基因中的单核苷酸多态性（SNP）与疾病风险相关，包括 F5 rs6025、F2 rs1799963、FGG rs2066865、ABO 遗传变异等不太常见的因素。最近，全基因组关联研究（GWAS）有助于确定新的与 VTE 相关的 SNP，其中一些位于新基因中，这些基因在止血系统中没有明确作用，如 SLC44A2 rs2288904 和 TSPAN15 rs78707713。鉴于 VTE 和癌症之间存在紧密的关系，这两种病理具有允许一种促进另一种的生物学途径，这些 SNP 构成了目前癌症患者更好管理所需的潜在预后和预测生物标志物。在实体肿瘤中，卵巢癌（OC）是与 VTE 最相关的肿瘤之一。事实上，止血成分可能对 OC 进展有重大影响，因此，应该在患有这种肿瘤的患者中评估与 VTE 相关的 SNP 的临床和生物学意义。
